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Your search keyword '"Silvia, Favilli"' showing total 4 results
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4 results on '"Silvia, Favilli"'

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

Author

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

Subjects
Infant‐onset, Hypertrophic, Cardiomyopathy, Prognosis, Diseases of the circulatory (Cardiovascular) system, RC666-701
Abstract

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

Published
2021
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2. A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

Author

Valentina Spinelli, Francesca Girolami, Chiara Marrone, Veronica Consigli, Maria Iascone, Silvia Passantino, Giulio Porcedda, Giovanni Battista Calabri, Luciano De Simone, Iacopo Olivotto, Giuseppe Santoro, and Silvia Favilli

Subjects
Alström syndrome, dilated cardiomyopathy, next generation sequencing, Medicine, Medicine (General), R5-920
Abstract

Abstract Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.

Published
2020
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3. Pathophysiology and clinical presentation of paediatric heart failure related to congenital heart disease

Author

Maria Giovanna Russo, Furio Colivicchi, Annamaria Iorio, Chiara Marrone, Elena Bennati, Silvia Favilli, Stefania Angela Di Fusco, Domenico Gabrielli, Giuseppe E. Santoro, Gaia Spaziani, Carmelo Massimiliano Rao, Michele Massimo Gulizia, and Fabiana Lucà

Subjects
Heart Defects, Congenital, Heart Failure, Pressure overload, medicine.medical_specialty, Heart disease, business.industry, Signs and symptoms, General Medicine, medicine.disease, Optimal management, Pathophysiology, 03 medical and health sciences, 0302 clinical medicine, 030225 pediatrics, Heart failure, Pediatrics, Perinatology and Child Health, medicine, Humans, 030212 general & internal medicine, Presentation (obstetrics), Cardiomyopathies, Child, Intensive care medicine, business, Paediatric patients
Abstract

Congenital heart disease (CHD) and cardiomyopathies represent the two most important causes of paediatric heart failure (HF) in developed countries. We made a review of the literature on pathophysiology and clinical presentation of paediatric HF in children with CHD. Two main pathophysiologic models can be identified: the 'over-circulation failure', characterised by signs and symptoms of congestion or hypoperfusion, due respectively to volume or pressure overload, and the 'pump failure'. CONCLUSIONS: The comprehension of the HF pathophysiology in paediatric patients with CHD is of paramount importance for the optimal management and for addressing the best therapeutic choices.

Published
2021
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4. A rare case of pediatric cardiomyopathy: Alström syndrome identified by gene panel analysis

Author

Silvia Favilli, Francesca Girolami, Giuseppe Santoro, Maria Iascone, Giulio Porcedda, Veronica Consigli, Silvia Passantino, Valentina Spinelli, Luciano De Simone, Chiara Marrone, Giovanni Battista Calabri, and Iacopo Olivotto

Subjects
Pediatrics, medicine.medical_specialty, Medicine (General), Pediatric cardiomyopathy, Genetic counseling, Cardiomyopathy, Case Report, Case Reports, 030204 cardiovascular system & hematology, 03 medical and health sciences, 0302 clinical medicine, R5-920, Gene panel, Rare case, medicine, next generation sequencing, business.industry, Dilated cardiomyopathy, General Medicine, medicine.disease, dilated cardiomyopathy, 030220 oncology & carcinogenesis, Alström syndrome, Etiology, Medicine, business
Abstract

Genetic investigation of early‐onset Dilatative cardiomyopathy phenotype, including molecular autopsy, is the key to appropriate recognition and management of rare etiologies and atypical presentations and to offer genetic counseling to the family.

Published
2020

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