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294 results on '"Limongelli A"'

1. Syncope in hypertrophic cardiomyopathy (part II): An expert consensus statement on the diagnosis and management

Author

Michele Brignole, Franco Cecchi, Aris Anastasakis, Lia Crotti, Jean Claude Deharo, Perry M. Elliott, Artur Fedorowski, Juan Pablo Kaski, Giuseppe Limongelli, Martin S. Maron, Iacopo Olivotto, Steve R. Ommen, Gianfranco Parati, Win Shen, Andrea Ungar, Arthur Wilde, Brignole, M, Cecchi, F, Anastasakis, A, Crotti, L, Deharo, J, Elliott, P, Fedorowski, A, Kaski, J, Limongelli, G, Maron, M, Olivotto, I, Ommen, S, Parati, G, Shen, W, Ungar, A, and Wilde, A

Subjects
Cardiomyopathy, Hypertrophic, Risk Assessment, Syncope, Hypertrophic cardiomyopathy, Defibrillators, Implantable, Sudden cardiac death, Death, Sudden, Cardiac, Risk Factors, Diagnosis, Reflex syncope, Humans, Implantable defibrillator, Cardiology and Cardiovascular Medicine, Risk stratification, Diagnosi
Abstract

Syncopal events in patients with hypertrophic cardiomyopathy (HCM) are of concern as they are a vital consideration in algorithms for risk stratification for sudden cardiac death (SCD) and ICD implantation. However, the cause of syncope is often under-investigated and/or unexplained. Current syncope guidelines do not provide a detailed definition of unexplained syncope. To address this important gap, an international panel of experts in the field of both syncope and HCM wrote a consensus document with the aim of providing practical guidance for the diagnosis and management of syncope in patients with HCM.

Published
2023

2. Sport activity in patients with cardiomyopathies: a review

Author

Daniele Andreini, Barbara Bauce, Giuseppe Limongelli, Sara Monosilio, Francesca Di Lorenzo, Filippo Angelini, Eleonora Melotti, Emanuele Monda, Ruggiero Mango, Elisabetta Toso, and Viviana Maestrini

Subjects
General Medicine, Cardiology and Cardiovascular Medicine
Published
2023

3. Indications and management of implantable cardioverter-defibrillator therapy in childhood hypertrophic cardiomyopathy

Author

Juan Pablo Kaski, Janneke A.E. Kammeraad, Nico A. Blom, Juha-Matti Happonen, Jan Janousek, Sabine Klaassen, Giuseppe Limongelli, Ingegerd Östman-Smith, Georgia Sarquella Brugada, and Lidia Ziolkowska

Subjects
Pediatrics, Perinatology and Child Health, General Medicine, Cardiology and Cardiovascular Medicine
Abstract

Sudden cardiac death is the most common mode of death during childhood and adolescence in hypertrophic cardiomyopathy, and identifying those individuals at highest risk is a major aspect of clinical care. The mainstay of preventative therapy is the implantable cardioverter-defibrillator, which has been shown to be effective at terminating malignant ventricular arrhythmias in children with hypertrophic cardiomyopathy but can be associated with substantial morbidity. Accurate identification of those children at highest risk who would benefit most from implantable cardioverter-defibrillator implantation while minimising the risk of complications is, therefore, essential. This position statement, on behalf of the Association for European Paediatric and Congenital Cardiology (AEPC), reviews the currently available data on established and proposed risk factors for sudden cardiac death in childhood-onset hypertrophic cardiomyopathy and current approaches for risk stratification in this population. It also provides guidance on identification of individuals at risk of sudden cardiac death and optimal management of implantable cardioverter-defibrillators in children and adolescents with hypertrophic cardiomyopathy.

Published
2023

4. Medical treatment of patients with hypertrophic cardiomyopathy: An overview of current and emerging therapy

Author

Michele Iavarone, Emanuele Monda, Olga Vritz, Dimpna Calila Albert, Marta Rubino, Federica Verrillo, Martina Caiazza, Michele Lioncino, Federica Amodio, Natale Guarnaccia, Felice Gragnano, Raffaella Lombardi, Giovanni Esposito, Eduardo Bossone, Paolo Calabrò, Maria Angela Losi, Giuseppe Limongelli, Iavarone, Michele, Monda, Emanuele, Vritz, Olga, Calila Albert, Dimpna, Rubino, Marta, Verrillo, Federica, Caiazza, Martina, Lioncino, Michele, Amodio, Federica, Guarnaccia, Natale, Gragnano, Felice, Lombardi, Raffaella, Esposito, Giovanni, Bossone, Eduardo, Calabro, Paolo, Losi, Maria Angela, Limongelli, Giuseppe, and Calabrò, Paolo

Subjects
Gene therapy, Medical therapy, Humans, General Medicine, Cardiomyopathy, Hypertrophic, Cardiology and Cardiovascular Medicine, Hypertrophic cardiomyopathy
Abstract

Several treatments have demonstrated safety and effectiveness in the treatment of patients with hypertrophic cardiomyopathy; however, no drug has been shown to modify the natural history of the disease or to decrease maximal wall thickness. Improvement in our knowledge of the physiopathology of the disease has permitted the development of new therapeutical approaches, including sarcomere modulators and gene therapy. A sarcomere modulator - mavacamten - has been shown to improve exercise capacity, left ventricular outflow tract obstruction, New York Heart Association functional class and health status in a phase 3 trial. Gene therapy - although still far from human experimentation - also has promising characteristics that may radically revolutionize the treatment of hypertrophic cardiomyopathy in the future. This therapy is currently approved for the treatment of select haematological malignancies, inherited retinal dystrophy and spinal muscular atrophy, and could potentially correct the genetic alterations of the most frequent sarcomeric forms of hypertrophic cardiomyopathy. This review provides an overview of current conventional therapies for the management of patients with hypertrophic cardiomyopathy, discusses emerging therapeutic approaches and presents future perspectives.

Published
2022

5. Clinical application of CMR in cardiomyopathies: evolving concepts and techniques : A position paper of myocardial and pericardial diseases and cardiac magnetic resonance working groups of Italian society of cardiology

Author

Marco Merlo, Giulia Gagno, Anna Baritussio, Barbara Bauce, Elena Biagini, Marco Canepa, Alberto Cipriani, Silvia Castelletti, Santo Dellegrottaglie, Andrea Igoren Guaricci, Massimo Imazio, Giuseppe Limongelli, Maria Beatrice Musumeci, Vanda Parisi, Silvia Pica, Gianluca Pontone, Giancarlo Todiere, Camilla Torlasco, Cristina Basso, Gianfranco Sinagra, Pasquale Perrone Filardi, Ciro Indolfi, Camillo Autore, Andrea Barison, Merlo, M., Gagno, G., Baritussio, A., Bauce, B., Biagini, E., Canepa, M., Cipriani, A., Castelletti, S., Dellegrottaglie, S., Guaricci, A. I., Imazio, M., Limongelli, G., Musumeci, M. B., Parisi, V., Pica, S., Pontone, G., Todiere, G., Torlasco, C., Basso, C., Sinagra, G., Filardi, P. P., Indolfi, C., Autore, C., Barison, A., Merlo, Marco, Gagno, Giulia, Baritussio, Anna, Bauce, Barbara, Biagini, Elena, Canepa, Marco, Cipriani, Alberto, Castelletti, Silvia, Dellegrottaglie, Santo, Guaricci, Andrea Igoren, Imazio, Massimo, Limongelli, Giuseppe, Musumeci, Maria Beatrice, Parisi, Vanda, Pica, Silvia, Pontone, Gianluca, Todiere, Giancarlo, Torlasco, Camilla, Basso, Cristina, Sinagra, Gianfranco, Filardi, Pasquale Perrone, Indolfi, Ciro, Autore, Camillo, and Barison, Andrea

Subjects
Cardiac magnetic resonance, Cardiomyopathies, Diagnosis, Prognosis, Settore MED/11 - Malattie dell'Apparato Cardiovascolare, Cardiology and Cardiovascular Medicine, Cardiomyopathie, Diagnosi
Abstract

Cardiac magnetic resonance (CMR) has become an essential tool for the evaluation of patients affected or at risk of developing cardiomyopathies (CMPs). In fact, CMR not only provides precise data on cardiac volumes, wall thickness, mass and systolic function but it also a non-invasive characterization of myocardial tissue, thus helping the early diagnosis and the precise phenotyping of the different CMPs, which is essential for early and individualized treatment of patients. Furthermore, several CMR characteristics, such as the presence of extensive LGE or abnormal mapping values, are emerging as prognostic markers, therefore helping to define patients’ risk. Lastly new experimental CMR techniques are under investigation and might contribute to widen our knowledge in the field of CMPs. In this perspective, CMR appears an essential tool to be systematically applied in the diagnostic and prognostic work-up of CMPs in clinical practice. This review provides a deep overview of clinical applicability of standard and emerging CMR techniques in the management of CMPs.

Published
2023

6. Does moderate hyperkalemia influence survival in HF? Insights from the MECKI score data base

Author

Federica Toto, Elisabetta Salvioni, Damiano Magrì, Susanna Sciomer, Massimo Piepoli, Roberto Badagliacca, Arianna Galotta, Nikita Baracchini, Stefania Paolillo, Ugo Corrà, Rosa Raimondo, Rocco Lagioia, Pasquale Perrone Filardi, Annamaria Iorio, Michele Senni, Michele Correale, Mariantonietta Cicoira, Enrico Perna, Marco Metra, Marco Guazzi, Giuseppe Limongelli, Gianfranco Sinagra, Gianfranco Parati, Gaia Cattadori, Francesco Bandera, Maurizio Bussotti, Massimo Mapelli, Manlio Cipriani, Alice Bonomi, Gonçalo Cunha, Federica Re, Carlo Vignati, Andrea Garascia, Carlo Lombardi, Angela B. Scardovi, Andrea Passantino, Michele Emdin, Claudio Passino, Caterina Santolamazza, Davide Girola, Denise Zaffalon, Dario Vizza, Fabiana De Martino, Piergiuseppe Agostoni, Toto, Federica, Salvioni, Elisabetta, Magrì, Damiano, Sciomer, Susanna, Piepoli, Massimo, Badagliacca, Roberto, Galotta, Arianna, Baracchini, Nikita, Paolillo, Stefania, Corrà, Ugo, Raimondo, Rosa, Lagioia, Rocco, Filardi, Pasquale Perrone, Iorio, Annamaria, Senni, Michele, Correale, Michele, Cicoira, Mariantonietta, Perna, Enrico, Metra, Marco, Guazzi, Marco, Limongelli, Giuseppe, Sinagra, Gianfranco, Parati, Gianfranco, Cattadori, Gaia, Bandera, Francesco, Bussotti, Maurizio, Mapelli, Massimo, Cipriani, Manlio, Bonomi, Alice, Cunha, Gonçalo, Re, Federica, Vignati, Carlo, Garascia, Andrea, Lombardi, Carlo, Scardovi, Angela B, Passantino, Andrea, Emdin, Michele, Passino, Claudio, Santolamazza, Caterina, Girola, Davide, Zaffalon, Denise, Vizza, Dario, De Martino, Fabiana, Agostoni, Piergiuseppe, Toto, F., Salvioni, E., Magri, D., Sciomer, S., Piepoli, M., Badagliacca, R., Galotta, A., Baracchini, N., Paolillo, S., Corra, U., Raimondo, R., Lagioia, R., Filardi, P. P., Iorio, A., Senni, M., Correale, M., Cicoira, M., Perna, E., Metra, M., Guazzi, M., Limongelli, G., Sinagra, G., Parati, G., Cattadori, G., Bandera, F., Bussotti, M., Mapelli, M., Cipriani, M., Bonomi, A., Cunha, G., Re, F., Vignati, C., Garascia, A., Lombardi, C., Scardovi, A. B., Passantino, A., Emdin, M., Passino, C., Santolamazza, C., Girola, D., Zaffalon, D., Vizza, D., De Martino, F., and Agostoni, P.

Subjects
Renin angiotensin aldosterone system inhibitor, Prognosi, Heart failure, Hyperkalemia, Prognosis, Settore MED/11 - Malattie dell'Apparato Cardiovascolare, Cardiology and Cardiovascular Medicine
Abstract

Background: The prognostic role of moderate hyperkalemia in reduced ejection fraction (HFrEF) patients is still controversial. Despite this, it affects the use of renin–angiotensin–aldosterone system inhibitors (RAASi) with therapy down-titration or discontinuation. Objectives: Aim of the study was to assess the prognostic impact of moderate hyperkalemia in chronic HFrEF optimally treated patients. Methods and results: We retrospectively analyzed MECKI (Metabolic Exercise test data combined with Cardiac and Kidney Indexes) database, with median follow-up of 4.2 [IQR 1.9–7.5] years. Data on K+ levels were available in 7087 cases. Patients with K+ plasma level ≥ 5.6 mEq/L and < 4 mEq/L were excluded. Remaining patients were categorized into normal >4 and < 5 mEq/L (n = 4826, 68%) and moderately high ≥5.0 and ≤ 5.5 mEq/L (n = 496, 7%) K+. Then patients were matched by propensity score in 484 couplets of patients. MECKI score value was 7% [IQR 3.1–14.1%] and 7.3% [IQR 3.4–15%] (p = 0.678) in patients with normal and moderately high K+ values while cardiovascular mortality events at two years follow-up were 41 (4.2%) and 33 (3.4%) (p = 0.333) in each group respectively. Conclusions: Moderate hyperkalemia does not influence patients' outcome in a large cohort of ambulatory HFrEF patients.

Published
2023

7. Myocardial infarction with non-obstructive coronary arteries in hypertrophic cardiomyopathy vs Fabry disease

Author

Francesca Graziani, Rosa Lillo, Elena Biagini, Giuseppe Limongelli, Camillo Autore, Maurizio Pieroni, Chiara Lanzillo, Leonardo Calò, Maria Beatrice Musumeci, Gessica Ingrasciotta, Matteo Minnucci, Raffaello Ditaranto, Alessandra Milazzo, Chiara Zocchi, Marta Rubino, Gaetano Antonio Lanza, Iacopo Olivotto, and Filippo Crea

Subjects
Adult, Fabry disease, MINOCA, Myocardial infarction, Settore MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Humans, Coronary microvascular dysfunction, Hypertrophy, Left Ventricular, Cardiomyopathy, Hypertrophic, Coronary Angiography, Cardiology and Cardiovascular Medicine, Retrospective Studies, Hypertrophic cardiomyopathy
Abstract

Little is known about prevalence and predictors of myocardial infarction with non-obstructive coronary arteries (MINOCA) in Fabry disease (FD) and hypertrophic cardiomyopathy (HCM). We assessed and compared the prevalence and predictors of MINOCA in a large cohort of HCM and FD patients.In this multicenter, retrospective study we enrolled 2870 adult patients with HCM and 267 with FD. The only exclusion criterion was documented obstructive coronary artery disease. MINOCA was defined according to guidelines. For each patient we collected clinical, ECG and echocardiographic data recorded at initial evaluation.Overall, 36 patients had MINOCA during a follow-up period of 4.5 ± 11.2 years. MINOCA occurred in 16 patients with HCM (0.5%) and 20 patients with FD (7.5%; p lt; 0.001). The difference between the 2 groups was highly significant, also after adjustment for the main clinical, ECG and echocardiographic variables (OR 6.12; 95%CI 2.80-13.3; p lt; 0.001). In the FD population MINOCA occurred in 17 out of 96 patients with left ventricle hypertrophy (LVH, 17.7%) and in 3 out of 171 patients without LVH (1.7%; OR 12.0; 95%CI 3.43-42.3; p lt; 0.001). At multivariable analysis, voltage criteria for LVH at ECG (OR 7.3; 95%CI 1.93-27.7; p = 0.003) and maximal LV wall thickness at echocardiography (OR 1.15; 95%CI 1.05-1.27; p = 0.002) maintained an independent association with MINOCA. No major significant differences were found in clinical, ECG and echocardiographic findings between HCM patients with or without MINOCA.MINOCA was rare in HCM patients, and 6-fold more frequent in FD patients. MINOCA may be considered a red flag for FD and aid in the differential diagnosis from HCM.

Published
2022

8. A national survey on prevalence of possible echocardiographic red flags of amyloid cardiomyopathy in consecutive patients undergoing routine echocardiography: study design and patients characterization — the first insight from the AC-TIVE Study

Author

Matteo Cameli, Elisa Giacomin, Marco Metra, Giuseppe Limongelli, Stefano Favale, Martina Caiazza, Antonino Milidoni, Carlo Lombardi, Marco Merlo, Lia Crotti, Angelo Giuseppe Caponetti, Andrea Carlo Merlo, Francesco Cappelli, Alessandro Andreis, Valentina Spini, Camillo Autore, Rita Pavasini, Beatrice Musumeci, Iacopo Olivotto, Michele Emdin, Francesco Bruno, Marco Canepa, Luigi P. Badano, Giuseppe De Carli, Giulia Saturi, Cinzia Forleo, Giuseppe Vergaro, Miriam Albanese, Massimo Imazio, Luca Di Ienno, Giovanna Branzi, Andrea Igoren Guaricci, Claudio Rapezzi, Gianluca Di Bella, Gianfranco Sinagra, Linda Pagura, Valeria Rella, Gianfranco Parati, Giovanni La Malfa, Stefano Perlini, Enrico Sfriso, Aldostefano Porcari, Elena Biagini, Giuseppe Palmiero, Francesca Longo, Franca Dore, Merlo, Marco, Porcari, Aldostefano, Pagura, Linda, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Lombardi, Carlo Mario, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Albanese, Miriam, Guaricci, Andrea Igoren, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Sfriso, Enrico, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Spini, Valentina, Milidoni, Antonino, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Porcari, A, Pagura, L, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Favale, S, Di Bella, G, Dore, F, Lombardi, C, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Albanese, M, Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Sfriso, E, Di Ienno, L, De Carli, G, Giacomin, E, Spini, V, Milidoni, A, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, and Sinagra, G

Subjects
medicine.medical_specialty, Epidemiology, Socio-culturale, Cardiac amyloidosis, Cardiac amyloidosi, Internal medicine, Prevalence, medicine, Humans, Red-flag, business.industry, MED/11 - MALATTIE DELL'APPARATO CARDIOVASCOLARE, Amyloidosis, Echocardiography, Red-flags, Cardiomyopathies, Emblems and Insignia, Cardiology, Cardiology and Cardiovascular Medicine, business, Amyloid cardiomyopathy, Red flags
Abstract

N/A

Published
2021

9. Bisoprolol for treatment of symptomatic patients with obstructive hypertrophic cardiomyopathy. The BASIC (bisoprolol AS therapy in hypertrophic cardiomyopathy) study

Author

Emanuele Monda, Michele Lioncino, Giuseppe Palmiero, Francesco Franco, Marta Rubino, Annapaola Cirillo, Federica Verrillo, Adelaide Fusco, Martina Caiazza, Marialuisa Mazzella, Elisabetta Moscarella, Francesca Dongiglio, Joseph Sepe, Giuseppe Pacileo, Paolo Calabrò, Giuseppe Limongelli, Monda, E., Lioncino, M., Palmiero, G., Franco, F., Rubino, M., Cirillo, A., Verrillo, F., Fusco, A., Caiazza, M., Mazzella, M., Moscarella, E., Dongiglio, F., Sepe, J., Pacileo, G., Calabro, P., and Limongelli, G.

Subjects
Adult, Retrospective Studie, Bisoprolol, Humans, Therapy, Cardiomyopathy, Hypertrophic, Cardiology and Cardiovascular Medicine, Disopyramide, Hypertrophic cardiomyopathy, Human, Retrospective Studies, Ventricular Outflow Obstruction
Abstract

Aims: To evaluate the role of bisoprolol to control symptoms and left ventricular outflow tract obstruction (LVOTO) in a consecutive cohort of adults with hypertrophic cardiomyopathy (HCM). Methods and results: In this retrospective study, patients with HCM with an LVOT gradient ≥50 mmHg after Valsalva manoeuvre and New York Heart Association (NYHA) class II-III symptoms were assigned to receive bisoprolol (starting at 1.25 mg daily). The initial dose was increased every two weeks to achieve the target in LVOT gradient

Published
2022

10. Natural history of left ventricular hypertrophy in infants of diabetic mothers

Author

Emanuele Monda, Federica Verrillo, Ippolita Altobelli, Michele Lioncino, Martina Caiazza, Marta Rubino, Annapaola Cirillo, Adelaide Fusco, Augusto Esposito, Francesco Di Fraia, Roberta Pacileo, Felice Gragnano, Annalisa Passariello, Paolo Calabrò, Maria Giovanna Russo, Giuseppe Limongelli, Monda, E., Verrillo, F., Altobelli, I., Lioncino, M., Caiazza, M., Rubino, Marta, Cirillo, A., Fusco, A., Esposito, A., Di Fraia, F., Pacileo, R., Gragnano, F., Passariello, Annalisa, Calabrò, Paolo, Russo, M. G., and Limongelli, G.

Subjects
Echocardiography, Diabetes Mellitus, Humans, Infant, Mothers, Left ventricular hypertrophy, Maternal diabetes, Female, Hypertrophy, Left Ventricular, Infants of diabetic mother, Cardiology and Cardiovascular Medicine, Retrospective Studies
Abstract

Background: This study sought to describe the characteristics and the natural course of left ventricular hypertrophy (LVH) in a well-characterized consecutive cohort of infants of diabetic mothers (IDMs). Methods: Sixty consecutive IDMs with LVH have been retrospectively identified and enrolled in the study. All IDMs were evaluated at baseline and every 6 months until LV wall thickness regression, defined as the decrease of wall thickness measurement into the normal reference range for cardiac parameters (z-score > −2 and < 2). A comprehensive assessment was performed in those patients with diagnostic markers suggestive of a different cause and/or without significant reduction of the LVH during follow-up. Results: At 1-year follow-up, all IDMs showed a significant reduction of maximal wall thickness MWT (6.00 mm [IQR 5.00–712] vs. 5.50 mm [IQR 5.00–6.00], p-value

Published
2022

11. Pick Your Threshold

Author

Elisabetta Salvioni, Massimo Mapelli, Alice Bonomi, Damiano Magrì, Massimo Piepoli, Maria Frigerio, Stefania Paolillo, Ugo Corrà, Rosa Raimondo, Rocco Lagioia, Roberto Badagliacca, Pasquale Perrone Filardi, Michele Senni, Michele Correale, Mariantonietta Cicoira, Enrico Perna, Marco Metra, Marco Guazzi, Giuseppe Limongelli, Gianfranco Sinagra, Gianfranco Parati, Gaia Cattadori, Francesco Bandera, Maurizio Bussotti, Federica Re, Carlo Vignati, Carlo Lombardi, Angela B. Scardovi, Susanna Sciomer, Andrea Passantino, Michele Emdin, Claudio Passino, Caterina Santolamazza, Davide Girola, Denise Zaffalon, Fabiana De Martino, Piergiuseppe Agostoni, Stefania Farina, Beatrice Pezzuto, Anna Apostolo, Pietro Palermo, Mauro Contini, Paola Gugliandolo, Irene Mattavelli, Michele Della Rocca, Giovanna Gallo, Federica Moscucci, Anita Iorio, Geza Halasz, Bruno Capelli, Simone Binno, Giuseppe Pacileo, Fabio Valente, Rossella Vastarella, Cosimo Carriere, Marco Masè, Marco Cittar, Andrea Di Lenarda, Sergio Caravita, Elena Viganò, Giovanni Marchese, Roberto Ricci, Luca Arcari, Domenico Scrutinio, Elisa Battaia, Michele Moretti, Maria Vittoria Matassini, Matilda Shkoza, Roland Herberg, Antonio Cittadini, Andrea Salzano, Alberto Marra, Eluisa Lafranca, and Giuseppe Vitale

Subjects
Pulmonary and Respiratory Medicine, Cardiology and Cardiovascular Medicine, Critical Care and Intensive Care Medicine
Published
2022

12. Diagnosis and Management of Cardiovascular Involvement in Friedreich Ataxia

Author

Martina Caiazza, Adelaide Fusco, Silvia Passantino, Francesco Di Fraia, Alfredo Mauriello, Federica Amodio, Annapaola Cirillo, Michele Lioncino, Francesco Natale, Silvia Favilli, Fabio Fimiani, Giuseppe Limongelli, Federica Verrillo, Nunzia Borrelli, Emanuele Monda, Marta Rubino, Francesca Girolami, Gioacchino Scarano, Monda, E., Lioncino, M., Rubino, M., Passantino, S., Verrillo, F., Caiazza, M., Cirillo, A., Fusco, A., Di Fraia, F., Fimiani, F., Amodio, F., Borrelli, N., Mauriello, A., Natale, F., Scarano, G., Girolami, F., Favilli, S., and Limongelli, G.

Subjects
medicine.medical_specialty, Ataxia, Cardiomyopathy, Left ventricular hypertrophy, Asymptomatic, Ventricular Function, Left, Internal medicine, Humans, Medicine, Ejection fraction, biology, business.industry, Hypertrophic cardiomyopathy, Stroke Volume, General Medicine, medicine.disease, Friedreich ataxia, Heart failure, Frataxin, biology.protein, Cardiology, Therapy, medicine.symptom, Cardiomyopathies, Trinucleotide Repeat Expansion, Cardiology and Cardiovascular Medicine, business, Diagnosi
Abstract

Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a homozygous GAA triplet repeat expansion in the frataxin gene. Cardiac involvement, usually manifesting as hypertrophic cardiomyopathy, can range from asymptomatic cases to severe cardiomyopathy with progressive deterioration of the left ventricular ejection fraction and chronic heart failure. The management of cardiac involvement is directed to prevent disease progression and cardiovascular complications. However, direct-disease therapies are not currently available for FRDA. The present review aims to describe the current state of knowledge regarding cardiovascular involvement of FRDA, focusing on clinical-instrumental features and management of cardiac manifestation.

Published
2022

13. Diagnosis and Management of Cardiovascular Involvement in Fabry Disease

Author

Adelaide Fusco, Eduardo Bossone, Emanuele Monda, Marta Rubino, Laura Capodicasa, Elena Biagini, Paolo Orabona, Francesca Dongiglio, Giuseppe Limongelli, Marialuisa Mazzella, Maurizio Pieroni, Dominique P. Germain, Martina Caiazza, Annapaola Cirillo, Giuseppe Palmiero, Antonio Pisani, Flavia Chiosi, Michele Lioncino, Paolo Calabrò, Arturo Cesaro, Rubino, M., Monda, E., Lioncino, M., Caiazza, M., Palmiero, G., Dongiglio, F., Fusco, A., Cirillo, A., Cesaro, A., Capodicasa, L., Mazzella, M., Chiosi, F., Orabona, P., Bossone, E., Calabro, P., Pisani, A., Germain, D. P., Biagini, E., Pieroni, M., and Limongelli, G.

Subjects
medicine.medical_specialty, medicine.medical_treatment, Left ventricular hypertrophy, Targeted therapy, Quality of life, Fibrosis, Internal medicine, medicine, Lysosomal storage disease, Humans, Enzyme Replacement Therapy, business.industry, Hypertrophic cardiomyopathy, General Medicine, Cardiomyopathy, Hypertrophic, medicine.disease, Fabry disease, Heart failure, Quality of Life, Cardiology, Fabry Disease, Hypertrophy, Left Ventricular, Therapy, Cardiology and Cardiovascular Medicine, business, Diagnosi
Abstract

Fabry disease (FD, OMIM 301500) is an X-linked lysosomal storage disease caused by pathogenic variants in the GLA gene. Cardiac involvement is common in FD and is responsible for impaired quality of life and premature death. The classic cardiac involvement is a nonobstructive form of hypertrophic cardiomyopathy, usually manifesting as concentric left ventricular hypertrophy, with subsequent arrhythmogenic intramural fibrosis. Treatment of patients with FD should be directed to prevent the disease progression to irreversible organ damage and organ failure. The aim of this review is to describe the current state of knowledge regarding cardiovascular involvement in FD, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy.

Published
2022

14. The Heart Muscle and Valve Involvement in Marfan Syndrome, Loeys-Dietz Syndromes, and Collagenopathies

Author

Gioacchino Scarano, Francesco Natale, Giuseppe Palmiero, Guglielmina Pepe, Antonello Credendino, Adelaide Fusco, Giuseppe Limongelli, Alessandro Della Corte, Martina Caiazza, Giovanni Signore, Alfredo Mauriello, Chiara Granato, Flavia Chiosi, Michele Lioncino, Maria Giovanna Russo, Annapaola Cirillo, Fiorella Fratta, Emanuele Monda, Stefano Nistri, Fusco, A., Mauriello, A., Lioncino, M., Palmiero, G., Fratta, F., Granato, C., Cirillo, A., Caiazza, M., Monda, E., Credendino, A., Signore, G., Natale, F., Chiosi, F., Scarano, G., Della Corte, A., Nistri, S., Russo, M. G., Limongelli, G., and Pepe, G.

Subjects
Marfan syndrome, Pathology, medicine.medical_specialty, Fibrillinopathie, Connective tissue, Loeys–Dietz syndrome, Cardiomyopathy: mitral valve prolapse, Marfan Syndrome, medicine, Humans, Mitral valve prolapse, Ectopia lentis, Collagenophatie, Aortic dissection, Loeys-Dietz Syndrome, business.industry, Myocardium, TGFbetapathies, General Medicine, medicine.disease, medicine.anatomical_structure, Ehlers–Danlos syndrome, Heart failure, Ehlers-Danlos syndrome, Cardiology and Cardiovascular Medicine, business
Abstract

The inherited connective tissue disorders (Marfan syndrome, Loeys-Dietz syndrome [LDS], and Ehlers-Danlos syndrome [EDS]) involve connective tissue of various organ systems. These pathologies share many common features, nonetheless compared to Marfan syndrome, LDS' cardiovascular manifestations tend to be more severe. In contrast, no association is reported between LDS and the presence of ectopia lentis. The EDS are currently classified into thirteen subtypes. There is substantial symptoms overlap between the EDS subtypes, and they are associated with an increased incidence of cardiovascular abnormalities, such as mitral valve prolapse and aortic dissection.

Published
2022

15. Advanced Heart Failure in Special Population—Pediatric Age

Author

Francesco Di Fraia, Marta Rubino, Roberta Pacileo, Augusto Esposito, Emanuele Monda, Michele Lioncino, Paolo Calabrò, Martina Caiazza, Maria Giovanna Russo, Viviana Tessitore, Alfredo Mauriello, Annapaola Cirillo, Giuseppe Limongelli, Federica Verrillo, Arturo Cesaro, Adelaide Fusco, Monda, E., Lioncino, M., Pacileo, R., Rubino, M., Cirillo, A., Fusco, A., Esposito, A., Verrillo, F., Di Fraia, F., Mauriello, A., Tessitore, V., Caiazza, M., Cesaro, A., Calabro, P., Russo, M. G., and Limongelli, G.

Subjects
Inotrope, medicine.medical_specialty, Waiting Lists, medicine.medical_treatment, Heart failure, Mechanical circulatory support, Epidemiology, Health care, medicine, Humans, Child, Intensive care medicine, Children, Heart transplantation, business.industry, Mortality rate, Gold standard, General Medicine, medicine.disease, Circulatory system, Heart Transplantation, Cardiac transplantation, Heart-Assist Devices, Cardiology and Cardiovascular Medicine, business
Abstract

Heart failure (HF) is an important health care issue in children because of its considerable morbidity and mortality. Advanced HF encompasses patients who remained symptomatic despite optimal medical treatment and includes patients who require special management, such as continuous inotropic therapy, mechanical circulatory support, or heart transplantation (HT). HT is the gold standard for children with advanced HF; nonetheless, the number of suitable donors has not increased for decades, leading to prolonged waitlist times and increased mortality rates. Therefore, the role of pediatric mechanic circulatory support has been assessed as an alternative treatment in patients in whom heart transplant could not be performed. The authors discuss the epidemiology, causes, pathophysiology, clinical manifestation, medical treatment, device therapy, and HT in pediatric HF, and a particular emphasis was posed on patients with advanced HF.

Published
2021

16. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Author

Marco Merlo, Linda Pagura, Aldostefano Porcari, Matteo Cameli, Giuseppe Vergaro, Beatrice Musumeci, Elena Biagini, Marco Canepa, Lia Crotti, Massimo Imazio, Cinzia Forleo, Francesco Cappelli, Federico Perfetto, Stefano Favale, Gianluca Di Bella, Franca Dore, Francesca Girardi, Daniela Tomasoni, Rita Pavasini, Valeria Rella, Giuseppe Palmiero, Martina Caiazza, Maria Cristina Carella, Andrea Igoren Guaricci, Giovanna Branzi, Angelo Giuseppe Caponetti, Giulia Saturi, Giovanni La Malfa, Andrea Carlo Merlo, Alessandro Andreis, Francesco Bruno, Francesca Longo, Maddalena Rossi, Guerino Giuseppe Varrà, Riccardo Saro, Luca Di Ienno, Giuseppe De Carli, Elisa Giacomin, Chiara Arzilli, Giuseppe Limongelli, Camillo Autore, Iacopo Olivotto, Luigi Badano, Gianfranco Parati, Stefano Perlini, Marco Metra, Michele Emdin, Claudio Rapezzi, Gianfranco Sinagra, Merlo, Marco, Pagura, Linda, Porcari, Aldostefano, Cameli, Matteo, Vergaro, Giuseppe, Musumeci, Beatrice, Biagini, Elena, Canepa, Marco, Crotti, Lia, Imazio, Massimo, Forleo, Cinzia, Cappelli, Francesco, Perfetto, Federico, Favale, Stefano, Di Bella, Gianluca, Dore, Franca, Girardi, Francesca, Tomasoni, Daniela, Pavasini, Rita, Rella, Valeria, Palmiero, Giuseppe, Caiazza, Martina, Carella, Maria Cristina, Igoren Guaricci, Andrea, Branzi, Giovanna, Caponetti, Angelo Giuseppe, Saturi, Giulia, La Malfa, Giovanni, Merlo, Andrea Carlo, Andreis, Alessandro, Bruno, Francesco, Longo, Francesca, Rossi, Maddalena, Varrà, Guerino Giuseppe, Saro, Riccardo, Di Ienno, Luca, De Carli, Giuseppe, Giacomin, Elisa, Arzilli, Chiara, Limongelli, Giuseppe, Autore, Camillo, Olivotto, Iacopo, Badano, Luigi, Parati, Gianfranco, Perlini, Stefano, Metra, Marco, Emdin, Michele, Rapezzi, Claudio, Sinagra, Gianfranco, Merlo, M, Pagura, L, Porcari, A, Cameli, M, Vergaro, G, Musumeci, B, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Cappelli, F, Perfetto, F, Favale, S, Di Bella, G, Dore, F, Girardi, F, Tomasoni, D, Pavasini, R, Rella, V, Palmiero, G, Caiazza, M, Carella, M, Igoren Guaricci, A, Branzi, G, Caponetti, A, Saturi, G, La Malfa, G, Merlo, A, Andreis, A, Bruno, F, Longo, F, Rossi, M, Varra, G, Saro, R, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Limongelli, G, Autore, C, Olivotto, I, Badano, L, Parati, G, Perlini, S, Metra, M, Emdin, M, Rapezzi, C, Sinagra, G, and Michele, Emdin

Subjects
Amyloid cardiomyopathy, Echocardiography, Epidemiology, Light chain amyloidosis, Red flags, Transthyretin amyloidosis, Heart Failure, Left, Stroke Volume, Amyloidosis, Middle Aged, Ventricular Function, Left, Humans, Prevalence, Prospective Studies, Cardiomyopathies, Ventricular Function, Light chain amyloidosi, Red flag, Cardiology and Cardiovascular Medicine
Abstract

Aim: To investigate the prevalence of amyloid cardiomyopathy (AC) and the diagnostic accuracy of echocardiographic red flags of AC among consecutive adult patients undergoing transthoracic echocardiogram for reason other than AC in 13 Italian institutions. Methods and results: This is an Italian prospective multicentre study, involving a clinical and instrumental work-up to assess AC prevalence among patients ≥55 years old with an echocardiogram suggestive of AC (i.e. at least one echocardiographic red flag of AC in hypertrophic, non-dilated left ventricles with preserved ejection fraction). The study was registered at ClinicalTrials.gov (NCT04738266). Overall, 381 patients with an echocardiogram suggestive of AC were identified among a cohort of 5315 screened subjects, and 217 patients completed the investigations. A final diagnosis of AC was made in 62 patients with an estimated prevalence of 29% (95% confidence interval 23%–35%). Transthyretin-related AC (ATTR-AC) was diagnosed in 51 and light chain-related AC (AL-AC) in 11 patients. Either apical sparing or a combination of ≥2 other echocardiographic red flags, excluding interatrial septum thickness, provided a diagnostic accuracy >70%. Conclusion: In a cohort of consecutive adults with echocardiographic findings suggestive of AC and preserved left ventricular ejection fraction, the prevalence of AC (either ATTR or AL) was 29%. Easily available echocardiographic red flags, when combined together, demonstrated good diagnostic accuracy.

Published
2022

17. Mitral Valve Prolapse and Sudden Cardiac Death in Athletes at High Risk

Author

Olga Vriz, Irene Landi, Abdalla Eltayeb, Giuseppe Limongelli, Lucio Mos, Pietro Delise, Eduardo Bossone, and Antonello D`Andrea

Subjects
General Medicine, Cardiology and Cardiovascular Medicine
Abstract

Abstract: Mitral valve prolapse (MVP) is the most frequent valvulopathy in the general population, with usually a favourable prognosis. Although it can be associated with some complications, ventricular arrhythmias (VA) and sudden cardiac death (SCD) are the most worrying. The estimated risk of SCD in MVP is between 0.2% to 1.9% per year, including MVP patients with and without severe mitral regurgitation (MR). The association between SCD and MVP is expressed by a phenotype called “malignant MVP” characterized by transthoracic echocardiography (TTE) findings such as bileaflet myxomatous prolapse and mitral annulus disjunction (MAD), ECG findings such as repolarization abnormalities, complex ventricular arrhythmias (c-VAs) and LV fibrosis of papillary muscles (PMs) and inferobasal wall visualized by late gadolinium enhancement cardiac magnetic resonance (LGE-CMR). Therefore, attention is raised for patients with “arrhythmic MVP” characterized from an ECG point of view by frequent premature ventricular contractions (PVCs) arising from one or both PMs as well as by T-wave inversion in the inferolateral leads. In athletes, SCD is the most frequent medical cause of death and in young subjects (< 35 years) usually is due to electrical mechanism affecting who has a silent cardiovascular disease and are not considered per se a cause of increased mortality. In MVP, SCD was reported to happen during sports activity or immediately after and valve prolapse was the only pathological aspect detected. The aim of the present paper is to explore the association between SCD and MVP in athletes, focusing attention on ECG, TTE in particular, and CMR findings that could help to identify subjects at high risk for complex arrhythmias and eventually SCD. In addition, it is also examined if sports activity might predispose patients with MVP to develop major arrhythmias.

Published
2023

18. Diagnostic pathways to wild‐type transthyretin amyloid cardiomyopathy: a multicentre network study

Author

Giacomo Tini, Paolo Milani, Mattia Zampieri, Angelo G. Caponetti, Francesca Fabris, Andrea Foli, Alessia Argirò, Carlotta Mazzoni, Christian Gagliardi, Simone Longhi, Giulia Saturi, Giuseppe Vergaro, Alberto Aimo, Domitilla Russo, Guerino G. Varrà, Matteo Serenelli, Gioele Fabbri, Laura De Michieli, Giuseppe Palmiero, Giuseppe Ciliberti, Samuela Carigi, Eugenio Sessarego, Giulia E. Mandoli, Giulia Ricci Lucchi, Valeria Rella, Enrico Monti, Elisa Gardini, Michela Bartolotti, Lia Crotti, Elisa Merli, Roberta Mussinelli, Pier Filippo Vianello, Matteo Cameli, Francesca Marzo, Federico Guerra, Giuseppe Limongelli, Alberto Cipriani, Stefano Perlini, Laura Obici, Federico Perfetto, Camillo Autore, Italo Porto, Claudio Rapezzi, Gianfranco Sinagra, Marco Merlo, Beatrice Musumeci, Michele Emdin, Elena Biagini, Francesco Cappelli, Giovanni Palladini, and Marco Canepa

Subjects
Wild-type transthyretin cardiac amyloidosis, Cardiac amyloidosis, Epidemiology of cardiac amyloidosis, Tafamidis, Cardiology and Cardiovascular Medicine
Published
2023

19. A Roadmap to Predict Adverse Outcome in Fabry Disease

Author

Emanuele Monda and Giuseppe Limongelli

Subjects
alpha-Galactosidase, Fabry Disease, Humans, Magnetic Resonance Imaging, Cine, Hypertrophy, Left Ventricular, Cardiology and Cardiovascular Medicine, Magnetic Resonance Imaging
Published
2022

20. Diagnosis and management of rare cardiomyopathies in adult and paediatric patients. a position paper of the italian society of cardiology (sic) and italian society of paediatric cardiology (sicp)

Author

Giuseppe Limongelli, Rachele Adorisio, Chiara Baggio, Barbara Bauce, Elena Biagini, Silvia Castelletti, Silvia Favilli, Massimo Imazio, Michele Lioncino, Marco Merlo, Emanuele Monda, Iacopo Olivotto, Vanda Parisi, Francesco Pelliccia, Cristina Basso, Gianfranco Sinagra, Ciro Indolfi, Camillo Autore, Limongelli, G., Adorisio, R., Baggio, C., Bauce, B., Biagini, E., Castelletti, S., Favilli, S., Imazio, M., Lioncino, M., Merlo, M., Monda, E., Olivotto, I., Parisi, V., Pelliccia, F., Basso, C., Sinagra, G., Indolfi, C., Autore, C., Limongelli, Giuseppe, Adorisio, Rachele, Baggio, Chiara, Bauce, Barbara, Biagini, Elena, Castelletti, Silvia, Favilli, Silvia, Imazio, Massimo, Lioncino, Michele, Merlo, Marco, Monda, Emanuele, Olivotto, Iacopo, Parisi, Vanda, Pelliccia, Francesco, Basso, Cristina, Sinagra, Gianfranco, Indolfi, Ciro, and Autore, Camillo

Subjects
Heart Defects, Congenital, Consensus, Cardiomyopathy, diagnosis, Cardiology, Consensu, Cardiovascular System, Management, Congenital, rare cardiovascular disease, Humans, Diagnosis, Rare cardiovascular disease, Child, Cardiomyopathies, cardiomyopathy, management, Cardiology and Cardiovascular Medicine, Heart Defects, Diagnosi, Human, Cardiomyopathie
Abstract

Cardiomyopathies (CMPs) are myocardial diseases in which the heart muscle is structurally and functionally abnormal in the absence of coronary artery disease, hypertension, valvular disease and congenital heart disease sufficient to cause the observed myocardial abnormality. Thought for a long time to be rare diseases, it is now clear that most of the CMPs can be easily observed in clinical practice. However, there is a group of specific heart muscle diseases that are rare in nature whose clinical/echocardiographic phenotypes resemble those of the four classical morphological subgroups of hypertrophic, dilated, restrictive, arrhythmogenic CMPs. These rare CMPs, often but not solely diagnosed in infants and paediatric patients, should be more properly labelled as specific CMPs. Emerging consensus exists that these conditions require tailored investigation and management. Indeed, an appropriate understanding of these conditions is mandatory for early treatment and counselling. At present, however, the multisystemic and heterogeneous presentation of these entities is a challenge for clinicians, and time delay in diagnosis is a significant concern. The aim of this paper is to define practical recommendations for diagnosis and management of the rare CMPs in paediatric or adult age. A modified Delphi method was adopted to grade the recommendations proposed by each member of the writing committee.

Published
2022

21. Transthoracic echocardiography for arrhythmic mitral valve prolapse: Phenotypic characterization as first step

Author

Olga Vriz, Abdulla Eltayeb, Irene Landi, Kashif Anwar, Ali Alenazy, Krassimira Hiristova, Jarek Kasprzak, Antonello D'Andrea, Bandar Amro, Giuseppe Limongelli, Eduardo Bossone, Massimo Imazio, Vriz, Olga, Eltayeb, Abdulla, Landi, Irene, Anwar, Kashif, Alenazy, Ali, Hiristova, Krassimira, Kasprzak, Jarek, D'Andrea, Antonello, Amro, Bandar, Limongelli, Giuseppe, Bossone, Eduardo, and Imazio, Massimo

Subjects
Mitral Valve Prolapse, ventricular arrhythmias, Bundle-Branch Block, Contrast Media, Arrhythmias, Cardiac, Gadolinium, Papillary Muscles, transthoracic echocardiography, Death, Sudden, Cardiac, Phenotype, Echocardiography, Humans, Radiology, Nuclear Medicine and imaging, Cardiology and Cardiovascular Medicine
Abstract

Mitral valve prolapse (MVP) is the most frequent valvulopathy with a prevalence of 1.2%-2.4% in general population and it is characterized by a benign course. Although it can be associated with some complications, ventricular arrhythmias (VA) and sudden cardiac death (SCD) as ultimate expressions, are the most worrying. The estimated risk of SCD in MVP is between 0.2% and 1.9% per year including both MVP patients with left ventricular (LV) dysfunction due to severe MR and MVP patients without significant MR. The latter ones constitute a particular phenotype called "malignant MVP" characterized by bileaflet myxomatous prolapse, ECG repolarization abnormalities and complex VAs (c-VAs) with polymorphic/right bundle branch block morphology (RBBB) and LV fibrosis of the papillary muscles (PMs) and inferobasal wall secondary to mechanical stretching visualized as late gadolinium enhancement (LGE) areas by cardiac magnetic resonance (CMR). In MVP, the first diagnostic approach is transthoracic echocardiography (TTE) that defines the presence of mitral annular disjunction (MAD) which seems to be associated with "arrhythmic MVP" (AMVP). From an ECG point of view, AMVP is characterized by frequent premature ventricular contractions (PVCs) arising from one or both PMs, fascicular tissue, and outflow tract, as well as by T-wave inversion in the inferolateral leads. The aim of the present paper is to describe TTE red flags that could identify MVP patients at high risk to develop complex arrhythmias as supported by the corresponding findings of LGE-CMR and anatomy studies. TTE could be a co-partner in phenotyping high-risk arrhythmic MVP patients.

Published
2022

22. Cardiovascular Involvement in mtDNA Disease

Author

Giulia d'Amati, Simone Sampaolo, Martina Caiazza, Adelaide Fusco, Karim Wahbi, Emanuele Monda, Vicenzo Pota, Giulia Frisso, Maria Giovanna Russo, Gerardo Nigro, Gioacchino Scarano, Michele Lioncino, Vicenzo Simonelli, Giuseppe Limongelli, Lucia Ruggiero, Cristina Mazzaccara, Francesca Dongiglio, and Annapaola Cirillo

Subjects
Mitochondrial DNA, business.industry, Cardiomyopathy, Hypertrophic cardiomyopathy, Dilated cardiomyopathy, General Medicine, Disease, medicine.disease, MELAS syndrome, Bioinformatics, Heart failure, Medicine, Left ventricular noncompaction, Cardiology and Cardiovascular Medicine, business
Abstract

Mitochondrial diseases (MD) include an heterogenous group of systemic disorders caused by sporadic or inherited mutations in nuclear or mitochondrial DNA (mtDNA), causing impairment of oxidative phosphorylation system. Hypertrophic cardiomyopathy is the dominant pattern of cardiomyopathy in all forms of mtDNA disease, being observed in almost 40% of the patients. Dilated cardiomyopathy, left ventricular noncompaction, and conduction system disturbances have been also reported. In this article, the authors discuss the current clinical knowledge on MD, focusing on diagnosis and management of mitochondrial diseases caused by mtDNA mutations.

Published
2022

23. The Risk of Sudden Unexpected Cardiac Death in Children

Author

Michele Lioncino, Martina Caiazza, Annapaola Cirillo, Federica Amodio, Maria Giovanna Russo, Giulia Frisso, Marta Rubino, Adelaide Fusco, Nunzia Borrelli, Giuseppe Limongelli, Silvia Castelletti, Fabio Fimiani, Barbara D'Onofrio, Fabrizio Drago, Paolo Calabrò, Roberta Pacileo, Emanuele Monda, Berardo Sarubbi, and Diego Colonna

Subjects
medicine.medical_specialty, Pediatrics, Myocarditis, business.industry, Sudden unexplained death, General Medicine, medicine.disease, Sudden cardiac death, Heart failure, Epidemiology, medicine, Artery diseases, Cardiology and Cardiovascular Medicine, Cardiac disorders, business
Abstract

"Sudden unexplained death (SUD) is a tragic event for both the family and community, particularly when it occurs in young individuals. Sudden cardiac death (SCD) represents the leading form of SUD and is defined as an unexpected event without an obvious extracardiac cause, occurring within 1 hour after the onset of symptoms. In children, the main causes of SCD are inherited cardiac disorders, whereas coronary artery diseases (congenital or acquired), congenital heart diseases, and myocarditis are rare. The present review examines the current state of knowledge regarding SCD in children, discussing the epidemiology, clinical causes, and prevention strategies."

Published
2022

24. Hypertrophic Cardiomyopathy in RASopathies

Author

Bruce D. Gelb, Michele Lioncino, Fabrizio Drago, Giulio Calcagni, Amy E. Roberts, Marco Tartaglia, Bruno Marino, Carolina Putotto, Giuseppe Limongelli, Maria Cristina Digilio, Federica Verrillo, Maria Giovanna Russo, Paolo Calabrò, Emanuele Monda, and Elisabetta Moscarella

Subjects
medicine.medical_specialty, Heart disease, business.industry, Hypertrophic cardiomyopathy, Ventricular outflow tract obstruction, General Medicine, RASopathy, medicine.disease, Stenosis, Germline mutation, Internal medicine, Heart failure, cardiovascular system, medicine, Cardiology, cardiovascular diseases, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Red flags
Abstract

RASopathies are multisystemic disorders caused by germline mutations in genes linked to the RAS/mitogen-activated protein kinase pathway. Diagnosis of RASopathy can be triggered by clinical clues ("red flags") which may direct the clinician toward a specific gene test. Compared with sarcomeric hypertrophic cardiomyopathy, hypertrophic cardiomyopathy in RASopathies (R-HCM) is associated with higher prevalence of congestive heart failure and shows increased prevalence and severity of left ventricular outflow tract obstruction. Biventricular involvement and the association with congenital heart disease, mainly pulmonary stenosis, have been commonly described in R-HCM. The aim of this review is to assess the prevalence and unique features of R-HCM and to define the available therapeutic options.

Published
2022

26. From the phenotype to precision medicine. an update on the cardiomyopathies diagnostic workflow

Author

Camillo Autore, Riccardo Bariani, Barbara Bauce, Elena Biagini, Marco Canepa, Silvia Castelletti, Lia Crotti, Giuseppe Limongelli, Marco Merlo, Emanuele Monda, Carola Pio Loco detto Gava, Vanda Parisi, Giacomo Tini, and Massimo Imazio

Subjects
dilated cardiomyopathy, cardiac amyloidosis, hypertrophic cardiomyopathy, precision medicine, General Medicine, Cardiology and Cardiovascular Medicine
Published
2023

27. 835 CARDIOMYOPATHIES: IS IT USEFUL TO ANALYZE MINOR GENES?

Author

Cristina Mazzaccara, Ferdinando Barretta, Fabiana Uomo, Martina Caiazza, Emanuele Monda, Raffaella Lombardi, Maria Angela Losi, Giuseppe Limongelli, Valeria D´argenio, and Giulia Frisso

Subjects
Cardiology and Cardiovascular Medicine
Abstract

The diffusion of Next Generation Sequencing (NGS)-based approaches has allowed the identification of cardiomyopathies and channelopathies pathogenic mutations in more than 200 different genes. Since also genes considered uncommon for a clinical phenotype are now included in molecular testing, the detection rate of disease-causing variants is increased. Here, we report the prevalence of genetic variants detected in a cohort of 133 patients, among which 73 showed complex or borderline phenotypes or a positive family history for SCD. The analysis was conducted by analyzing an enlarged panel of 129 genes, including 60 main genes associated to the different genetic cardiomyopathies (HCM, DCM, ACM, LQTS, BrS) and 69 genes without a strong or definitive evidence of disease association according to the NIH-funded Clinical Genome Resource (ClinGen), here named “uncommon genes”. We identified 82 variants, of which 50 (61%) were identified in uncommon genes. Among these, thirty-five (70%) were reported as variants of unknown significance (VUSs), thirteen (26%) as pathogenic (P) or likely pathogenic (LP) mutations and 2 (4%) as novel (likely) benign (B/LB) variants, according to the American College of Medical Genetics (ACMG) classification. Interestingly, about 85% of P/LP variants identified in uncommon genes were in patients showing complex/unclear/borderline phenotypes or a positive family history for SCD. These data support the need for an extended genetic testing, including genes that are not usually explored due to a currently poor association with the clinical phenotype, particularly when phenotype is borderline, in order to increase the diagnostic sensitivity of inherited cardiomyopathies and channelopathies genetic testing.

Published
2022

28. Differences between familial and sporadic dilated cardiomyopathy: ESC EORP Cardiomyopathy & Myocarditis registry

Author

Asselbergs F. W., Sammani A., Elliott P., Gimeno J. R., Tavazzi L., Tendera M., Kaski J. P., Maggioni A. P., Rubis P. P., Jurcut R., Helio T., Calo L., Sinagra G., Zdravkovic M., Olivotto I., Kavoliuniene A., Laroche C., Caforio A. L. P., Charron P., Komissarova S., Chakova N., Niyazova S., Linhart A., Kuchynka P., Palecek T., Podzimkova J., Fikrle M., Nemecek E., Bundgaard H., Tfelt-Hansen J., Theilade J., Thune J. J., Axelsson A., Mogensen J., Henriksen F., Hey T., Nielsen S. K., Videbaek L., Andreasen S., Arnsted H., Saad A., Ali M., Lommi J., Nieminennew M. S., Dubourg O., Mansencal N., Arslan M., Siam Tsieu V., Damy T., Guellich A., Guendouz S., Tissot C. M., Lamine A., Rappeneau S., Hagege A., Desnos M., Bachet A., Hamzaoui M., Isnard R., Legrand L., Maupain C., Gandjbakhch E., Kerneis M., Pruny J. -F., Bauer A., Pfeiffer B., Felix S. B., Dorr M., Kaczmarek S., Lehnert K., Pedersen A. -L., Beug D., Bruder M., Bohm M., Kindermann I., Linicus Y., Werner C., Neurath B., Schild-Ungerbuehler M., Seggewiss H., Neugebauer A., McKeown P., Muir A., McOsker J., Jardine T., Divine G., Lorenzini M., Watkinson O., Wicks E., Iqbal H., Mohiddin S., O'Mahony C., Sekri N., Carr-White G., Bueser T., Rajani R., Clack L., Damm J., Jones S., Sanchez-Vidal R., Smith M., Walters T., Wilson K., Rosmini S., Anastasakis A., Ritsatos K., Vlagkouli V., Forster T., Sepp R., Borbas J., Nagy V., Tringer A., Kakonyi K., Szabo L. A., Maleki M., Noohi Bezanjani F., Amin A., Naderi N., Parsaee M., Taghavi S., Ghadrdoost B., Jafari S., Khoshavi M., Rapezzi C., Biagini E., Corsini A., Gagliardi C., Graziosi M., Longhi S., Milandri A., Ragni L., Palmieri S., Arretini A., Castelli G., Cecchi F., Fornaro A., Tomberli B., Spirito P., Devoto E., Della Bella P., Maccabelli G., Sala S., Guarracini F., Peretto G., Russo M. G., Calabro R., Pacileo G., Limongelli G., Masarone D., Pazzanese V., Rea A., Rubino M., Tramonte S., Valente F., Caiazza M., Cirillo A., Del Giorno G., Esposito A., Gravino R., Marrazzo T., Trimarco B., Losi M. -A., Di Nardo C., Giamundo A., Musella F., Pacelli F., Scatteia A., Canciello G., Caforio A., Iliceto S., Calore C., Leoni L., Perazzolo Marra M., Rigato I., Tarantini G., Schiavo A., Testolina M., Arbustini E., Di Toro A., Giuliani L. P., Serio A., Fedele F., Frustaci A., Alfarano M., Chimenti C., Drago F., Baban A., Lanzillo C., Martino A., Uguccioni M., Zachara E., Halasz G., Re F., Carriere C., Merlo M., Ramani F., Krivickiene A., Tamuleviciute-Prasciene E., Viezelis M., Celutkiene J., Balkeviciene L., Laukyte M., Paleviciute E., Pinto Y., Wilde A., Van Der Heijden J., Van Laake L., De Jonge N., Hassink R., Kirkels J. H., Ajuluchukwu J., Olusegun-Joseph A., Ekure E., Mizia-Stec K., Czekaj A., Sikora-Puz A., Skoczynska A., Wybraniec M., Rubis P., Dziewiecka E., Wisniowska-Smialek S., Bilinska Z., Chmielewski P., Foss-Nieradko B., Michalak E., Stepien-Wojno M., Mazek B., Rocha Lopes L., Almeida A. R., Cruz I., Gomes A. C., Pereira A. R., Brito D., Madeira H., Francisco A. R., Menezes M., Moldovan O., Oliveira Guimaraes T., Silva D., Ginghina C., Mursa A., Popescu B. A., Apetrei E., Militaru S., Mircea Coman I., Frigy A., Fogarasi Z., Kocsis I., Szabo I. A., Fehervari L., Nikitin I., Resnik E., Komissarova M., Lazarev V., Shebzukhova M., Ustyuzhanin D., Blagova O., Alieva I., Kulikova V., Lutokhina Y., Pavlenko E., Varionchik N., Ristic A. D., Seferovic P. M., Veljic I., Zivkovic I., Milinkovic I., Pavlovic A., Radovanovic G., Simeunovic D., Aleksic M., Djokic J., Hinic S., Klasnja S., Mircetic K., Monserrat L., Fernandez X., Garcia-Giustiniani D., Larranaga J. M., Ortiz-Genga M., Barriales-Villa R., Martinez-Veira C., Veira E., Cequier A., Salazar-Mendiguchia J., Manito N., Gonzalez J., Fernandez-Aviles F., Medrano C., Yotti R., Cuenca S., Espinosa M. A., Mendez I., Zatarain E., Alvarez R., Garcia-Pavia P., Briceno A., Cobo-Marcos M., Dominguez F., De Teresa Galvan E., Garcia Pinilla J. M., Abdeselam-Mohamed N., Lopez-Garrido M. A., Morcillo Hidalgo L., Ortega-Jimenez M. V., Robles Mezcua A., Guijarro-Contreras A., Gomez-Garcia D., Robles-Mezcua M., Gimeno Blanes J. R., Castro F. J., Munoz Esparza C., Sabater Molina M., Sorli Garcia M., Lopez Cuenca D., Ripoll-Vera T., Alvarez J., Nunez J., Gomez Y., Sanchez Fernandez P. L., Villacorta E., Avila C., Bravo L., Diaz-Pelaez E., Gallego-Delgado M., Garcia-Cuenllas L., Plata B., Lopez-Haldon J. E., Pena Pena M. L., Cantero Perez E. M., Zorio E., Arnau M. A., Sanz J., Marques-Sulex E., University Medical Center [Utrecht], University College of London [London] (UCL), Hospital Univeristario Virgen de la Arrixaca, University Hospital of Ferrara and Maria Cecilia Hospital, Medical University of Silesia, Université Nice Sophia Antipolis (... - 2019) (UNS), COMUE Université Côte d'Azur (2015-2019) (COMUE UCA), Chair of Medical Biochemistry, Jagiellonian University - Medical College, Chair of Medical Biochemistry, Emergency Hospital Floreasca Bucharest, Emergency Hospital Floreasca Bucharest, 8 Calea Floresca, Sector 1, 014461 Bucharest, Romania, University of Helsinki, Policlinico Casilino (Ospedale Policlinico Casilino), University of Trieste, University of Belgrade [Belgrade], Careggi University Hospital, Lithuanian University of health Sciences [Kaunas], Universita degli Studi di Padova, Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Hospital Clínico Universitario Virgen de la Arrixaca = University Hospital Virgen de la Arrixaca [Murcia], Medical University of Silesia (SUM), Université Nice Sophia Antipolis (1965 - 2019) (UNS), Helsingin yliopisto = Helsingfors universitet = University of Helsinki, Università degli studi di Trieste = University of Trieste, Università degli Studi di Padova = University of Padua (Unipd), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Research Unit on Cardiovascular and Metabolic Diseases (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Sorbonne Université (SU)-Institut de Cardiométabolisme et Nutrition = Institute of Cardiometabolism and Nutrition [CHU Pitié Salpêtrière] (IHU ICAN), CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-CHU Pitié-Salpêtrière [AP-HP], Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), HAL-SU, Gestionnaire, Asselbergs, F. W., Sammani, A., Elliott, P., Gimeno, J. R., Tavazzi, L., Tendera, M., Kaski, J. P., Maggioni, A. P., Rubis, P. P., Jurcut, R., Helio, T., Calo, L., Sinagra, G., Zdravkovic, M., Olivotto, I., Kavoliuniene, A., Laroche, C., Caforio, A. L. P., Charron, P., Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J. J., Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S. K., Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Nieminennew, M. S., Dubourg, O., Mansencal, N., Arslan, M., Siam Tsieu, V., Damy, T., Guellich, A., Guendouz, S., Tissot, C. M., Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J. -F., Bauer, A., Pfeiffer, B., Felix, S. B., Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A. -L., Beug, D., Bruder, M., Bohm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., Mckeown, P., Muir, A., Mcosker, J., Jardine, T., Divine, G., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L. A., Maleki, M., Noohi Bezanjani, F., Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Della Bella, P., Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M. G., Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M. -A., Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Perazzolo Marra, M., Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L. P., Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Carriere, C., Merlo, M., Ramani, F., Krivickiene, A., Tamuleviciute-Prasciene, E., Viezelis, M., Celutkiene, J., Balkeviciene, L., Laukyte, M., Paleviciute, E., Pinto, Y., Wilde, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J. H., Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Rocha Lopes, L., Almeida, A. R., Cruz, I., Gomes, A. C., Pereira, A. R., Brito, D., Madeira, H., Francisco, A. R., Menezes, M., Moldovan, O., Oliveira Guimaraes, T., Silva, D., Ginghina, C., Mursa, A., Popescu, B. A., Apetrei, E., Militaru, S., Mircea Coman, I., Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I. A., Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A. D., Seferovic, P. M., Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larranaga, J. M., Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernandez-Aviles, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M. A., Mendez, I., Zatarain, E., Alvarez, R., Garcia-Pavia, P., Briceno, A., Cobo-Marcos, M., Dominguez, F., De Teresa Galvan, E., Garcia Pinilla, J. M., Abdeselam-Mohamed, N., Lopez-Garrido, M. A., Morcillo Hidalgo, L., Ortega-Jimenez, M. V., Robles Mezcua, A., Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Gimeno Blanes, J. R., Castro, F. J., Munoz Esparza, C., Sabater Molina, M., Sorli Garcia, M., Lopez Cuenca, D., Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Sanchez Fernandez, P. L., Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J. E., Pena Pena, M. L., Cantero Perez, E. M., Zorio, E., Arnau, M. A., Sanz, J., Marques-Sulex, E., Cardiology, ACS - Heart failure & arrhythmias, HUS Heart and Lung Center, Clinicum, Department of Medicine, Kardiologian yksikkö, Helsinki University Hospital Area, and Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU)-Sorbonne Université (SU)

Subjects
Registrie, lcsh:Diseases of the circulatory (Cardiovascular) system, EUROBSERVATIONAL RESEARCH-PROGRAM, Dilated cardiomyopathy, Europe, Familial, Genetic, Prognosis, Sporadic, Adult, Humans, Prospective Studies, Registries, Cardiomyopathies, Cardiomyopathy, Dilated, Myocarditis, Cardiomyopathy, 030204 cardiovascular system & hematology, 0302 clinical medicine, Original Research Articles, Dilated, PILOT, Original Research Article, 030212 general & internal medicine, Prospective cohort study, Ejection fraction, [SDV.MHEP] Life Sciences [q-bio]/Human health and pathology, medicine.diagnostic_test, Guideline adherence, 3. Good health, Cardiology and Cardiovascular Medicine, Human, medicine.medical_specialty, Prognosi, FREQUENCY, 03 medical and health sciences, Internal medicine, medicine, Cardiomyopathie, Genetic testing, business.industry, medicine.disease, Prospective Studie, lcsh:RC666-701, 3121 General medicine, internal medicine and other clinical medicine, Heart failure, business, [SDV.MHEP]Life Sciences [q-bio]/Human health and pathology
Abstract

International audience; AimsDilated cardiomyopathy (DCM) is a complex disease where genetics interplay with extrinsic factors. This study aims to compare the phenotype, management, and outcome of familial DCM (FDCM) and non‐familial (sporadic) DCM (SDCM) across Europe.Methods and resultsPatients with DCM that were enrolled in the prospective ESC EORP Cardiomyopathy & Myocarditis Registry were included. Baseline characteristics, genetic testing, genetic yield, and outcome were analysed comparing FDCM and SDCM; 1260 adult patients were studied (238 FDCM, 707 SDCM, and 315 not disclosed). Patients with FDCM were younger (P < 0.01), had less severe disease phenotype at presentation (P < 0.02), more favourable baseline cardiovascular risk profiles (P ≤ 0.007), and less medication use (P ≤ 0.042). Outcome at 1 year was similar and predicted by NYHA class (HR 0.45; 95% CI [0.25–0.81]) and LVEF per % decrease (HR 1.05; 95% CI [1.02–1.08]. Throughout Europe, patients with FDCM received more genetic testing (47% vs. 8%, P < 0.01) and had higher genetic yield (55% vs. 22%, P < 0.01).ConclusionsWe observed that FDCM and SDCM have significant differences at baseline but similar short‐term prognosis. Whether modification of associated cardiovascular risk factors provide opportunities for treatment remains to be investigated. Our results also show a prevalent role of genetics in FDCM and a non‐marginal yield in SDCM although genetic testing is largely neglected in SDCM. Limited genetic testing and heterogeneity in panels provides a scaffold for improvement of guideline adherence.

Published
2021

29. Beta-blockers in heart failure prognosis: Lessons learned by MECKI Score Group papers

Author

Roberto Badagliacca, Giuseppe Limongelli, Stefania Farina, Silvia Di Marco, Gaia Cattadori, Emanuele Monda, Lucia Tricarico, Michele Correale, Silvia Papa, Cattadori, G., Di Marco, S., Farina, S., Limongelli, G., Monda, E., Badagliacca, R., Papa, S., Tricarico, L., and Correale, M.

Subjects
medicine.medical_specialty, Databases, Factual, Epidemiology, medicine.medical_treatment, Adrenergic beta-Antagonists, heart failure, Decision Support Techniques, Oxygen Consumption, Predictive Value of Tests, Internal medicine, Heart rate, medicine, Humans, Carvedilol, Heart transplantation, Exercise Tolerance, Ejection fraction, business.industry, Reproducibility of Results, Atrial fibrillation, Recovery of Function, medicine.disease, Full Research Papers, Treatment Outcome, Cardiorespiratory Fitness, Echocardiography, Bisoprolol, Heart failure, Exercise Test, β-blockers, Cardiology, prognosis, Cardiology and Cardiovascular Medicine, business, Heart failure with preserved ejection fraction, Biomarkers, prognosi, medicine.drug
Abstract

Heart failure is a complex syndrome affecting several organs including kidney, lungs, liver, brain muscles and sympathetic system. Each of these organs might contribute to its severity and prognosis. The prognosis assessment is critical for a correct heart failure management. It has already been demonstrated that a single parameter is weaker for prognosis than different parameters combined. The Metabolic Exercise test data combined with Cardiac and Kidney Indexes (MECKI) score has been built and validated for heart failure with reduced ejection fraction (HFrEF) patients by considering cardiopulmonary exercise test data combined with clinical, laboratory and echocardiographic measurements. The betablockers treatment is a milestone in the HFrEF management. In the MECKI score database, the association of betablockers treatment with outcome has been investigated in different settings.

Published
2020

30. Progressive right ventricular dysfunction and exercise impairment in patients with heart failure and diabetes mellitus: insights from the T.O.S.CA. Registry

Author

Salzano, A, D'Assante, R, Iacoviello, M, Triggiani, V, Rengo, G, Cacciatore, F, Maiello, C, Limongelli, G, Masarone, D, Sciacqua, A, Perrone Filardi, P, Mancini, A, Volterrani, M, Vriz, O, Castello, R, Passantino, A, Campo, M, Modesti, Pa, De Giorgi, A, Arcopinto, M, Gargiulo, P, Perticone, M, Colao, A, Milano, S, Garavaglia, A, Napoli, R, Suzuki, T, Bossone, E, Marra, Am, Cittadini, A, Saccà, L, Monti, Mg, Matarazzo, M, Stagnaro, Fm, Piccioli, L, Lombardi, A, Panicara, V, Flora, M, Golia, L, Faga, V, Ruocco, A, Della Polla, D, Franco, R, Schiavo, A, Gigante, A, Spina, E, Sicuranza, M, Monaco, F, Apicella, M, Miele, C, Campanino, Ag, Mazza, L, Abete, R, Farro, A, Luciano, F, Polizzi, R, Ferrillo, G, De Luca, M, Crisci, G, Giardino, F, Barbato, M, Ranieri, B, Ferrara, F, Russo, V, Malinconico, M, Citro, R, Guastalamacchia, E, Leone, M, Giagulli, Va, Amarelli, C, Mattucci, I, Calabrò, P, Calabrò, R, D'Andrea, A, Maddaloni, V, Pacileo, G, Scarafile, R, Belfiore, A, Cimellaro, A, Casaretti, L, Paolillo, S, Favuzzi, Amr, Di Segni, C, Bruno, C, Vergani, E, Massaro, R, Grimaldi, F, Frigo, A, Sorrentino, Mr, Malandrino, D, Manfredini, R, Fabbian, F, Puzzo, A, Ragusa, L, Caliendo, L, Carbone, L, Frigiola, A, Generali, T, Giacomazzi, F, De Vincentiis, C, Ballotta, A, Garofalo, P, Malizia, G, Misiano, G, Israr, Mz, Bernieh, D, Cassambai, S, Yazaki, Y, Heaney, Lm, Eagle, Ka, Ventura, Ho, Bruzzese, D, Salzano, Andrea, D'Assante, Roberta, Iacoviello, Massimo, Triggiani, Vincenzo, Rengo, Giuseppe, Cacciatore, Francesco, Maiello, Ciro, Limongelli, Giuseppe, Masarone, Daniele, Sciacqua, Angela, Filardi, Pasquale Perrone, Mancini, Antonio, Volterrani, Maurizio, Vriz, Olga, Castello, Roberto, Passantino, Andrea, Campo, Michela, Modesti, Pietro A, De Giorgi, Alfredo, Arcopinto, Michele, Gargiulo, Paola, Perticone, Maria, Colao, Annamaria, Milano, Salvatore, Garavaglia, Agnese, Napoli, Raffaele, Suzuki, Toru, Bossone, Eduardo, Marra, Alberto M, Cittadini, Antonio, and Misiano, Gabriella

Subjects
Registrie, Heart Failure, Endocrinology, Diabetes and Metabolism, Ventricular Dysfunction, Right, Diabetes, Insulins, Socio-culturale, Stroke Volume, Insulin resistance, Diabete, Cardiopulmonary exercise test, Chronic heart failure, Diabetes, Insulin resistance, Right ventricle, TOSCA Registry, Chronic heart failure, Diabetes Mellitus, Type 2, TOSCA Registry, Exercise Test, Ventricular Function, Right, Humans, Insulin, Right ventricle, Registries, Cardiology and Cardiovascular Medicine, Cardiopulmonary exercise test, TOSCA, Human, LS4_7
Abstract

Background Findings from the T.O.S.CA. Registry recently reported that patients with concomitant chronic heart failure (CHF) and impairment of insulin axis (either insulin resistance—IR or diabetes mellitus—T2D) display increased morbidity and mortality. However, little information is available on the relative impact of IR and T2D on cardiac structure and function, cardiopulmonary performance, and their longitudinal changes in CHF. Methods Patients enrolled in the T.O.S.CA. Registry performed echocardiography and cardiopulmonary exercise test at baseline and at a patient-average follow-up of 36 months. Patients were divided into three groups based on the degree of insulin impairment: euglycemic without IR (EU), euglycemic with IR (IR), and T2D. Results Compared with EU and IR, T2D was associated with increased filling pressures (E/e′ratio: 15.9 ± 8.9, 12.0 ± 6.5, and 14.5 ± 8.1 respectively, p 2) in TD2 vs EU and IR patients was recorded (respectively, 15.8 ± 3.8 ml/Kg/min, 18.4 ± 4.3 ml/Kg/min and 16.5 ± 4.3 ml/Kg/min, p 2 in the T2D group (+ 13% increase in RV dimension, − 21% decline in TAPSE/PAPS ratio and − 20% decrease in peak VO2). Conclusion The higher risk of death and CV hospitalizations exhibited by HF-T2D patients in the T.O.S.CA. Registry is associated with progressive RV ventricular dysfunction and exercise impairment when compared to euglycemic CHF patients, supporting the pivotal importance of hyperglycaemia and right chambers in HF prognosis. Trial registration ClinicalTrials.gov identifier: NCT023358017

