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1. ECG/echo indexes in the diagnostic approach to amyloid cardiomyopathy: A head-to-head comparison from the AC-TIVE study

Author

Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., Arzilli C., Pagura, L, Porcari, A, Cameli, M, Biagini, E, Canepa, M, Crotti, L, Imazio, M, Forleo, C, Pavasini, R, Limongelli, G, Perlini, S, Metra, M, Boriani, G, Emdin, M, Sinagra, G, Merlo, M, Longo, F, Rossi, M, Varrà, G, Saro, R, Dore, F, Girardi, F, Vergaro, G, Musumeci, B, Autore, C, Cappelli, F, Perfetto, F, Olivotto, I, Favale, S, Carella, M, Guaricci, A, Ciccone, M, Di Bella, G, Tomasoni, D, Rella, V, Branzi, G, Badano, L, Parati, G, Palmiero, G, Caiazza, M, Caponetti, A, Saturi, G, Labate, M, Andreis, A, Paneva, E, De Ferrari, G, Di Ienno, L, De Carli, G, Giacomin, E, Arzilli, C, Pagura L., Porcari A., Cameli M., Biagini E., Canepa M., Crotti L., Imazio M., Forleo C., Pavasini R., Limongelli G., Perlini S., Metra M., Boriani G., Emdin M., Sinagra G., Merlo M., Longo F., Rossi M., Varrà G. G., Saro R., Dore F., Girardi F., Vergaro G., Musumeci B., Autore C., Cappelli F., Perfetto F., Olivotto I., Favale S., Carella M. C., Guaricci A. I., Ciccone M. M., Di Bella G., Tomasoni D., Rella V., Branzi G., Badano L., Parati G., Palmiero G., Caiazza M., Caponetti A. G., Saturi G., Labate M. E., Andreis A., Paneva E., De Ferrari G. M., Di Ienno L., De Carli G., Giacomin E., and Arzilli C.

Abstract

Background and aims: The discordance between QRS voltages on electrocardiogram (ECG) and left ventricle (LV) wall thickness (LVWT) on echocardiogram (echo) is a recognized red flag (RF) of amyloid cardiomyopathy (AC) and can be measured by specific indexes. No head-to-head comparison of different ECG/echo indexes among subjects with echocardiographic suspicion of AC has yet been undertaken. The study aimed at evaluating the performance and the incremental diagnostic value of different ECG/echo indexes in this subset of patients. Methods: Electrocardiograms of subjects with LV hypertrophy, preserved ejection fraction and ≥ 1 echocardiographic RF of AC participating in the AC-TIVE study, an Italian prospective multicenter study, were independently analyzed by two cardiologists. Low QRS voltages and 8 different ECG/echo indexes were evaluated. Cohort specific cut-offs were computed. Results: Among 170 patients, 55 (32 %) were diagnosed with AC. Combination of low QRS voltages with interventricular septum ≥ 1,6 cm was the most specific (specificity 100 %, positive predictive value 100 %) ECG/echo index, while the ratio between the sum of all QRS voltages and LVWT <7,8 was the most sensitive and accurate (sensitivity 94 %, negative predictive value 97 %, accuracy 82 %). When the latter index was added to a model using easily-accessible clinical variables, the diagnostic accuracy for AC greatly increased (AUC from 0,84 to 0,95; p = 0,007). Conclusions: Among patients with non-dilated hypertrophic ventricles with normal ejection fraction and echocardiographic RF of AC, easily-measurable ECG/echo indexes, mainly when added to few clinical variables, can help the physician orient second level investigations. External validation of the results is warranted.

Published
2024

2. Cardiac Magnetic Resonance as Risk Stratification Tool in Non-Ischemic Dilated Cardiomyopathy Referred for Implantable Cardioverter Defibrillator Therapy—State of Art and Perspectives

Author

Argentiero, A, Carella, M, Mandunzio, D, Greco, G, Mushtaq, S, Baggiano, A, Fazzari, F, Fusini, L, Muscogiuri, G, Basile, P, Siena, P, Soldato, N, Napoli, G, Santobuono, V, Forleo, C, Garrido, E, Di Marco, A, Pontone, G, Guaricci, A, Argentiero A., Carella M. C., Mandunzio D., Greco G., Mushtaq S., Baggiano A., Fazzari F., Fusini L., Muscogiuri G., Basile P., Siena P., Soldato N., Napoli G., Santobuono V. E., Forleo C., Garrido E. C., Di Marco A., Pontone G., Guaricci A. I., Argentiero, A, Carella, M, Mandunzio, D, Greco, G, Mushtaq, S, Baggiano, A, Fazzari, F, Fusini, L, Muscogiuri, G, Basile, P, Siena, P, Soldato, N, Napoli, G, Santobuono, V, Forleo, C, Garrido, E, Di Marco, A, Pontone, G, Guaricci, A, Argentiero A., Carella M. C., Mandunzio D., Greco G., Mushtaq S., Baggiano A., Fazzari F., Fusini L., Muscogiuri G., Basile P., Siena P., Soldato N., Napoli G., Santobuono V. E., Forleo C., Garrido E. C., Di Marco A., Pontone G., and Guaricci A. I.

Abstract

Non-ischemic dilated cardiomyopathy (DCM) is a disease characterized by left ventricular dilation and systolic dysfunction. Patients with DCM are at higher risk for ventricular arrhythmias and sudden cardiac death (SCD). According to current international guidelines, left ventricular ejection fraction (LVEF) ≤ 35% represents the main indication for prophylactic implantable cardioverter defibrillator (ICD) implantation in patients with DCM. However, LVEF lacks sensitivity and specificity as a risk marker for SCD. It has been seen that the majority of patients with DCM do not actually benefit from the ICD implantation and, on the contrary, that many patients at risk of SCD are not identified as they have preserved or mildly depressed LVEF. Therefore, the use of LVEF as unique decision parameter does not maximize the benefit of ICD therapy. Multiple risk factors used in combination could likely predict SCD risk better than any single risk parameter. Several predictors have been proposed including genetic variants, electric indexes, and volumetric parameters of LV. Cardiac magnetic resonance (CMR) can improve risk stratification thanks to tissue characterization sequences such as LGE sequence, parametric mapping, and feature tracking. This review evaluates the role of CMR as a risk stratification tool in DCM patients referred for ICD.

Published
2023

3. Left Ventricular Global Longitudinal Strain (LV GLS) assessed by Echocardiography predicts myocardial fibrosis and iron overload in transfusion dependent beta-thalassemia patients

Author

Guaricci, A I, primary, Basile, P, additional, Monitillo, F, additional, Dadamo, M L, additional, Giordano, P, additional, Santoro, D, additional, Di Gennaro, D, additional, Mushtaq, S, additional, Baggiano, A, additional, Fazzari, F, additional, Fusini, L, additional, Forleo, C, additional, Vitucci, A, additional, Pontone, G, additional, and Ciccone, M M, additional

Published
2023
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4. Unmasking the prevalence of amyloid cardiomyopathy in the real world: results from Phase 2 of the AC-TIVE study, an Italian nationwide survey

Author

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, 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. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. 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., 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, 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. C., Igoren Guaricci A., Branzi G., Caponetti A. G., Saturi G., La Malfa G., Merlo A. C., Andreis A., Bruno F., Longo F., Rossi M., Varra G. 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., and Sinagra G.

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

6. Current patterns of beta-blocker prescription in cardiac amyloidosis: an Italian nationwide survey

Author

Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., Canepa M., Tini, G, Cappelli, F, Biagini, E, Musumeci, B, Merlo, M, Crotti, L, Cameli, M, Di Bella, G, Cipriani, A, Marzo, F, Guerra, F, Forleo, C, Gagliardi, C, Zampieri, M, Carigi, S, Vianello, P, Mandoli, G, Ciliberti, G, Lichelli, L, Mariani, D, Porcari, A, Russo, D, Licordari, R, Ponziani, A, Porto, I, Perfetto, F, Autore, C, Rapezzi, C, Sinagra, G, Canepa, M, Tini G., Cappelli F., Biagini E., Musumeci B., Merlo M., Crotti L., Cameli M., Di Bella G., Cipriani A., Marzo F., Guerra F., Forleo C., Gagliardi C., Zampieri M., Carigi S., Vianello P. F., Mandoli G. E., Ciliberti G., Lichelli L., Mariani D., Porcari A., Russo D., Licordari R., Ponziani A., Porto I., Perfetto F., Autore C., Rapezzi C., Sinagra G., and Canepa M.

