Genetic basis of dilated cardiomyopathy

Int J Cardiol. 2016 Dec 1:224:461-472. doi: 10.1016/j.ijcard.2016.09.068. Epub 2016 Sep 21.

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.

Keywords: Dilated cardiomyopathy; Genetics; Sudden cardiac death.

Publication types

  • Review

MeSH terms

  • Cardiomyopathy, Dilated / genetics*
  • Chromosome Aberrations*
  • Connectin / genetics
  • Death, Sudden, Cardiac / prevention & control*
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Humans
  • Lamin Type A / genetics
  • Point Mutation

Substances

  • Connectin
  • LMNA protein, human
  • Lamin Type A
  • TTN protein, human

Supplementary concepts

  • Familial dilated cardiomyopathy