Published
2022

31. Clinical phenotype and long-term outcome of patients with Anderson-Fabry disease followed at a multidisciplinary cardiomyopathy centre

Author

F Verrillo, C Fumagalli, L Tassetti, C Zocchi, I Tanini, M Zampieri, N Maurizi, A Tomberli, K Baldini, A Argiro', F Cappelli, F Girolami, G Limongelli, and I Olivotto

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Background Anderson-Fabry disease (AFD) is a rare genetic lysosomal storage disorder which often goes unnoticed until symptom onset requires aggressive treatment. Prompt diagnosis remains crucial. Dedicated multidisciplinary centres are a remarkable opportunity to develop early detection strategies and appropriate management. Purpose To describe the long-term outcomes of patients diagnosed with AFD followed at a Cardiomyopathy Referral Centre according to baseline phenotype (clinical involvement vs sub-clinical involvement). Methods All consecutive patients with AFD visited at our Cardiomyopathy Unit from 1989 to 2020 with >1-year follow-up were retrospectively reviewed. Clinical involvement was defined by one among left ventricular hypertrophy (LVH)>15mm, presence of conduction blocks or cardiac implantable electronic devices (CIED), atrial fibrillation, kidney disease (CKD), stroke or transient ischemic attack (TIA). The primary outcome was disease progression, defined as de novo CIED implantation, increased or de novo LVH, de novo Stroke/TIA, or progression of CKD. Of 110 patients diagnosed with AFD, 86 (78%) with >1-year follow-up were selected. Results Clinical involvement was present in 60 (70%) patients. Age at diagnosis was similar between patients with clinical and subclinical phenotype (42+17 vs 39+15, p=0.277). Patients with clinical involvement were more frequently men (N=25 [42%] vs 4 [15%], p=0.025) and probands (p=0.01). Overall, 1-organ involvement was present in 31 (52%) patients, 2-organ involvement in 24 (40%) patients and 3-organ in 5 (8%). A total of 46 (77%) patients were referred to enzyme replacement therapy (ERT): 52% received agalsidase α, 26% agalsidase β, and 22% migalastat. Among those with a clinical involvement not on ERT, 9 (15%) were scheduled for ERT initiation, 3 (5%) were considered old for ERT, 1 (1.5%) refused ERT and 1 (1.5%) had an allergic reaction to ERT. At 7 [3–12] years follow up, both study cohorts manifested signs and symptoms of disease progression: N=28 (47%) vs N=4 (15%), p=0.01, in patients with vs. without baseline clinical involvement, respectively. The main causes for diseases progression were increase (28%) or de novo LVH (13%), CKD (7%) and CIED implantation (5%). At Cox multivariable analysis, however, after adjustment for age at diagnosis, late onset phenotype and gender, the impact of clinical vs subliclinical involvement on disease progression was lost (Hazard Ratio 0.92, 95% C.I. 0.30–2.81). Conclusion Clinical involvement in AFD is frequent, irrespective of age at diagnosis, being present in more than 1-in-2 patients at baseline. Prompt referral to dedicated centres is warranted for appropriate care as the disease may progress in both patients with and without initial overt clinical phenotype despite optimal medical management. Funding Acknowledgement Type of funding sources: None.

Published
2022

32. HCM-AF South Italy score for prediction of new-onset atrial fibrillation in patients with hypertrophic cardiomyopathy: data from a derivation and validation italian cohorts

Author

G Todde, E Monda, G Canciello, M Lioncino, R Lombardi, M Rubino, F Borrelli, M Caiazza, D Paoletta, G De Simone, G Pacileo, G Esposito, G Limongelli, and M A Losi

Subjects
Cardiology and Cardiovascular Medicine
Abstract

Background Only one score for prediction of new-onset atrial fibrillation (AF) in patients with hypertrophic cardiomyopathy (HCM) has been developed in North America (HCM-AF North America score). Purpose To develop a new score (HCM-AF South Italy score) in an Italian derivation cohort and to test the new score with that from North America, in an Italian validation cohort. Methods A cohort of 228 patients with HCM and without history of AF, followed at referral center 1 for HCM, was used for model development. A cohort of 226 patients without history of AF, followed at referral center 2, was used for external validation. During follow-up (IQR 3–13 years, median 8 years), 59 (26%) patients developed new-onset AF. Data in the development cohort generated the HCM-AF South Italy score, a point score to predict AF probability: left atrial dimension >49 mm (+5 points), age at clinical evaluation 25 mmHg (+2 points), NYHA class >1 (+1 point). Results Patients from the validation cohort were older, had lower prevalence of HCM family history, lower systolic and diastolic blood pressure, taken fewer drugs like beta-blockers, ACE or ARB, calcium-channel blockers, and antiarrhythmic drugs and had lower LVOTO than patients from the derivation cohort, (overall p4 identified patients at risk of AF with a sensitivity of 48%, specificity of 76%, PPV of 20% and NPV of 92%. Conclusion Although derived and tested in little and quite different populations, the performance of the HCM-AF South Italy score was superior to that of the score developed in North America. Funding Acknowledgement Type of funding sources: None.

Published
2022

33. Genetic evaluation in athletes and cascade family screening: reply

Author

Marcella Nunziato, Giuseppe Limongelli, Francesco Salvatore, Emanuele Monda, Limongelli, Giuseppe, Monda, Emanuele, Nunziato, Marcella, and Salvatore, Francesco

Subjects
medicine.medical_specialty, biology, Epidemiology, business.industry, Athletes, Physical therapy, Medicine, Cardiology and Cardiovascular Medicine, business, biology.organism_classification
Published
2021

34. Exercise oscillatory ventilation and prognosis in heart failure patients with reduced and mid‐range ejection fraction

Author

Michele Correale, Massimo F Piepoli, Domenico Scrutinio, Alice Bonomi, Mariantonietta Cicoira, Francesco Bandera, Luca Arcari, Rocco Lagioia, Giuseppe Pacileo, Maurizio Bussotti, M. Metra, Angela Beatrice Scardovi, Marco Guazzi, Giuseppe Limongelli, Massimo Mapelli, Federica Re, Giovanni Quinto Villani, Carlo Vignati, Susanna Sciomer, Claudio Passino, S. Paolillo, Aldo P. Maggioni, Michele Emdin, A. Di Lenarda, P. Perrone Filardi, Enrico Perna, Piergiuseppe Agostoni, Damiano Magrì, Roberto Badagliacca, Gaia Cattadori, Maria Frigerio, Roberto C. Raimondo, I. Mattavelli, Elisa Battaia, Chiara Minà, Francesco Clemenza, Michele Senni, Sara Rovai, Gianfranco Sinagra, Alessandra Magini, Gianfranco Parati, Carolina Lombardi, Elisabetta Salvioni, Ugo Corrà, Rovai, S., Corra, U., Piepoli, M., Vignati, C., Salvioni, E., Bonomi, A., Mattavelli, I., Arcari, L., Scardovi, A. B., Perrone Filardi, P., Lagioia, R., Paolillo, S., Magri, D., Limongelli, G., Metra, M., Senni, M., Scrutinio, D., Guarino, Raimondo, Emdin, M., Lombardi, C., Cattadori, G., Parati, G., Re, F., Cicoira, M., Villani, G. Q., Mina, C., Correale, M., Frigerio, M., Perna, E., Mapelli, M., Magini, A., Clemenza, F., Bussotti, M., Battaia, E., Guazzi, M., Bandera, F., Badagliacca, R., Di Lenarda, A., Pacileo, G., Maggioni, A., Passino, C., Sciomer, S., Sinagra, G., Agostoni, P., Raimondo, R., Rovai, S, Corra, U, Piepoli, M, Vignati, C, Salvioni, E, Bonomi, A, Mattavelli, I, Arcari, L, Scardovi, A, Perrone Filardi, P, Lagioia, R, Paolillo, S, Magri, D, Limongelli, G, Metra, M, Senni, M, Scrutinio, D, Raimondo, R, Emdin, M, Lombardi, C, Cattadori, G, Parati, G, Re, F, Cicoira, M, Villani, G, Mina, C, Correale, M, Frigerio, M, Perna, E, Mapelli, M, Magini, A, Clemenza, F, Bussotti, M, Battaia, E, Guazzi, M, Bandera, F, Badagliacca, R, Di Lenarda, A, Pacileo, G, Maggioni, A, Passino, C, Sciomer, S, Sinagra, G, and Agostoni, P

Subjects
Male, medicine.medical_specialty, Prognosi, medicine.medical_treatment, Left, 030204 cardiovascular system & hematology, Ventricular Function, Left, Exercise oscillatory ventilation, Cardiovascular death, 03 medical and health sciences, 0302 clinical medicine, Risk Factors, Internal medicine, Cardiopulmonary exercise test, Prevalence, medicine, Ventricular Function, Humans, In patient, Registries, Heart failure with mid-range ejection fraction, Prognosis, Aged, Exercise Test, Female, Follow-Up Studies, Heart Failure, Italy, Middle Aged, Retrospective Studies, Stroke Volume, Survival Rate, Survival analysis, cardiopulmonary exercise test, exercise oscillatory ventilation, heart failure with mid-range ejection fraction, prognosis, Ejection fraction, Oscillatory ventilation, business.industry, medicine.disease, Ventricular assist device, Heart failure, Cardiology, Cardiology and Cardiovascular Medicine, business
Abstract

Aims: Exercise oscillatory ventilation (EOV) is a pivotal cardiopulmonary exercise test parameter for the prognostic evaluation of patients with chronic heart failure (HF). It has been described in patients with HF with reduced ejection fraction (50%, HFpEF), but no data are available for patients with HF with mid-range ejection fraction (40–49%, HFmrEF). The aim of the study was to evaluate the prognostic role of EOV in HFmrEF patients. Methods and results: We analysed 1239 patients with HFmrEF and 4482 patients with HFrEF, enrolled in the MECKI score database, with a 2-year follow-up. The study endpoint was the composite of cardiovascular death, urgent heart transplant, and ventricular assist device implantation. We identified EOV in 968 cases (16% and 17% of cases in HFmrEF and HFrEF,. respectively). HFrEF EOV+ patients were significantly older, and their parameters suggested a more severe HF than HFrEF EOV− patients. A similar behaviour was found in HFmrEF EOV+ vs. EOV− patients. Kaplan–Meier analysis, irrespective of ejection fraction, showed that EOV is associated with a worse survival, and that patients with HFrEF and HFmrEF EOV+ had a significantly worse outcome than the EOV− of the same ejection fraction groups. EOV-associated survival differences in HFmrEF patients started after 18 months of follow-up. Conclusion: Exercise oscillatory ventilation has a similar prevalence and ominous prognostic value in both HFmrEF and HFrEF patients, indicating a group of patients in need of a more intensive follow-up and a more aggressive therapy. In HFmrEF, the survival curves between EOV+ and EOV− patients diverged only after 18 months.

Published
2019

35. Lipoprotein(a): a genetic marker for cardiovascular disease and target for emerging therapies

Author

Arturo Cesaro, Matteo Conte, Elisabetta Moscarella, Martina Caiazza, Emanuele Monda, Silvio Coletta, Felice Gragnano, Paolo Calabrò, Alessandra Schiavo, Giuseppe Limongelli, Fabio Fimiani, Carmine Riccio, Marcello Arca, Laura D'Erasmo, Cesaro, Arturo, Schiavo, Alessandra, Moscarella, Elisabetta, Coletta, Silvio, Conte, Matteo, Gragnano, Felice, Fimiani, Fabio, Monda, Emanuele, Caiazza, Martina, Limongelli, Giuseppe, D'Erasmo, Laura, Riccio, Carmine, Arca, Marcello, and Calabrò, Paolo

Subjects
Genetic Markers, Apolipoprotein B, Disease, 030204 cardiovascular system & hematology, Bioinformatics, law.invention, Coronary artery disease, 03 medical and health sciences, Lp(a), cardiovascular risk, metabolism, therapy, 0302 clinical medicine, Randomized controlled trial, Risk Factors, law, medicine, Humans, 030212 general & internal medicine, Risk factor, biology, business.industry, Disease Management, General Medicine, Lipoprotein(a), medicine.disease, Cardiovascular Diseases, Genetic marker, biology.protein, Cardiology and Cardiovascular Medicine, business, Lipoprotein
Abstract

Lipoprotein(a) [Lp(a)] is an established cardiovascular risk factor, and growing evidence indicates its causal association with atherosclerotic disease because of the proatherogenic low-density lipoprotein (LDL)-like properties and the prothrombotic plasminogen-like activity of apolipoprotein(a) [apo(a)]. As genetics significantly influences its plasma concentration, Lp(a) is considered an inherited risk factor of atherosclerotic cardiovascular disease (ASCVD), especially in young individuals. Moreover, it has been suggested that elevated Lp(a) may significantly contribute to residual cardiovascular risk in patients with coronary artery disease and optimal LDL-C levels. Nonetheless, the fascinating hypothesis that lowering Lp(a) could reduce the risk of cardiovascular events - in primary or secondary prevention - still needs to be demonstrated by randomized clinical trials. To date, no specific Lp(a)-lowering agent has been approved for reducing the lipoprotein levels, and current lipid-lowering drugs have limited effects. In the future, emerging therapies targeting Lp(a) may offer the possibility to further investigate the relation between Lp(a) levels and cardiovascular outcomes in randomized controlled trials, ultimately leading to a new era in cardiovascular prevention. In this review, we aim to provide an updated overview of current evidence on Lp(a) as well as currently investigated therapeutic strategies that specifically address the reduction of the lipoprotein.

Published
2020

36. Resilience and response of the congenital cardiac network in Italy during the COVID-19 pandemic

Author

Ugo Vairo, Giuseppe Limongelli, Simona Marcora, Giovanni Battista Luciani, Giovanni Meliota, Biagio Castaldi, Serena Francesca Flocco, Gabriele Egidy Assenza, Roberto Formigari, Silvia Favilli, Gabriele Rinelli, Formigari, Roberto, Marcora, Simona, Luciani, Giovanni Battista, Favilli, Silvia, Egidy Assenza, Gabriele, Rinelli, Gabriele, Meliota, Giovanni, Castaldi, Biagio, Limongelli, Giuseppe, Flocco, Serena, and Vairo, Ugo

Subjects
Adult, Heart Defects, Congenital, medicine.medical_specialty, Heart disease, Coronavirus disease 2019 (COVID-19), medicine.medical_treatment, Cardiology, pediatric cardiac surgery, Disease, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, children, Pandemic, adults, Humans, Medicine, 030212 general & internal medicine, Child, Intensive care medicine, Resilience (network), Societies, Medical, Heart transplantation, business.industry, congenital heart disease, pediatric cardiology, Covid-19, COVID-19, General Medicine, medicine.disease, Italy, Heart failure, Practice Guidelines as Topic, Heart Transplantation, Cardiology and Cardiovascular Medicine, business, Pediatric cardiology
Abstract

The worldwide response to the current COVID-19 pandemic has been focused on how to prevent the disease and to protect the high-risk patient from a potentially lethal infection. Several consensus and guidelines articles have been published dealing with the cardiac patient with systemic hypertension, heart transplant or heart failure. Very little is known about the patients, both in the pediatric as well as in the adult age, with congenital heart disease. The peculiar physiology of the heart with a native, repaired or palliated congenital heart defect deserves a specialized care. Hereby we describe the early recommendations issued by the Italian Society of Pediatric Cardiology and Congenital Heart Disease and how the network of the congenital cardiac institutions in Italy reacted to the threat of potential wide spread of the infection among this fragile kind of patient.

Published
2020

37. Management of nonischemic-dilated cardiomyopathies in clinical practice: a position paper of the working group on myocardial and pericardial diseases of Italian Society of Cardiology

Author

Ugolino Livi, Cristina Basso, Gianfranco Sinagra, G. Lardieri, Barbara Bauce, Antonio Cannatà, Massimo Imazio, Marco Merlo, Giuseppe Limongelli, Marco Masè, Martina Perazzolo Marra, Denise Zaffalon, Camillo Autore, Elena Biagini, Silvia Castelletti, Giovanni Maria Severini, Matteo Dal Ferro, Marco Canepa, Merlo, Marco, Masè, Marco, Cannatà, Antonio, Zaffalon, Denise, Lardieri, Gerardina, Limongelli, Giuseppe, Imazio, Massimo, Canepa, Marco, Castelletti, Silvia, Bauce, Barbara, Biagini, Elena, Livi, Ugolino, Severini, Giovanni M, Dal Ferro, Matteo, Marra, Martina Perazzolo, Basso, Cristina, Autore, Camillo, and Sinagra, Gianfranco

Subjects
Cardiomyopathy, Dilated, medicine.medical_specialty, Consensus, Time Factors, Referral, diagnosis, management, network, nonischemic cardiomyopathy, Clinical Decision-Making, Cardiology, Cardiomyopathy, MEDLINE, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Predictive Value of Tests, Risk Factors, medicine, Humans, 030212 general & internal medicine, Cooperative Behavior, Intensive care medicine, Referral and Consultation, Patient Care Team, Delivery of Health Care, Integrated, business.industry, Dilated cardiomyopathy, General Medicine, Prognosis, medicine.disease, Clinical Practice, Cardiac Imaging Techniques, Heart failure, Heart Function Tests, Pericardial diseases, Position paper, Interdisciplinary Communication, Cardiology and Cardiovascular Medicine, business
Abstract

Nonischemic-dilated cardiomyopathy (NIDCM) is an entity that gathers extremely heterogeneous diseases. This awareness, although leading to continuous improvement in survival, has increased the complexity of NIDCM patients' management. Even though the endorsed 'red-flags' approach helps clinicians in pursuing an accurate etiological definition in clinical practice, it is not clear when and how peripheral centers should interact with referral centers with specific expertise in challenging scenarios (e.g. postmyocarditis and genetically determined dilated cardiomyopathy) and with easier access to second-line diagnostic tools and therapies. This position paper will summarize each step in NIDCM management, highlighting the multiple interactions between peripheral and referral centers, from first-line diagnostic workup and therapy to advanced heart failure management and long-term follow-up.