Abstract

Aims: The use of beta-blocker therapy in cardiac amyloidosis (CA) is debated. We aimed at describing patterns of beta-blocker prescription through a nationwide survey. Methods and results: From 11 referral centres, we retrospectively collected data of CA patients with a first evaluation after 2016 (n = 642). Clinical characteristics at first and last evaluation were collected, with a focus on medical therapy. For patients in whom beta-blocker therapy was started, stopped, or continued between first and last evaluation, the main reason for beta-blocker management was requested. Median age of study population was 77 years; 81% were men. Arterial hypertension was found in 58% of patients, atrial fibrillation (AF) in 57%, and coronary artery disease in 16%. Left ventricular ejection fraction was preserved in 62% of cases, and 74% of patients had advanced diastolic dysfunction. Out of the 250 CA patients on beta-blockers at last evaluation, 215 (33%) were already taking this therapy at first evaluation, while 35 (5%) were started it, in both cases primarily because of high-rate AF. One-hundred-nineteen patients (19%) who were on beta-blocker at first evaluation had this therapy withdrawn, mainly because of intolerance in the presence of heart failure with advanced diastolic dysfunction. The remaining 273 patients (43%) had never received beta-blocker therapy. Beta-blockers usage was similar between CA aetiologies. Patients taking vs. not taking beta-blockers differed only for a greater prevalence of arterial hypertension, coronary artery disease, AF, and non-restrictive filling pattern (P < 0.01 for all) in the former group. Conclusions: Beta-blockers prescription is not infrequent in CA. Such therapy may be tolerated in the presence of co-morbidities for which beta-blockers are routinely used and in the absence of advanced diastolic dysfunction.

Published
2021

7. 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

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, Sinagra, G, 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, Sinagra, G, 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, and Sinagra, Gianfranco

Published
2022

9. C64 UNMASKING THE PREVALENCE OF AMYLOID CARDIOMYOPATHY IN THE REAL WORLD: RESULTS FROM PHASE 2 OF AC–TIVE STUDY, AN ITALIAN NATIONWIDE SURVEY

Author

Merlo, M, primary, Pagura, L, additional, Porcari, A, additional, Cameli, M, additional, Vergaro, G, additional, Musumeci, B, additional, Biagini, E, additional, Canepa, M, additional, Crotti, L, additional, Imazio, M, additional, Forleo, C, additional, Cappelli, F, additional, Favale, S, additional, Di Bella, G, additional, Dore, F, additional, Girardi, F, additional, Tomasoni, D, additional, Pavasini, R, additional, Rella, V, additional, Palmiero, G, additional, Caiazza, M, additional, Albanese, M, additional, Igoren Guarrucci, A, additional, Branzi, G, additional, Caponetti, A, additional, Saturi, G, additional, La Malfa, G, additional, Merlo, A, additional, Andreis, A, additional, Bruno, F, additional, Longo, F, additional, Rossi, M, additional, Varra‘, G, additional, Saro, R, additional, Di Ienno, L, additional, De Carli, G, additional, Giacomin, E, additional, Spini, V, additional, Limongelli, G, additional, Autore, C, additional, Olivotto, I, additional, Badano, L, additional, Parati, G, additional, Perlini, S, additional, Metra, M, additional, Emdin, M, additional, Rapezzi, C, additional, and Sinagra, G, additional

Published
2022
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14. Targeted next-generation sequencing helps to decipher the genetic and phenotypic heterogeneity of hypertrophic cardiomyopathy

Author

Cecconi, M., Parodi, M. I., Formisano, F., Spirito, P., Autore, C., Musumeci, M. B., Favale, S., Forleo, C., Rapezzi, C., Biagini, E., Davì, S., Canepa, E., Pennese, L., Castagnetta, M., Degiorgio, Dario, Coviello, Domenico, Collaborative Working Group, Cecconi, Massimiliano, Parodi, Maria I., Formisano, Francesco, Spirito, Paolo, Autore, Camillo, Musumeci, Maria B., Favale, Stefano, Forleo, Cinzia, Rapezzi, Claudio, Biagini, Elena, Davì, Sabrina, Canepa, Elisabetta, Pennese, Loredana, Castagnetta, Mauro, Degiorgio, Dario, and Coviello, Domenico A.

