Hypertrophic Cardiomyopathy in Children: Pathophysiology, Diagnosis, and Treatment of Non-sarcomeric Causes.
Emanuele Monda,Marta Rubino,Michele Lioncino,Francesco Di Fraia,Roberta Pacileo,Federica Verrillo,Annapaola Cirillo,Martina Caiazza,Adelaide Fusco,Augusto Esposito,Fabio Fimiani,Giuseppe Palmiero,Giuseppe Pacileo,Paolo Calabrò,Maria Giovanna Russo,Giuseppe Limongelli,Giuseppe Limongelli +16 more
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TLDR
In this paper, a review of non-sarcomeric causes of hypertrophic cardiomyopathy in children is presented, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.Abstract:
Hypertrophic cardiomyopathy (HCM) is a myocardial disease characterized by left ventricular hypertrophy not solely explained by abnormal loading conditions. Despite its rare prevalence in pediatric age, HCM carries a relevant risk of mortality and morbidity in both infants and children. Pediatric HCM is a large heterogeneous group of disorders. Other than mutations in sarcomeric genes, which represent the most important cause of HCM in adults, childhood HCM includes a high prevalence of non-sarcomeric causes, including inherited errors of metabolism (i.e., glycogen storage diseases, lysosomal storage diseases, and fatty acid oxidation disorders), malformation syndromes, neuromuscular diseases, and mitochondrial disease, which globally represent up to 35% of children with HCM. The age of presentation and the underlying etiology significantly impact the prognosis of children with HCM. Moreover, in recent years, different targeted approaches for non-sarcomeric etiologies of HCM have emerged. Therefore, the etiological diagnosis is a fundamental step in designing specific management and therapy in these subjects. The present review aims to provide an overview of the non-sarcomeric causes of HCM in children, focusing on the pathophysiology, clinical features, diagnosis, and treatment of these rare disorders.read more
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Multimodality Imaging in Cardiomyopathies with Hypertrophic Phenotypes
Emanuele Monda,Giuseppe Palmiero,Michele Lioncino,Marta Rubino,Annapaola Cirillo,Adelaide Fusco,Martina Caiazza,Federica Verrillo,Gaetano Diana,Alfredo Mauriello,Michele Iavarone,Maria Angela Losi,Maria Luisa De Rimini,Santo Dellegrottaglie,Antonello D'Andrea,Eduardo Bossone,Giuseppe Pacileo,Giuseppe Limongelli +17 more
TL;DR: This review aims to elucidate the current role of multimodality imaging in adult patients with HCM and provide essential information for diagnosis, sudden cardiac death stratification, and management.
Journal ArticleDOI
Hypertrophic Cardiomyopathy in RASopathies
TL;DR: In this paper , the authors assess the prevalence and unique features of hypertrophic cardiomyopathy in RASopathies (R-HCM) and define the available therapeutic options.
Journal ArticleDOI
Hypertrophic Cardiomyopathy in RASopathies: Diagnosis, Clinical Characteristics, Prognostic Implications, and Management.
Michele Lioncino,Emanuele Monda,Federica Verrillo,Elisabetta Moscarella,Giulio Calcagni,Fabrizio Drago,Bruno Marino,Maria Cristina Digilio,Carolina Putotto,Paolo Calabrò,Maria Giovanna Russo,Amy E. Roberts,Bruce D. Gelb,Marco Tartaglia,Giuseppe Limongelli +14 more
TL;DR: In this paper, the authors assess the prevalence and unique features of hypertrophic cardiomyopathy in RASopathies (R-HCM) and define the available therapeutic options.
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Diagnosis and Management of Cardiovascular Involvement in Fabry Disease
TL;DR: In this paper , the authors describe the current state of knowledge regarding cardiovascular involvement in Fabry disease, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy, including targeted therapy.
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Diagnosis and Management of Cardiovascular Involvement in Fabry Disease.
Marta Rubino,Emanuele Monda,Michele Lioncino,Martina Caiazza,Giuseppe Palmiero,Francesca Dongiglio,Adelaide Fusco,Annapaola Cirillo,Arturo Cesaro,Laura Capodicasa,Marialuisa Mazzella,Flavia Chiosi,Paolo Orabona,Eduardo Bossone,Paolo Calabrò,Antonio Pisani,Dominique P. Germain,Elena Biagini,Maurizio Pieroni,Giuseppe Limongelli +19 more
TL;DR: In this paper, the authors describe the current state of knowledge regarding cardiovascular involvement in Fabry disease, focusing on clinical and instrumental features, cardiovascular management, and targeted therapy, including targeted therapy.
References
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Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome.
Marco Tartaglia,Marco Tartaglia,Ernest L. Mehler,Rosalie Goldberg,Giuseppe Zampino,Han G. Brunner,Hannie Kremer,Ineke van der Burgt,Andrew H. Crosby,Andra Ion,Steve Jeffery,Kamini Kalidas,Michael A. Patton,Raju Kucherlapati,Bruce D. Gelb +14 more
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The AMP-activated protein kinase cascade-a unifying system for energy control
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