Genetic evaluation of dilated cardiomyopathy

Curr Cardiol Rep. 2013 Jul;15(7):375. doi: 10.1007/s11886-013-0375-1.

Abstract

Recent advances have expanded our ability to conduct a comprehensive genetic evaluation for dilated cardiomyopathy (DCM). By evaluating recent literature, this review aims to bring the reader up-to-date on the genetic evaluation of DCM. Updated guidelines have been published. Mutations in BAG3, including a large deletion, were identified in 2 % of DCM. Truncating mutations in TTN were reported in 25 % of DCM. Two new genes have been reported with autosomal recessive DCM. These studies illustrate the role of improved technologies while raising the possibility of a complex genetic model for DCM. The inclusion of TTN has led to an increased genetic testing detection rate of 40 %. While our ability to identify disease-causing variants has increased, so has the identification of variants of unknown significance. A genetic evaluation for DCM must therefore address this complexity.

Publication types

  • Review

MeSH terms

  • Adaptor Proteins, Signal Transducing / genetics
  • Apoptosis Regulatory Proteins
  • Cardiomyopathy, Dilated / genetics*
  • Connectin
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing / methods
  • Humans
  • Muscle Proteins / genetics
  • Mutation
  • