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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 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

Elsevier

Author: Perez-Serra, Alexandra
Toro R
Sarquella-Brugada G
de Gonzalo-Calvo D
Cesar S
Carro E
Llorente-Cortes V
Iglesias A
Brugada J
Brugada, Ramon
Campuzano Larrea, Oscar
Date: 2016 December 1
Abstract: 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
Format: application/pdf
Document access: http://hdl.handle.net/10256/24314
Language: eng
Publisher: Elsevier
Collection: info:eu-repo/semantics/altIdentifier/doi/10.1016/j.ijcard.2016.09.068
info:eu-repo/semantics/altIdentifier/issn/0167-5273
info:eu-repo/semantics/altIdentifier/eissn/1874-1754
Rights: Tots els drets reservats
Subject: Cardiopatia congènita
Congenital heart disease
Mort sobtada
Sudden death
Genètica
Genetics
Miocardi--Malalties
Myocardium--Diseases
Title: Genetic basis of dilated cardiomyopathy
Type: info:eu-repo/semantics/article
Repository: DUGiDocs

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