Subjects
0301 basic medicine, Arrhythmias, 030204 cardiovascular system & hematology, medicine.disease_cause, Non-sarcomeric genes, Genetic heterogeneity, 0302 clinical medicine, Myofibrils, Borderline HCM, Hypertrophic cardiomyopathy, Ion Torrent Personal Genome Machine, Next-generation sequencing, Phenotypic heterogeneity, Thick/intermediate and thin myofilament proteins, Adolescent, Adult, Aged, Arrhythmias, Cardiac, Cardiomyopathy, Hypertrophic, Child, Child, Preschool, Exons, High-Throughput Nucleotide Sequencing, Humans, Middle Aged, Mutation, Phenotype, Syndrome, Young Adult, Genetics, Non-sarcomeric gene, Sanger sequencing, Thick/intermediate and thin myofilament protein, Articles, General Medicine, Myosin binding, symbols, Cardiac, Cardiomyopathy, Biology, DNA sequencing, NO, 03 medical and health sciences, symbols.namesake, medicine, cardiovascular diseases, Preschool, Gene, Phenocopy, Ion Torrent Personal Genome Machine, borderline HCM, hypertrophic cardiomyopathy, next-generation sequencing, thick/intermediate and thin myofilament proteins, non-sarcomeric genes, genetic heterogeneity, phenotypic heterogeneity, 030104 developmental biology, Hypertrophic, MYH7
Abstract

Hypertrophic cardiomyopathy (HCM) is mainly associated with myosin, heavy chain 7 (MYH7) and myosin binding protein C, cardiac (MYBPC3) mutations. In order to better explain the clinical and genetic heterogeneity in HCM patients, in this study, we implemented a target-next generation sequencing (NGS) assay. An Ion AmpliSeq™ Custom Panel for the enrichment of 19 genes, of which 9 of these did not encode thick/intermediate and thin myofilament (TTm) proteins and, among them, 3 responsible of HCM phenocopy, was created. Ninety-two DNA samples were analyzed by the Ion Personal Genome Machine: 73 DNA samples (training set), previously genotyped in some of the genes by Sanger sequencing, were used to optimize the NGS strategy, whereas 19 DNA samples (discovery set) allowed the evaluation of NGS performance. In the training set, we identified 72 out of 73 expected mutations and 15 additional mutations: the molecular diagnosis was achieved in one patient with a previously wild-type status and the pre-excitation syndrome was explained in another. In the discovery set, we identified 20 mutations, 5 of which were in genes encoding non-TTm proteins, increasing the diagnostic yield by approximately 20%: a single mutation in genes encoding non-TTm proteins was identified in 2 out of 3 borderline HCM patients, whereas co-occuring mutations in genes encoding TTm and galactosidase alpha (GLA) altered proteins were characterized in a male with HCM and multiorgan dysfunction. Our combined targeted NGS-Sanger sequencing-based strategy allowed the molecular diagnosis of HCM with greater efficiency than using the conventional (Sanger) sequencing alone. Mutant alleles encoding non-TTm proteins may aid in the complete understanding of the genetic and phenotypic heterogeneity of HCM: co-occuring mutations of genes encoding TTm and non-TTm proteins could explain the wide variability of the HCM phenotype, whereas mutations in genes encoding only the non-TTm proteins are identifiable in patients with a milder HCM status.

Published
2016

20. Influence of hydrophilic and lipophilic beta-blockers on heart rate, ventricular repolarization and their interrelationship in normal subjects

Author

Iacoviello, M., Massari, F., Laura, D., Guida, P., FILIPPO MASTROPASQUA, Forleo, C., Rizzon, P., and Pitzalis, M. V.

Subjects
Adult, Male, Cross-Over Studies, Heart Ventricles, Adrenergic beta-Antagonists, Reproducibility of Results, Electrocardiography, Nadolol, Heart Rate, Humans, Ventricular Function, Female, Single-Blind Method, Metoprolol
Abstract