Published
2020

38. Prevalence and clinical significance of red flags in patients with hypertrophic cardiomyopathy

Author

Giuseppe Limongelli, Emanuele Monda, Paolo Calabrò, Giuseppe Pacileo, Stefania Tramonte, Rita Gravino, Mariagiovanna Russo, Augusto Esposito, Perry M. Elliott, Ernesto Ammendola, Giulia Frisso, Daniele Masarone, Gemma Salerno, Marta Rubino, Felice Gragnano, Martina Caiazza, Limongelli, G., Monda, E., Tramonte, S., Gragnano, F., Masarone, D., Frisso, G., Esposito, A., Gravino, R., Ammendola, E., Salerno, G., Rubino, M., Caiazza, M., Russo, M., Calabro, P., Elliott, P. M., and Pacileo, G.

Subjects
Adult, Male, Systemic disease, medicine.medical_specialty, Adolescent, Population, 030204 cardiovascular system & hematology, hypertrophic cardiomyopathy, red flags, genetic background, Cohort Studies, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Internal medicine, Prevalence, medicine, Humans, Clinical significance, 030212 general & internal medicine, Family history, Child, education, Aged, education.field_of_study, medicine.diagnostic_test, business.industry, Infant, Newborn, Hypertrophic cardiomyopathy, Infant, Cardiomyopathy, Hypertrophic, Middle Aged, medicine.disease, Cross-Sectional Studies, Child, Preschool, Cohort, Etiology, Female, Cardiology and Cardiovascular Medicine, business, Electrocardiography
Abstract

Introduction: We sought to determine prevalence and predictive accuracy of clinical markers (red flags, RF), known to be associated with specific systemic disease in a consecutive cohort of patients with hypertrophic cardiomyopathy (HCM). Methods: We studied 129 consecutive patients (23.7 ± 20.9 years, range 0–74 years; male/female 68%/32%). Pre-specified RF were categorized into five domains: family history; signs/symptoms; electrocardiography; imaging; and laboratory. Sensitivity (Se), specificity (Sp), negative predictive value (NPV), positive predictive value (PPV), and predictive accuracy of RF were analyzed in the genotyped population. Results: In the overall cohort of 129 patients, 169 RF were identified in 62 patients (48%). Prevalence of RF was higher in infants (78%) and in adults >55 years old (58%). Following targeted genetic and clinical evaluation, 94 patients (74%) had a definite diagnosis (sarcomeric HCM or specific causes of HCM). We observed 14 RF in 13 patients (21%) with sarcomeric gene disease, 129 RF in 34 patients (97%) with other specific causes of HCM, and 26 RF in 15 patients (45%) with idiopathic HCM (p < 0.0001). Non-sarcomeric causes of HCM were the most prevalent in ages 55yo. Se, Sp, PPV, NPV and PA of RF were 97%, 70%, 55%, 98% and 77%, respectively. Single and clinical combination of RF (clusters) had an high specificity, NPV and predictive accuracy for the specific etiologies (syndromes/metabolic/infiltrative disorders associated with HCM). Conclusions: An extensive diagnostic work up, focused on analysis of specific diagnostic RF in patients with unexplained LVH facilitates a clinical diagnosis in 74% of patients with HCM.

Published
2020

39. Association between common cardiovascular risk factors and clinical phenotype in patients with hypertrophic cardiomyopathy from the European Society of Cardiology (ESC) EurObservational Research Programme (EORP) Cardiomyopathy/Myocarditis registry

Author

Lopes, Luis R, Losi, Maria-Angela, Sheikh, Nabeel, Laroche, Cécile, Charron, Philippe, Gimeno, Juan, Kaski, Juan P, Maggioni, Aldo P, Tavazzi, Luigi, Arbustini, Eloisa, Brito, Dulce, Celutkiene, Jelena, Hagege, Albert, Linhart, Ales, Mogensen, Jens, Garcia-Pinilla, José Manuel, Ripoll-Vera, Tomas, Seggewiss, Hubert, Villacorta, Eduardo, Caforio, Alida, Elliott, Perry M, Komissarova, S, Chakova, N, Niyazova, S, Linhart, A, Kuchynka, P, Palecek, T, Podzimkova, J, Fikrle, M, Nemecek, E, Bundgaard, H, Tfelt-Hansen, J, Theilade, J, Thune, J J, Axelsson, A, Mogensen, J, Henriksen, F, Hey, T, Nielsen, S K, Videbaek, L, Andreasen, S, Arnsted, H, Saad, A, Ali, M, Lommi, J, Helio, T, Nieminen, M S, Dubourg, O, Mansencal, N, Arslan, M, Tsieu, V Siam, Damy, T, Guellich, A, Guendouz, S, Tissot, C M, Lamine, A, Rappeneau, S, Hagege, A, Desnos, M, Bachet, A, Hamzaoui, M, Charron, P, Isnard, R, Legrand, L, Maupain, C, Gandjbakhch, E, Kerneis, M, Pruny, J-F, Bauer, A, Pfeiffer, B, Felix, S B, Dorr, M, Kaczmarek, S, Lehnert, K, Pedersen, A-L, Beug, D, Bruder, M, Böhm, M, Kindermann, I, Linicus, Y, Werner, C, Neurath, B, Schild-Ungerbuehler, M, Seggewiss, H, Neugebauer, A, Mckeown, P, Muir, A, Mcosker, J, Jardine, T, Divine, G, Elliott, P, Lorenzini, M, Watkinson, O, Wicks, E, Iqbal, H, Mohiddin, S, O'Mahony, C, Sekri, N, Carr-White, G, Bueser, T, Rajani, R, Clack, L, Damm, J, Jones, S, Sanchez-Vidal, R, Smith, M, Walters, T, Wilson, K, Rosmini, S, Anastasakis, A, Ritsatos, K, Vlagkouli, V, Forster, T, Sepp, R, Borbas, J, Nagy, V, Tringer, A, Kakonyi, K, Szabo, L A, Maleki, M, Bezanjani, F Noohi, Amin, A, Naderi, N, Parsaee, M, Taghavi, S, Ghadrdoost, B, Jafari, S, Khoshavi, M, Rapezzi, C, Biagini, E, Corsini, A, Gagliardi, C, Graziosi, M, Longhi, S, Milandri, A, Ragni, L, Palmieri, S, Olivotto, I, Arretini, A, Castelli, G, Cecchi, F, Fornaro, A, Tomberli, B, Spirito, P, Devoto, E, Bella, P Della, Maccabelli, G, Sala, S, Guarracini, F, Peretto, G, Russo, M G, Calabro, R, Pacileo, G, Limongelli, G, Masarone, D, Pazzanese, V, Rea, A, Rubino, M, Tramonte, S, Valente, F, Caiazza, M, Cirillo, A, Del Giorno, G, Esposito, A, Gravino, R, Marrazzo, T, Trimarco, B, Losi, M-A, Nardo, C Di, Giamundo, A, Musella, F, Pacelli, F, Scatteia, A, Canciello, G, Caforio, A, Iliceto, S, Calore, C, Leoni, L, Marra, M Perazzolo, Rigato, I, Tarantini, G, Schiavo, A, Testolina, M, Arbustini, E, Toro, A Di, Giuliani, L P, Serio, A, Fedele, F, Frustaci, A, Alfarano, M, Chimenti, C, Drago, F, Baban, A, Calò, L, Lanzillo, C, Martino, A, Uguccioni, M, Zachara, E, Halasz, G, Re, F, Sinagra, G, Carriere, C, Merlo, M, Ramani, F, Kavoliuniene, A, Krivickiene, A, Tamuleviciute-Prasciene, E, Viezelis, M, Celutkiene, J, Balkeviciene, L, Laukyte, M, Paleviciute, E, Pinto, Y, Wilde, A, Asselbergs, F W, Sammani, A, Van Der Heijden, J, Van Laake, L, De Jonge, N, Hassink, R, Kirkels, J H, Ajuluchukwu, J, Olusegun-Joseph, A, Ekure, E, Mizia-Stec, K, Tendera, M, Czekaj, A, Sikora-Puz, A, Skoczynska, A, Wybraniec, M, Rubis, P, Dziewiecka, E, Wisniowska-Smialek, S, Bilinska, Z, Chmielewski, P, Nieradko, B Foss, Michalak, E, Stepien-Wojno, M, Mazek, B, Lopes, L Rocha, Almeida, A R, Cruz, I, Gomes, A C, Pereira, A R, Brito, D, Madeira, H, Francisco, A R, Menezes, M, Moldovan, O, Guimaraes, T Oliveira, Silva, D, Ginghina, C, Jurcut, R, Mursa, A, Popescu, B A, Apetrei, E, Militaru, S, Coman, I Mircea, Frigy, A, Fogarasi, Z, Kocsis, I, Szabo, I A, Fehervari, L, Nikitin, I, Resnik, E, Komissarova, M, Lazarev, V, Shebzukhova, M, Ustyuzhanin, D, Blagova, O, Alieva, I, Kulikova, V, Lutokhina, Y, Pavlenko, E, Varionchik, N, Ristic, A D, Seferovic, P M, Veljic, I, Zivkovic, I, Milinkovic, I, Pavlovic, A, Radovanovic, G, Simeunovic, D, Zdravkovic, M, Aleksic, M, Djokic, J, Hinic, S, Klasnja, S, Mircetic, K, Monserrat, L, Fernandez, X, Garcia-Giustiniani, D, Larrañaga, J M, Ortiz-Genga, M, Barriales-Villa, R, Martinez-Veira, C, Veira, E, Cequier, A, Salazar-Mendiguchia, J, Manito, N, Gonzalez, J, Fernández-Avilés, F, Medrano, C, Yotti, R, Cuenca, S, Espinosa, M A, Mendez, I, Zatarain, E, Alvarez, R, Pavia, P Garcia, Briceno, A, Cobo-Marcos, M, Dominguez, F, Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N, Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A, Gomez-Garcia, D, Robles-Mezcua, M, Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, Ripoll-Vera, T, Alvarez, J, Nunez, J, Gomez, Y, Fernandez, P L Sanchez, Villacorta, E, Avila, C, Bravo, L, Diaz-Pelaez, E, Gallego-Delgado, M, Garcia-Cuenllas, L, Plata, B, Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E, Arnau, M A, Sanz, J, Marques-Sule, E, Gale, Christopher Peter, Beleslin, Branko, Budaj, Andrzej, Chioncel, Ovidiu, Dagres, Nikolaos, Danchin, Nicolas, Erlinge, David, Emberson, Jonathan, Glikson, Michael, Gray, Alastair, Kayikcioglu, Meral, Maggioni, Aldo, Nagy, Klaudia Vivien, Nedoshivin, Aleksandr, Petronio, Anna-Sonia, Hesselink, Jolien Roo, Wallentin, Lars, Zeymer, Uwe, Caforio, Alida, Blanes, Juan Ramon Gimeno, Charron, Philippe, Elliott, Perry, Kaski, Juan Pablo, Maggioni, Aldo P, Tavazzi, Luigi, Tendera, Michal, Komissarova, S., Chakova, N., Niyazova, S., Linhart, A., Kuchynka, P., Palecek, T., Podzimkova, J., Fikrle, M., Nemecek, E., Bundgaard, H., Tfelt-Hansen, J., Theilade, J., Thune, J J, Axelsson, A., Mogensen, J., Henriksen, F., Hey, T., Nielsen, S K, Videbaek, L., Andreasen, S., Arnsted, H., Saad, A., Ali, M., Lommi, J., Helio, T., Nieminen, M S, Dubourg, O., Mansencal, N., Arslan, M., Tsieu, V Siam, Damy, T., Guellich, A., Guendouz, S., Tissot, C M, Lamine, A., Rappeneau, S., Hagege, A., Desnos, M., Bachet, A., Hamzaoui, M., Charron, P., Isnard, R., Legrand, L., Maupain, C., Gandjbakhch, E., Kerneis, M., Pruny, J-F, Bauer, A., Pfeiffer, B., Felix, S B, Dorr, M., Kaczmarek, S., Lehnert, K., Pedersen, A-L, Beug, D., Bruder, M., Böhm, M., Kindermann, I., Linicus, Y., Werner, C., Neurath, B., Schild-Ungerbuehler, M., Seggewiss, H., Neugebauer, A., McKeown, P., Muir, A., McOsker, J., Jardine, T., Divine, G., Elliott, P., Lorenzini, M., Watkinson, O., Wicks, E., Iqbal, H., Mohiddin, S., O'Mahony, C., Sekri, N., Carr-White, G., Bueser, T., Rajani, R., Clack, L., Damm, J., Jones, S., Sanchez-Vidal, R., Smith, M., Walters, T., Wilson, K., Rosmini, S., Anastasakis, A., Ritsatos, K., Vlagkouli, V., Forster, T., Sepp, R., Borbas, J., Nagy, V., Tringer, A., Kakonyi, K., Szabo, L A, Maleki, M., Bezanjani, F Noohi, Amin, A., Naderi, N., Parsaee, M., Taghavi, S., Ghadrdoost, B., Jafari, S., Khoshavi, M., Rapezzi, C., Biagini, E., Corsini, A., Gagliardi, C., Graziosi, M., Longhi, S., Milandri, A., Ragni, L., Palmieri, S., Olivotto, I., Arretini, A., Castelli, G., Cecchi, F., Fornaro, A., Tomberli, B., Spirito, P., Devoto, E., Bella, P Della, Maccabelli, G., Sala, S., Guarracini, F., Peretto, G., Russo, M G, Calabro, R., Pacileo, G., Limongelli, G., Masarone, D., Pazzanese, V., Rea, A., Rubino, M., Tramonte, S., Valente, F., Caiazza, M., Cirillo, A., Del Giorno, G., Esposito, A., Gravino, R., Marrazzo, T., Trimarco, B., Losi, M-A, Di Nardo, C., Giamundo, A., Musella, F., Pacelli, F., Scatteia, A., Canciello, G., Caforio, A., Iliceto, S., Calore, C., Leoni, L., Marra, M Perazzolo, Rigato, I., Tarantini, G., Schiavo, A., Testolina, M., Arbustini, E., Di Toro, A., Giuliani, L P, Serio, A., Fedele, F., Frustaci, A., Alfarano, M., Chimenti, C., Drago, F., Baban, A., Calò, L., Lanzillo, C., Martino, A., Uguccioni, M., Zachara, E., Halasz, G., Re, F., Sinagra, G., Carriere, C., Merlo, M., Ramani, F., Kavoliūnienė, Aušra, Krivickienė, Aušra, Tamulevičiūtė-Prascienė, Eglė, Vieželis, Mindaugas, Balkevičienė, Laura, Laukytė, M., Palevičiūtė, Eglė, Pinto, Y., Wilde, A., Asselbergs, F W, Sammani, A., Van Der Heijden, J., Van Laake, L., De Jonge, N., Hassink, R., Kirkels, J H, Ajuluchukwu, J., Olusegun-Joseph, A., Ekure, E., Mizia-Stec, K., Tendera, M., Czekaj, A., Sikora-Puz, A., Skoczynska, A., Wybraniec, M., Rubis, P., Dziewiecka, E., Wisniowska-Smialek, S., Bilinska, Z., Chmielewski, P., Foss-Nieradko, B., Michalak, E., Stepien-Wojno, M., Mazek, B., Lopes, L Rocha, Almeida, A R, Cruz, I., Gomes, A C, Pereira, A R, Brito, D., Madeira, H., Francisco, A R, Menezes, M., Moldovan, O., Guimaraes, T Oliveira, Silva, D., Ginghina, C., Jurcut, R., Mursa, A., Popescu, B A, Apetrei, E., Militaru, S., Coman, I Mircea, Frigy, A., Fogarasi, Z., Kocsis, I., Szabo, I A, Fehervari, L., Nikitin, I., Resnik, E., Komissarova, M., Lazarev, V., Shebzukhova, M., Ustyuzhanin, D., Blagova, O., Alieva, I., Kulikova, V., Lutokhina, Y., Pavlenko, E., Varionchik, N., Ristic, A D, Seferovic, P M, Veljic, I., Zivkovic, I., Milinkovic, I., Pavlovic, A., Radovanovic, G., Simeunovic, D., Zdravkovic, M., Aleksic, M., Djokic, J., Hinic, S., Klasnja, S., Mircetic, K., Monserrat, L., Fernandez, X., Garcia-Giustiniani, D., Larrañaga, J M, Ortiz-Genga, M., Barriales-Villa, R., Martinez-Veira, C., Veira, E., Cequier, A., Salazar-Mendiguchia, J., Manito, N., Gonzalez, J., Fernández-Avilés, F., Medrano, C., Yotti, R., Cuenca, S., Espinosa, M A, Mendez, I., Zatarain, E., Alvarez, R., Pavia, P Garcia, Briceno, A., Cobo-Marcos, M., Dominguez, F., Galvan, E De Teresa, Pinilla, J M García, Abdeselam-Mohamed, N., Lopez-Garrido, M A, Hidalgo, L Morcillo, Ortega-Jimenez, M V, Mezcua, A Robles, Guijarro-Contreras, A., Gomez-Garcia, D., Robles-Mezcua, M., Blanes, J R Gimeno, Castro, F J, Esparza, C Munoz, Molina, M Sabater, García, M Sorli, Cuenca, D Lopez, de Mallorca, Palma, Ripoll-Vera, T., Alvarez, J., Nunez, J., Gomez, Y., Fernandez, P L Sanchez, Villacorta, E., Avila, C., Bravo, L., Diaz-Pelaez, E., Gallego-Delgado, M., Garcia-Cuenllas, L., Plata, B., Lopez-Haldon, J E, Pena Pena, M L, Perez, E M Cantero, Zorio, E., Arnau, M A, Sanz, J., Marques-Sule, E., Repositório da Universidade de Lisboa, Lopes, Lr, Losi, Ma, Sheikh, N, Laroche, C, Charron, P, Gimeno, J, Kaski, Jp, Maggioni, Ap, Tavazzi, L, Arbustini, E, Brito, D, Celutkiene, J, Hagege, A, Linhart, A, Mogensen, J, Garcia-Pinilla, Jm, Ripoll-Vera, T, Seggewiss, H, Villacorta, E, Caforio, A, and Elliott, Pm

Subjects
Genotype, Health Policy, Diabetes, Cardiovascular risk factors, Hypertension, Hypertrophic cardiomyopathy, Obesity, Cardiomyopathy, Hypertrophic, Ventricular Dysfunction, Left, diabete, Cardiovascular Diseases, Risk Factors, Heart Disease Risk Factors, cardiovascular risk factor, Humans, Female, 03.02. Klinikai orvostan, Cardiology and Cardiovascular Medicine, Cardiomyopathies, obesity
Abstract

© The Author(s) 2022. Published by Oxford University Press on behalf of the European Society of Cardiology. This is an Open Access article distributed under the terms of the Creative Commons Attribution License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted reuse, distribution, and reproduction in any medium, provided the original work is properly cited., Aims: The interaction between common cardiovascular risk factors (CVRF) and hypertrophic cardiomyopathy (HCM) is poorly studied. We sought to explore the relation between CVRF and the clinical characteristics of patients with HCM enrolled in the EURObservational Research Programme (EORP) Cardiomyopathy registry. Methods and results: 1739 patients with HCM were studied. The relation between hypertension (HT), diabetes (DM), body mass index (BMI) and clinical traits was analyzed. Analyses were stratified according to the presence or absence of a pathogenic variant in a sarcomere gene.The prevalence of HT, DM and obesity (Ob) was 37%, 10%, and 21%, respectively. HT, DM and Ob were associated with older age (p

Published
2022

40. Clinical Manifestations of 22q11.2 Deletion Syndrome

Author

Emilia Cirillo, Bruno Marino, Augusto Esposito, Paolo Versacci, Annalisa Passariello, Giovanni Signore, Berardo Sarubbi, Martina Caiazza, Anwar Baban, Claudio Pignata, Adelaide Fusco, Emanuele Monda, Fiorella Fratta, Michele Lioncino, Maria Giovanna Russo, Annapaola Cirillo, Giuliana Giardino, Carolina Putotto, Annachiara Maratea, Giuseppe Limongelli, Cirillo, A., Lioncino, M., Maratea, A., Passariello, A., Fusco, A., Fratta, F., Monda, E., Caiazza, M., Signore, G., Esposito, A., Baban, A., Versacci, P., Putotto, C., Marino, B., Pignata, C., Cirillo, E., Giardino, G., Sarubbi, B., Limongelli, G., and Russo, M. G.

