Genetic basis of dilated cardiomyopathy

Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation and systolic dysfunction leading to heart failure and sudden cardiac death. Currently, despite several conditions have been reported as aetiologies of the disease, a large number of cases remain classified...

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Detalles Bibliográficos
Autores: Perez-Serra, Alexandra, Toro, Rocío, Sarquella Brugada, Geòrgia, Gonzalo-Calvo, David de, Cesar, Sergi, Carro, Esther, Llorente-Cortes, Vicenta, Iglesias, Anna, Brugada Terradellas, Josep, Brugada, Ramon, Campuzano Larrea, Oscar
Tipo de recurso: artículo
Estado:Versión aceptada para publicación
Fecha de publicación:2016
País:España
Institución:Varias* (Consorci de Biblioteques Universitáries de Catalunya, Centre de Serveis Científics i Acadèmics de Catalunya)
Repositorio:Recercat. Dipósit de la Recerca de Catalunya
OAI Identifier:oai:recercat.cat:10256/24314
Acceso en línea:http://hdl.handle.net/10256/24314
Access Level:acceso abierto
Palabra clave:Cardiopatia congènita
Congenital heart disease
Mort sobtada
Sudden death
Genètica
Genetics
Miocardi -- Malalties
Myocardium -- Diseases
Descripción
Sumario:Dilated cardiomyopathy is a rare cardiac disease characterized by left ventricular dilatation and systolic dysfunction leading to heart failure and sudden cardiac death. Currently, despite several conditions have been reported as aetiologies of the disease, a large number of cases remain classified as idiopathic. Recent studies determine that nearly 60% of cases are inherited, therefore due to a genetic cause. Progressive technological advances in genetic analysis have identified over 60 genes associated with this entity, being TTN the main gene, so far. All these genes encode a wide variety of myocyte proteins, mainly sarcomeric and desmosomal, but physiopathologic pathways are not yet completely unraveled. We review the recent published data about genetics of familial dilated cardiomyopathy