It has been hypothesized that hydrophilic and lipophilic beta-blockers have different antiarrhythmic properties because only the latter seem to reduce the rate of sudden death in post-myocardial infarction patients as well as animal models which seem to be independent of their effect on autonomic nervous system modulation. The aim of this study was to evaluate the different effects of a hydrophilic (nadolol) and lipophilic (metoprolol) beta-blocker on ventricular repolarization in normal subjects.Seventeen normal subjects entered this randomized, single-blind cross-over study designed to compare the effects of nadolol (80 mg/day) and slow-release metoprolol (200 mg/day) on dynamic ventricular repolarization. The RR intervals, the QT evaluated at the apex (QT apex) and at the end (QT end) of the T wave before and after correction for heart rate, the standard deviation of QT apex and QT end, and the slope of the QT/RR linear relationship (QTa-slope and QTe-slope) were studied using the ELATEC system (ELA Medical, Mountrouge, France), and an evaluation was made of their reproducibility and the effects of each beta-blocker.The most reproducible parameters were QT apex, corrected QT apex and the QTe-slope. Nadolol was associated with a greater adrenergic blockade than metoprolol (lengthening of RR interval +25 +/- 7 and +17 +/- 8% respectively, p = 0.0003) and a lower effect on ventricular repolarization (reduction of corrected QT apex -0.6 +/- 3 and -2.5 +/- 2.1% respectively, p0.01; reduction of QTe-slope -5 +/- 16 and -15 +/- 15% respectively, p = 0.03).At the dosages used in the study, metoprolol showed lower adrenergic blockade but greater effect on ventricular repolarization than nadolol.

Published
2000

22. Altered two-dimensional strain measures of the right ventricle in patients with Brugada syndrome and arrhythmogenic right ventricular dysplasia/cardiomyopathy

Author

Iacoviello, M., primary, Forleo, C., additional, Puzzovivo, A., additional, Nalin, I., additional, Guida, P., additional, Anaclerio, M., additional, Marangelli, V., additional, Sorrentino, S., additional, Monitillo, F., additional, Ciccone, M. M., additional, and Favale, S., additional

Published
2011
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25. Poster Session 4: Miscellaneous

Author

Brady, P. A., primary, Erne, P., additional, Val-Mejias, J., additional, Schwab, J., additional, Schimpf, R., additional, Orlov, M., additional, Mattioni, T., additional, Amlie, J., additional, Itou, H., additional, Igarashi, M., additional, Iga, A., additional, Tubota, T., additional, Yamazaki, J., additional, Yoshihara, K., additional, Santos De Sousa, C. I., additional, Carpinteiro, L., additional, Marques, P., additional, Almeida, M. R., additional, Miltemberger, G., additional, Correia, M. J., additional, Sousa, J., additional, Lopes, M., additional, Teixeira, R., additional, Ferreira, M. J., additional, Donato, P., additional, Ventura, M., additional, Cristovao, J., additional, Elvas, L., additional, Providencia, L. A., additional, Chang, D., additional, Zhang, S., additional, Gao, L., additional, Yang, D., additional, Lin, Y., additional, Chu, Z., additional, Yang, Y., additional, Pecini, R., additional, Pehrson, S., additional, Chen, X., additional, Thoegersen, A. M., additional, Kjaer, A., additional, Hastrup-Svendsen, J., additional, Sanchez-Munoz, J. J., additional, Garcia-Alberola, A., additional, Martinez-Sanchez, J., additional, Penafiel-Verdu, P., additional, Giner-Caro, J. A., additional, Pastor-Perez, F. J., additional, Valdes-Chavarri, M., additional, Sorrentino, S., additional, Forleo, C., additional, Iacoviello, M., additional, Guida, P., additional, D'andria, V., additional, Favale, S., additional, Pasceri, E., additional, Curcio, A., additional, Achille, F., additional, De Serio, D., additional, Zinzi, S., additional, Torella, D., additional, Mastroroberto, P., additional, Indolfi, C., additional, Ozcan Celebi, O., additional, Canbay, A., additional, Aydogdu, S., additional, Diker, E., additional, De Sisti, A., additional, Tonet, J., additional, Benkaci, A., additional, Frank, R., additional, Penafiel Verdu, P., additional, Giner Caro, J. A., additional, Maroz-Vadalazhskaya, N., additional, Denissevich, T., additional, Ostrovskiy, I., additional, Sharashidze, N., additional, Pagava, Z., additional, Saatashvili, G., additional, Agladze, R., additional, Noda, M., additional, Yoshikawa, S., additional, Fujinami, T., additional, Yamamoto, Y., additional, Tashiro, H., additional, Usui, M., additional, Ichikawa, K., additional, Isobe, M., additional, Meyer, C., additional, Saygili, E., additional, Rana, O., additional, Floege, J., additional, Hennersdorf, M., additional, Rassaf, T., additional, Kelm, M., additional, Schauerte, P., additional, Sredniawa, B., additional, Cebula, S., additional, Kowalczyk, J., additional, Musialik-Lydka, A., additional, Wozniak, A., additional, Zakliczynski, M., additional, Zembala, M., additional, Kalarus, Z., additional, Gumenyuk, O. I., additional, Chernenkov, Y. V., additional, Kosenkova, I. V., additional, Bolotova, N. V., additional, and Averyanov, A. P., additional

Published
2009
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48. Diastolic dysfunction and baroreflex sensitivity in hypertension.