Subjects
Heart Defects, Congenital, Pathology, medicine.medical_specialty, Long arm, Marfan Syndrome, Aortic arch abnormalitie, DiGeorge syndrome, DiGeorge Syndrome, Medicine, Humans, Deletion syndrome, Multiplex, Di George syndrome, 22q11.2 deletion syndrome, Aortic arch abnormalities, Conotruncal abnormalities, In Situ Hybridization, Fluorescence, medicine.diagnostic_test, business.industry, Genetic disorder, Karyotype, General Medicine, medicine.disease, Conotruncal abnormalitie, Karyotyping, Chromosome Deletion, Cardiology and Cardiovascular Medicine, business, Chromosome 22, Fluorescence in situ hybridization, Human
Abstract

DiGeorge syndrome (DGS), also known as "22q11.2 deletion syndrome" (22q11DS) (MIM # 192430 # 188400), is a genetic disorder caused by hemizygous microdeletion of the long arm of chromosome 22. In the last decades, the introduction of fluorescence in situ hybridization assays, and in selected cases the use of multiplex ligation-dependent probe amplification, has allowed the detection of chromosomal microdeletions that could not be previously identified using standard karyotype analysis. The aim of this review is to address cardiovascular and systemic involvement in children with DGS, provide genotype-phenotype correlations, and discuss their medical management and therapeutic options.

Published
2022

41. Relationship Between Maximal Left Ventricular Wall Thickness and Sudden Cardiac Death in Childhood Onset Hypertrophic Cardiomyopathy

Author

Gabrielle Norrish, Tao Ding, Ella Field, Elena Cervi, Lidia Ziółkowska, Iacopo Olivotto, Diala Khraiche, Giuseppe Limongelli, Aris Anastasakis, Robert Weintraub, Elena Biagini, Luca Ragni, Terrence Prendiville, Sophie Duignan, Karen McLeod, Maria Ilina, Adrián Fernández, Chiara Marrone, Regina Bökenkamp, Anwar Baban, Peter Kubus, Piers E.F. Daubeney, Georgia Sarquella-Brugada, Sergi Cesar, Sabine Klaassen, Tiina H. Ojala, Vinay Bhole, Constancio Medrano, Orhan Uzun, Elspeth Brown, Ferran Gran, Gianfranco Sinagra, Francisco J. Castro, Graham Stuart, Gabriele Vignati, Hirokuni Yamazawa, Roberto Barriales-Villa, Luis Garcia-Guereta, Satish Adwani, Katie Linter, Tara Bharucha, Pablo Garcia-Pavia, Ana Siles, Torsten B. Rasmussen, Margherita Calcagnino, Caroline B. Jones, Hans De Wilde, Toru Kubo, Tiziana Felice, Anca Popoiu, Jens Mogensen, Sujeev Mathur, Fernando Centeno, Zdenka Reinhardt, Sylvie Schouvey, Costas O’Mahony, Rumana Z. Omar, Perry M. Elliott, Juan Pablo Kaski, Institut Català de la Salut, [Norrish G] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. Institute of Cardiovascular Sciences, University College London, United Kingdom. [Ding T] Department of Statistical Science, University College London, United Kingdom. [Field E, Cervi E] Centre for Inherited Cardiovascular Diseases, Great Ormond Street Hospital, London, United Kingdom. [Ziółkowska L] The Children’s Memorial Health Institute, Warsaw, Poland. [Olivotto I] Careggi University Hopsital, Florence, Italy. [Gran F] Vall d’Hebron Hospital Universitari, Barcelona, Spain, Vall d'Hebron Barcelona Hospital Campus, University of Helsinki, Clinicum, Children's Hospital, HUS Children and Adolescents, Norrish, Gabrielle, Ding, Tao, Field, Ella, Cervi, Elena, Ziółkowska, Lidia, Olivotto, Iacopo, Khraiche, Diala, Limongelli, Giuseppe, Anastasakis, Ari, Weintraub, Robert, Biagini, Elena, Ragni, Luca, Prendiville, Terrence, Duignan, Sophie, Mcleod, Karen, Ilina, Maria, Fernandez, Adrian, Marrone, Chiara, Bökenkamp, Regina, Baban, Anwar, Kubus, Peter, Daubeney, Piers E F, Sarquella-Brugada, Georgia, Cesar, Sergi, Klaassen, Sabine, Ojala, Tiina H, Bhole, Vinay, Medrano, Constancio, Uzun, Orhan, Brown, Elspeth, Gran, Ferran, Sinagra, Gianfranco, Castro, Francisco J, Stuart, Graham, Vignati, Gabriele, Yamazawa, Hirokuni, Barriales-Villa, Roberto, Garcia-Guereta, Lui, Adwani, Satish, Linter, Katie, Bharucha, Tara, Garcia-Pavia, Pablo, Siles, Ana, Rasmussen, Torsten B, Calcagnino, Margherita, Jones, Caroline B, De Wilde, Han, Kubo, Toru, Felice, Tiziana, Popoiu, Anca, Mogensen, Jen, Mathur, Sujeev, Centeno, Fernando, Reinhardt, Zdenka, Schouvey, Sylvie, O'Mahony, Costa, Omar, Rumana Z, Elliott, Perry M, and Kaski, Juan Pablo

Subjects
Hypertrophy, Left Ventricular/complications, sistema cardiovascular::corazón::ventrículos cardíacos [ANATOMÍA], Heart Ventricles, FEATURES, enfermedades cardiovasculares::enfermedades cardíacas::paro cardíaco::muerte súbita cardíaca [ENFERMEDADES], Cardiomyopathy, Hypertrophic/complications, CHILDREN, Heart Ventricles/diagnostic imaging, DIAGNOSIS, Cor - Hipertròfia - Complicacions, Risk Assessment, LONG-TERM OUTCOMES, 3123 Gynaecology and paediatrics, Risk Factors, death, Physiology (medical), ADOLESCENTS, human, cardiovascular diseases, humans, death, sudden, Death, Sudden, Cardiac/epidemiology, Retrospective Studies, sudden, child, IDENTIFICATION, Mort sobtada, adult, Defibrillators, Implantable/adverse effects, Cardiovascular Diseases::Heart Diseases::Cardiomyopathies::Cardiomyopathy, Hypertrophic [DISEASES], Cardiomyopathy, Hypertrophic, Cardiovascular Diseases::Heart Diseases::Heart Arrest::Death, Sudden, Cardiac [DISEASES], hypertrophic cardiomyopathy, Defibrillators, Implantable, heart ventricle, enfermedades cardiovasculares::enfermedades cardíacas::miocardiopatías::miocardiopatía hipertrófica [ENFERMEDADES], Death, Sudden, Cardiac, Cardiovascular and Metabolic Diseases, 3121 General medicine, internal medicine and other clinical medicine, RISK-FACTORS, SURVIVAL, cardiovascular system, Hypertrophy, Left Ventricular, hypertrophy, Cardiology and Cardiovascular Medicine, TASK-FORCE, Cor - Ventricle esquerre, Cardiovascular System::Heart::Heart Ventricles [ANATOMY]
Abstract

Background: Maximal left ventricular wall thickness (MLVWT) is a risk factor for sudden cardiac death (SCD) in hypertrophic cardiomyopathy (HCM). In adults, the severity of left ventricular hypertrophy has a nonlinear relationship with SCD, but it is not known whether the same complex relationship is seen in childhood. The aim of this study was to describe the relationship between left ventricular hypertrophy and SCD risk in a large international pediatric HCM cohort. Methods: The study cohort comprised 1075 children (mean age, 10.2 years [±4.4]) diagnosed with HCM (1–16 years) from the International Paediatric Hypertrophic Cardiomyopathy Consortium. Anonymized, noninvasive clinical data were collected from baseline evaluation and follow-up, and 5-year estimated SCD risk was calculated (HCM Risk-Kids). Results: MLVWT Z score was Z scores were associated with heart failure symptoms, unexplained syncope, left ventricular outflow tract obstruction, left atrial dilatation, and nonsustained ventricular tachycardia. One hundred twenty-two patients (71.3%) with MLVWT Z score ≥20 had coexisting risk factors for SCD. Over a median follow-up of 4.9 years (interquartile range, 2.3–9.3), 115 (10.7%) had an SCD event. Freedom from SCD event at 5 years for those with MLVWT Z scores Z score, peaking at Z score +23. The presence of coexisting risk factors had a summative effect on risk. Conclusions: In children with HCM, an inverted U-shaped relationship exists between left ventricular hypertrophy and estimated SCD risk. The presence of additional risk factors has a summative effect on risk. While MLVWT is important for risk stratification, it should not be used either as a binary variable or in isolation to guide implantable cardioverter defibrillator implantation decisions in children with HCM.

Published
2022

42. Old and new equations for maximal heart rate prediction in patients with heart failure and reduced ejection fraction on beta-blockers treatment: results from the MECKI score data set

Author

Magri D., Piepoli M., Gallo G., Corra U., Metra M., Paolillo S., Filardi P. P., Maruotti A., Salvioni E., Mapelli M., Vignati C., Senni M., Limongelli G., Lagioia R., Scrutinio D., Emdin M., Passino C., Parati G., Sinagra G., Correale M., Badagliacca R., Sciomer S., Di Lenarda A., Agostoni P., Apostolo A., Palermo P., Contini M., Farina S., De Martino F., Mantegazza V., Bonomi A., Mattavelli I., Rocca M. D., Pezzuto B., Bandera F., Rovai S., Giordano A., Ricci R., Ferraironi A., Arcari L., Lombardi C., Carubelli V., Matassini M., Shkoza M., Malfatto G., Caravita S., Pacileo G., Cicoira M., Passantino A., Raimondo R., Confalonieri M., Zaffalon D., Carriere C., Ferraretti A., Bussotti M., Marchese G., Iorio A., Pastormerlo L., Gargiulo P., Halasz G., Capelli B., Villani G. Q., Oliva F., Santolamazza C., Re F., La Franca E., Herberg R., Magri, D., Piepoli, M., Gallo, G., Corra, U., Metra, M., Paolillo, S., Filardi, P. P., Maruotti, A., Salvioni, E., Mapelli, M., Vignati, C., Senni, M., Limongelli, G., Lagioia, R., Scrutinio, D., Emdin, M., Passino, C., Parati, G., Sinagra, G., Correale, M., Badagliacca, R., Sciomer, S., Di Lenarda, A., Agostoni, P., Apostolo, A., Palermo, P., Contini, M., Farina, S., De Martino, F., Mantegazza, V., Bonomi, A., Mattavelli, I., Rocca, M. D., Pezzuto, B., Bandera, F., Rovai, S., Giordano, A., Ricci, R., Ferraironi, A., Arcari, L., Lombardi, C., Carubelli, V., Matassini, M., Shkoza, M., Malfatto, G., Caravita, S., Pacileo, G., Cicoira, M., Passantino, A., Raimondo, R., Confalonieri, M., Zaffalon, D., Carriere, C., Ferraretti, A., Bussotti, M., Marchese, G., Iorio, A., Pastormerlo, L., Gargiulo, P., Halasz, G., Capelli, B., Villani, G. Q., Oliva, F., Santolamazza, C., Re, F., La Franca, E., and Herberg, R.

Subjects
MECKI score, cardiopulmonary exercise test, chronotropic incompetence, heart failure, maximal heart rate, kidney, Epidemiology, exercise test, Chronotropic incompetence, ventricular dysfunction, Heart failure, test, mecki score, adrenergic beta-antagonists, heart rate, humans, stroke volume, left, Ventricular Dysfunction, Left, Cardiology and Cardiovascular Medicine, Maximal heart rate, Cardiopulmonary exercise test
Abstract

Aims Predicting maximal heart rate (MHR) in heart failure with reduced ejection fraction (HFrEF) still remains a major concern. In such a context, the Keteyian equation is the only one derived in a HFrEF cohort on optimized β-blockers treatment. Therefore, using the Metabolic Exercise combined with Cardiac and Kidney Indexes (MECKI) data set, we looked for a possible MHR equation, for an external validation of Keteyien formula and, contextually, for accuracy of the historical MHR formulas and their relationship with the HR measured at the anaerobic threshold (AT). Methods and results Data from 3487 HFrEF outpatients on optimized β-blockers treatment from the MECKI data set were analyzed. Besides excluding all possible confounders, the new equation was derived by using HR data coming from maximal cardiopulmonary exercise test. The simplified derived equation was [109–(0.5*age) + (0.5*HR rest) + (0.2*LVEF)–(5 if haemoglobin Conclusion The derived equation to estimate the MHR in HFrEF patients, by accounting also for the systolic dysfunction degree and anaemia, improved slightly the Keteyian formula. Both formulas might be helpful in identifying the true maximal effort during an exercise test and the intensity domain during a rehabilitation programme.

Published
2022

43. Early-onset MINOCA: Prognostic implications and considerations for practice

Author

Felice Gragnano, Arturo Cesaro, Francesco Pelliccia, Giuseppe Limongelli, Gragnano, F., Cesaro, A., Pelliccia, F., and Limongelli, G.

Subjects
coronary artery disease, early onset myocardial infarction, MINOCA, myocardial infarction, Myocardial infarction, Prognosi, Humans, Early onset myocardial infarction, Cardiology and Cardiovascular Medicine, Prognosis, Coronary Angiography, Coronary Vessels, Coronary artery disease, Coronary Vessel, Human
Published
2022

44. Revisiting a Prognosticating Algorithm from Cardiopulmonary Exercise Testing in Chronic Heart Failure (from the MECKI Score Population)

Author

Ugo Corrà, Massimo Francesco Piepoli, Andrea Giordano, Francesco Doni, Alessandra Magini, Alice Bonomi, Elisabetta Salvioni, Rocco Lagioia, Giuseppe Limongelli, Stefania Paolillo, Damiano Magrì, Pasquale Perrone Filardi, Gianfranco Sinagra, Angela B. Scardovi, Marco Metra, Michele Senni, Domenico Scrutinio, Rosa Raimondo, Michele Emdin, Gaia Cattadori, Gianfranco Parati, Federica Re, Mariantonietta Cicoira, Chiara Minà, Michele Correale, Maria Frigerio, Enrico Perna, Maurizio Bussotti, Elisa Battaia, Marco Guazzi, Francesco Bandera, Roberto Badagliacca, Andrea Di Lenarda, Aldo Maggioni, Claudio Passino, Susanna Sciomer, Giuseppe Pacileo, Massimo Mapelli, Carlo Vignati, Francesco Clemenza, Carlo Lombardi, Piergiuseppe Agostoni, Corrà, Ugo, Piepoli, Massimo Francesco, Giordano, Andrea, Doni, Francesco, Magini, Alessandra, Bonomi, Alice, Salvioni, Elisabetta, Lagioia, Rocco, Limongelli, Giuseppe, Paolillo, Stefania, Magrì, Damiano, Filardi, Pasquale Perrone, Sinagra, Gianfranco, Scardovi, Angela B, Metra, Marco, Senni, Michele, Scrutinio, Domenico, Raimondo, Rosa, Emdin, Michele, Cattadori, Gaia, Parati, Gianfranco, Re, Federica, Cicoira, Mariantonietta, Minà, Chiara, Correale, Michele, Frigerio, Maria, Perna, Enrico, Bussotti, Maurizio, Battaia, Elisa, Guazzi, Marco, Bandera, Francesco, Badagliacca, Roberto, Lenarda, Andrea Di, Maggioni, Aldo, Passino, Claudio, Sciomer, Susanna, Pacileo, Giuseppe, Mapelli, Massimo, Vignati, Carlo, Clemenza, Francesco, Lombardi, Carlo, and Agostoni, Piergiuseppe

Subjects
Heart Failure, Oxygen Consumption, Adrenergic beta-Antagonists, Exercise Test, Humans, Stroke Volume, HFrEF, Prognosis, Cardiology and Cardiovascular Medicine, Algorithms, Ventricular Function, Left
Abstract

Cardiopulmonary exercise testing is a prognostic tool in heart failure with reduced left ventricular ejection fraction (HFrEF). Prognosticating algorithms have been proposed, but none has been validated. In 2017, a predictive algorithm, based on peak oxygen consumption (VO2), ventilatory response to exercise (ventilation [VE] carbon dioxide production [VCO2], the VE/VCO2 slope), exertional oscillatory ventilation (EOV), and peak respiratory exchange ratio, was recommended, according treatment with β blockers: patients with HFrEF registered in the metabolic exercise test data combined with cardiac and kidney indexes (MECKIs) database were used to validated this algorithm. According to the inclusion/exclusion criteria, 4,683 MECKI patients with HFrEF were enrolled. At 3years follow-up, the end point was cardiovascular death and urgent heart transplantation (cardiovascular events [CV]). CV events occurred in 25% in patients without β blockers, whereas those with β-blockers had 11% (p 10

Published
2022

45. The Role of New Imaging Technologies in the Diagnosis of Cardiac Amyloidosis

Author

Luigi Ascione, Francesca Dongiglio, Raffaele Ascione, Laura Capodicasa, Maria Luisa De Rimini, Federica Verrillo, Pio Caso, Giuseppe Palmiero, Emanuele Monda, Martina Caiazza, Michele Lioncino, Erica Vetrano, Marta Rubino, Giuseppe Cerciello, Fiore Manganelli, Davide D'Arienzo, Mara Catalano, Francesco Di Fraia, Giuseppe Limongelli, Paolo Golino, Palmiero, G., Vetrano, E., Rubino, M., Monda, E., Dongiglio, F., Lioncino, M., Di Fraia, F., Caiazza, M., Verrillo, F., Capodicasa, L., Cerciello, G., Manganelli, F., Catalano, M., D'Arienzo, D., De Rimini, M. L., Ascione, R., Golino, P., Caso, P., Ascione, L., and Limongelli, G.

