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Genetic basis of dilated cardiomyopathy

2016, Int J Cardiol. 2016 Dec 1;224:461-472
Pérez-Serra A, Toro R, Sarquella-Brugada G, de Gonzalo-Calvo D, Cesar S, Carro E, Llorente-Cortes V, Iglesias A, Brugada J, Brugada R, Campuzano O
Autors del centre relacionats: Llorente-Cortés Vicenta.
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.
Copyright © 2016 Elsevier Ireland Ltd. All rights reserved.

Dilated cardiomyopathy; Genetics; Sudden cardiac death
PMID: 27736720 DOI: 10.1016/j.ijcard.2016.09.068

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