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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

Autor: 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
Data: 1 desembre 2016
Resum: 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
Accés al document: http://hdl.handle.net/10256/24314
Llenguatge: eng
Editor: Elsevier
Col·lecció: 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
Drets: Tots els drets reservats
Matèria: Cardiopatia congènita
Congenital heart disease
Mort sobtada
Sudden death
Genètica
Genetics
Miocardi--Malalties
Myocardium--Diseases
Títol: Genetic basis of dilated cardiomyopathy
Tipus: info:eu-repo/semantics/article
Repositori: DUGiDocs

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