Subjects
medicine.medical_specialty, Response to therapy, Cardiac magnetic resonance, Prognosi, Disease, Multimodal Imaging, Multimodality imaging, Cardiac amyloidosi, medicine, Amyloidosi, Humans, biology, business.industry, Disease progression, General Medicine, Amyloidosis, medicine.disease, Clinical disease, Prognosis, Transthyretin, Cardiac amyloidosis, Echocardiography, Heart failure, Time course, biology.protein, Radiology, Cardiology and Cardiovascular Medicine, business, Cardiomyopathies, Nuclear imaging, Human
Abstract

Cardiac amyloidosis is an infiltrative disorder caused by transthyretin or immunoglobulin free light-chain deposition, which determines clinical disease with similar phenotype but different time course, prognosis and therapy. Multimodality imaging is the cornerstone for disease diagnosis and management. Multimodality imaging has revolutionized the approach to the disease favoring its awareness and simplifying its diagnosis, especially in ATTR cardiac amyloidosis. This describes the different imaging tools, from the traditional to the more novel ones, and highlights the different approach in each different setting (prognosis, subtyping, prognosis, monitoring disease progression, and response to therapy).

Published
2022

46. Dose-dependent efficacy of β-blocker in patients with chronic heart failure and atrial fibrillation

Author

Michele Correale, Domenico Scrutinio, Stefania Paolillo, Gaia Cattadori, Marco Metra, Gianfranco Sinagra, Jeness Campodonico, Giuseppe Pacileo, Simone Binno, Massimo Mapelli, Angela Beatrice Scardovi, Marco Guazzi, Carlo Vignati, Susanna Sciomer, Massimo F Piepoli, Michele Emdin, Claudio Passino, Elisa Battaia, Pasquale Perrone Filardi, Andrea Di Lenarda, Piergiuseppe Agostoni, Carlo Lombardi, Fabrizio Veglia, Aldo P. Maggioni, Damiano Magrì, Giuseppe Limongelli, Chiara Minà, Federica Re, Elisabetta Salvioni, Maurizio Bussotti, Ugo Corrà, Francesco Clemenza, Michele Senni, Roberto Badagliacca, Rosa Raimondo, Rocco Lagioia, Alice Bonomi, Mariantonietta Cicoira, Maria Frigerio, Enrico Perna, Gianfranco Parati, Campodonico, Jene, Piepoli, Massimo, Clemenza, Francesco, Bonomi, Alice, Paolillo, Stefania, Salvioni, Elisabetta, Corrà, Ugo, Binno, Simone, Veglia, Fabrizio, Lagioia, Rocco, Sinagra, Gianfranco, Cattadori, Gaia, Scardovi, Angela B., Metra, Marco, Senni, Michele, Scrutinio, Domenico, Raimondo, Rosa, Emdin, Michele, Magrì, Damiano, Parati, Gianfranco, Re, Federica, Cicoira, Mariantonietta, Minà, Chiara, Limongelli, Giuseppe, Correale, Michele, Frigerio, Maria, Bussotti, Maurizio, Perna, Enrico, Battaia, Elisa, Guazzi, Marco, Badagliacca, Roberto, Di Lenarda, Andrea, Maggioni, Aldo, Passino, Claudio, Sciomer, Susanna, Pacileo, Giuseppe, Mapelli, Massimo, Vignati, Carlo, Lombardi, Carlo, Filardi, Pasquale Perrone, Agostoni, Piergiuseppe, Campodonico, J., Piepoli, M., Clemenza, F., Bonomi, A., Paolillo, S., Salvioni, E., Corra, U., Binno, S., Veglia, F., Lagioia, R., Sinagra, G., Cattadori, G., Scardovi, A. B., Metra, M., Senni, M., Scrutinio, D., Raimondo, R., Emdin, M., Magri, D., Parati, G., Re, F., Cicoira, M., Mina, C., Limongelli, G., Correale, M., Frigerio, M., Bussotti, M., Perna, E., Battaia, E., Guazzi, M., Badagliacca, R., Di Lenarda, A., Maggioni, A., Passino, C., Sciomer, S., Pacileo, G., Mapelli, M., Vignati, C., Lombardi, C., Filardi, P. P., Agostoni, P., Campodonico, J, Piepoli, M, Clemenza, F, Bonomi, A, Paolillo, S, Salvioni, E, Corrà, U, Binno, S, Veglia, F, Lagioia, R, Sinagra, G, Cattadori, G, Scardovi, A, Metra, M, Senni, M, Scrutinio, D, Raimondo, R, Emdin, M, Magrì, D, Parati, G, Re, F, Cicoira, M, Minà, C, Limongelli, G, Correale, M, Frigerio, M, Bussotti, M, Perna, E, Battaia, E, Guazzi, M, Badagliacca, R, Di Lenarda, A, Maggioni, A, Passino, C, Sciomer, S, Pacileo, G, Mapelli, M, Vignati, C, Lombardi, C, Filardi, P, and Agostoni, P

Subjects
Male, medicine.medical_specialty, Prognosi, medicine.medical_treatment, Cardiopulmonary exercise test, Prognosis, β-Blockers, Atrial fibrillation, Cardiology and Cardiovascular Medicine, Adrenergic beta-Antagonists, Dose dependence, heart failure, atrial fibrillation, prognosis, beta-blocker, cardiopulmonary exercise test, 030204 cardiovascular system & hematology, Follow-Up Studie, 03 medical and health sciences, 0302 clinical medicine, Retrospective Studie, Internal medicine, Atrial Fibrillation, medicine, Humans, In patient, 030212 general & internal medicine, Survival analysis, Aged, Retrospective Studies, Heart Failure, Entire population, Dose-Response Relationship, Drug, business.industry, Confounding, Adrenergic beta-Antagonist, Atrial fibrillation, Middle Aged, medicine.disease, Death, Treatment Outcome, Ventricular assist device, Heart failure, beta-blocker, Cardiology, β-Blockers, Female, business, Human, Follow-Up Studies
Abstract

The usefulness of β-blockers in heart failure (HF) patients with permanent atrial fibrillation (AF) has been questioned. Background: The usefulness of β-blockers in heart failure (HF) patients with permanent atrial fibrillation (AF) has been questioned. Methods and results: We analyzed data from HF patients (958 patients (801 males, 84%, age 67 ± 11 years)) with AF enrolled in the MECKI score database. We evaluated prognosis (composite of cardiovascular death, urgent heart transplant, or left ventricular assist device) of patients receiving β-blockers (n = 777, 81%) vs. those not treated with β-blockers (n = 181, 19%). We also analyzed the role β1-selectivity and the role of daily β-blocker dose. To account for different HF severity, Kaplan-Meier survival curves were normalized for relevant confounding factors and for treatment strategies. Dose was available in 629 patients. Median follow-up was 1312 (577–2304) days in the entire population, 1203 (614–2420) and 1325 (569–2300) days in patients not receiving and receiving β-blockers. 224 (23%, 54/1000 events/year), 163 (21%, 79/1000 events/year), and 61 (34%, 49/1000 events/year) events were recorded, respectively. At 10-year patients treated with β-blockers had a better outcome (HR 0.447, p < 0.01) with no effects as regards β1selective drugs (53%) vs. β1-β2 blockers (47%). Survival improved in parallel with β-blocker dose increase (HR 0.296, 0.496, 0.490 for the high, medium, and low dose vs. no β-blockers, p < 0.0001). Conclusion: HF patients with AF taking a β-blocker have a better outcome (with a survival improvement in parallel with daily dose but no differences as regards β1 selectivity) but this does not mean that β-blockers improve outcomes in these patients as we cannot control for all the potential confounders associated with β-blocker use.

Published
2018

47. Clinical presentation and long-term outcomes of infantile hypertrophic cardiomyopathy: a European multicentre study

Author

Katie Linter, Gali S. Kolt, Satish Adwani, Gabrielle Norrish, Fabrizio Drago, Marta Rubino, Maria Ilina, Vinay Bhole, Kathleen Dady, Tara Bharucha, Elspeth Brown, Iacopo Olivotto, Laz Lazarou, Graham Stuart, Martina Caiazza, Amos Wong, Caroline Jones, Amrit Lota, Grazia Delle Donne, Orhan Uzun, Anca Popoiu, Silvia Passantino, Jon Searle, Juan Pablo Kaski, Silvia Favilli, Lidia Ziółkowska, Giuseppe Limongelli, Ella Field, Karen McLeod, Elena Cervi, Piers E.F. Daubeney, Ruth McGowan, Zdenka Reinhardt, Anwar Baban, Sujeev Mathur, Norrish, G., Kolt, G., Cervi, E., Field, E., Dady, K., Ziolkowska, L., Olivotto, I., Favilli, S., Passantino, S., Limongelli, G., Caiazza, M., Rubino, M., Baban, A., Drago, F., Mcleod, K., Ilina, M., Mcgowan, R., Stuart, G., Bhole, V., Uzun, O., Wong, A., Lazarou, L., Brown, E., Daubeney, P. E. F., Lota, A., Delle Donne, G., Linter, K., Mathur, S., Bharucha, T., Adwani, S., Searle, J., Popoiu, A., Jones, C. B., Reinhardt, Z., and Kaski, J. P.

Subjects
Male, Pediatrics, medicine.medical_specialty, Systole, Cardiomyopathy, Disease, Ventricular Function, Left, Cohort Studies, Infant‐onset, medicine, Humans, Diseases of the circulatory (Cardiovascular) system, Genetic Testing, Genetic testing, medicine.diagnostic_test, business.industry, Hazard ratio, Hypertrophic cardiomyopathy, Original Articles, Cardiomyopathy, Hypertrophic, medicine.disease, Prognosis, Hypertrophic, Infant-onset, Inborn error of metabolism, RC666-701, Cohort, Etiology, Original Article, Female, Cardiology and Cardiovascular Medicine, business
Abstract

Aims: Children presenting with hypertrophic cardiomyopathy (HCM) in infancy are reported to have a poor prognosis, but this heterogeneous group has not been systematically characterized. This study aimed to describe the aetiology, phenotype, and outcomes of infantile HCM in a well-characterized multicentre European cohort. Methods and results: Of 301 children diagnosed with infantile HCM between 1987 and 2019 presenting to 17 European centres [male n=187 (62.1%)], underlying aetiology was non-syndromic (n=138, 45.6%), RASopathy (n=101, 33.6%), or inborn error of metabolism (IEM) (n=49, 16.3%). The most common reasons for presentation were symptoms (n=77, 29.3%), which were more prevalent in those with syndromic disease (n=62, 61.4%, P&nbsp

Published
2021

48. Combined Effect of Mediterranean Diet and Aerobic Exercise on Weight Loss and Clinical Status in Obese Symptomatic Patients with Hypertrophic Cardiomyopathy

Author

Giovanni Messina, Iacopo Olivotto, Giuseppe Pacileo, Eduardo Bossone, Marta Rubino, Marcellino Monda, Paolo Calabrò, Olga Scudiero, Giuseppe Limongelli, Antonello D’Aponte, Sharlene M. Day, Martina Caiazza, Elisabetta Moscarella, Emanuele Monda, Giuseppe Palmiero, Augusto Esposito, Monda, E, D'Aponte, A, Caiazza, M, Rubino, M, Esposito, A, Palmiero, G, Moscarella, E, Messina, G, Calabro, P, Scudiero, O, Pacileo, G, Monda, M, Bossone, E, Day, Sm, Olivotto, I, Limongelli, G, Limongelli, G., Monda, E., D'Aponte, A., Caiazza, M., Rubino, M., Esposito, A., Palmiero, G., Moscarella, E., Messina, G., Calabro', P., Scudiero, O., Pacileo, G., Monda, M., Bossone, E., Day, S. M., and Olivotto, I.

Subjects
medicine.medical_specialty, Mediterranean diet, Comorbidity, 030204 cardiovascular system & hematology, Diet, Mediterranean, 03 medical and health sciences, 0302 clinical medicine, Weight loss, Internal medicine, medicine.artery, Weight Loss, medicine, Aerobic exercise, Humans, cardiovascular diseases, 030212 general & internal medicine, Obesity, Exercise, business.industry, Hypertrophic cardiomyopathy, General Medicine, Cardiomyopathy, Hypertrophic, medicine.disease, Weight Lo, Blood pressure, Heart failure, Pulmonary artery, cardiovascular system, Cardiology, Exercise Test, medicine.symptom, Cardiology and Cardiovascular Medicine, business, Body mass index, Human
Abstract

We evaluated the impact of weight loss (WL) using a Mediterranean diet and mild-to-moderate–intensity aerobic exercise program, on clinical status of obese, symptomatic patients with hypertrophic cardiomyopathy (HCM). Compared with nonresponders, responders showed a significant reduction of left atrial diameter, left atrial volume index (LAVI), E/Eʹaverage, pulmonary artery systolic pressure (PASP), and a significant increase in VO2max (%) and peak workload. Body mass index changes correlated with reduction in left atrial diameter, LAVI, E/Eʹaverage, PASP, and increase of VO2max (mL/Kg/min), VO2max (%), peak workload. Mediterranean diet and aerobic exercise is associated with clinical-hemodynamic improvement in obese symptomatic HCM patients.

Published
2021

49. Rare Cardiovascular Diseases: From Genetics to Personalized Medicine

Author

Michele Lioncino, Emanuele Monda, Giuseppe Limongelli, and Eduardo Bossone

Subjects
medicine.medical_specialty, Cardiovascular Diseases, business.industry, medicine, Humans, Heart, General Medicine, Personalized medicine, Precision Medicine, Cardiology and Cardiovascular Medicine, Intensive care medicine, business, Cardiovascular System
Published
2022

50. Impact of Regular Physical Activity on Aortic Diameter Progression in Paediatric Patients with Bicuspid Aortic Valve

Author

Marco Di Maio, Adelaide Fusco, Eduardo Bossone, Maria Giovanna Russo, Marta Rubino, Felice Gragnano, Giuseppe Palmiero, Rodolfo Citro, Simon C. Body, Marcellino Monda, Augusto Esposito, Martina Caiazza, Alessandro Della Corte, Emanuele Monda, Arturo Cesaro, Stefano Nistri, Paolo Calabrò, Giulia Frisso, Maria Pina Giugliano, Francesco Di Fraia, Annapaola Cirillo, Giuseppe Limongelli, Monda, Emanuele, Fusco, Adelaide, Della Corte, Alessandro, Caiazza, Martina, Cirillo, Annapaola, Gragnano, Felice, Giugliano, Maria Pina, Citro, Rodolfo, Rubino, Marta, Esposito, Augusto, Cesaro, Arturo, Di Fraia, Francesco, Palmiero, Giuseppe, Di Maio, Marco, Monda, Marcellino, Calabrò, Paolo, Frisso, Giulia, Nistri, Stefano, Bossone, Eduardo, Body, Simon C., Russo, Maria Giovanna, Limongelli, Giuseppe, Monda, E., Fusco, A., Della Corte, A., Caiazza, M., Cirillo, A., Gragnano, F., Giugliano, M. P., Citro, R., Rubino, M., Esposito, A., Cesaro, A., Di Fraia, F., Palmiero, G., Di Maio, M., Monda, M., Calabro, P., Frisso, G., Nistri, S., Bossone, E., Body, S. C., Russo, M. G., and Limongelli, G.

Subjects
Male, medicine.medical_specialty, Adolescent, Bicuspid aortic valve, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, Bicuspid Aortic Valve Disease, Internal medicine, medicine.artery, Ascending aorta, Aortopathy, Medicine, Humans, Child, Exercise, Paediatric patients, Retrospective Studies, Aortic dissection, Aorta, business.industry, Paediatrics, Vascular surgery, medicine.disease, Cardiac surgery, Echocardiography, 030220 oncology & carcinogenesis, Aortic Valve, Case-Control Studies, Pediatrics, Perinatology and Child Health, Cohort, Cardiology, cardiovascular system, Disease Progression, Female, Original Article, Cardiology and Cardiovascular Medicine, business
Abstract

Patients with bicuspid aortic valve (BAV) have an increased risk of aortic dilation and aortic dissection or rupture. The impact of physical training on the natural course of aortopathy in BAV patients remains unclear. The aim of this study was to evaluate the impact of regular physical activity on aortic diameters in a consecutive cohort of paediatric patients with BAV. Consecutive paediatric BAV patients were evaluated and categorized into two groups: physically active and sedentary subjects. Only the subjects with a complete 2-year follow-up were included in the study. To evaluate the potential impact of physical activity on aortic size, aortic diameters were measured at the sinus of Valsalva and mid-ascending aorta using echocardiography. We defined aortic diameter progression the increase of aortic diameter ≥ 10% from baseline. Among 90 BAV patients (11.5 ± 3.4 years of age, 77% males), 53 (59%) were physically active subjects. Compared to sedentary, physically active subjects were not significantly more likely to have > 10% increase in sinus of Valsalva (13% vs. 8%, p-value = 0.45) or mid-ascending aorta diameter (9% vs. 13%, p-value = 0.55) at 2 years follow-up, both in subjects with sinus of Valsalva diameter progression (3.7 ± 1.0 mm vs. 3.5 ± 0.8 mm, p-value = 0.67) and in those with ascending aorta diameter progression (3.0 ± 0.8 mm vs. 3.2 ± 1.3 mm, p-value = 0.83). In our paediatric cohort of BAV patients, the prevalence and the degree of aortic diameter progression was not significantly different between physically active and sedentary subjects, suggesting that aortic dilation is unrelated to regular physical activity over a 2-year period.

Published
2021

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