Author

Pitzalis, Maria Vittoria, Passantino, Andrea, Massari, Francesco, Forleo, Cinzia, Balducci, Cataldo, Santoro, Giuseppe, Mastropasqua, Filippo, Antonelli, Gianfranco, Rizzon, Paolo, Pitzalis, M V, Passantino, A, Massari, F, Forleo, C, Balducci, C, Santoro, G, Mastropasqua, F, Antonelli, G, and Rizzon, P

Published
1999

49. Effects of hydrophilic and lipophilic beta-blockers on heart rate variability and baroreflex sensitivity in normal subjects.

Author

Pitzalis MV, Mastropasqua F, Massari F, Forleo C, Passantino A, Colombo R, Totaro P, and Rizzon P

Abstract

To evaluate the effect of a hydrophilic and a lipophilic beta-blocker on the autonomic nervous system, 20 normal subjects were studied under baseline conditions and 7 days after being randomly assigned to metoprolol (200 mg/day), nadolol (80 mg/day), and placebo. Under each condition, the time-domain parameters were analyzed by means of 24-hour ECG monitoring and the frequency-domain parameters by means of the autoregressive method using 10-minute ECGs during rest, controlled respiration, and after a head-up tilt test. The alpha index (the gain in the relationship between the RR period and systolic arterial pressure variability) was also calculated. Both nadolol and metoprolol significantly increased all of the time-domain parameters except the standard deviation of the RH intervals; they also modified the frequency-domain parameters. Both blunted the significant reduction in the high frequency (HF) component and alpha index during tilt. In normal subjects, hydrophilic and lipophilic beta-blockers similarly modify the time- and frequency-domain parameters that are particularly evident when high sympathetic tone is present (during daytime and tilt). The value of the alpha index was increased by both beta-blockers in the HF, but not in the low frequency band; this difference might be due to the fact that the former is a measure of the vagal component of the baroreflex control and the latter a measure of the sympathetic component. The effects of hydrophilic and lipophilic beta-blockers on the time- and frequency-domain parameters of heart rate variability are similar. [ABSTRACT FROM AUTHOR]

Published
1998
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50. Dependency of premature ventricular contractions on heart rate

Author

Bari, University of, Cardiology, Division of, Foundation, S. Maugeri, IRCCS, From the Institute of Cardiology, Cassano Murge., Pitzalis, M.V., Mastropasqua, F., Massari, F., Passantino, A., Forleo, C., Luzzi, G., Totaro, P., De Nicolo, M., and Rizzon, P.

Abstract

To identify a method for characterizing the dynamic behavior of ventricular arrhythmias at different heart rates, 201 consecutive patients with frequent premature ventricular contractions (PVCs) underwent two 24-hour electrocardiographic monitoring periods. The percentage of PVCs for each cycle length was calculated and then analyzed by linear regression analysis. On the basis of the significance of the p value, and the positive or negative value of the slope, we identified three trends: a tachycardia-enhanced pattern ( p < 0.01, slope negative), a bradycardia-enhanced pattern ( p < 0.01, slope positive), and an indifferent pattern ( p > 0.01). During the first monitoring period, a tachycardia-enhanced pattern was present in 56 patients (28%), a bradycardia-enhanced pattern was present in 49 patients (24%), and an indifferent pattern was present in 96 patients (48%). This relationship was reproducible in 41 of the patients with a tachycardia-enhanced pattern (73%), in 29 of the patients with a bradycardia-enhanced pattern (59%), and in 70 patients with an indifferent pattern (72%). In conclusion, it is possible to identify a spontaneous trend between the incidence of ventricular arrhythmias and the length of the preceding cardiac cycle that seems to remain stable over time. (Am Heart J 1997;133:153-61.)

Published
1997
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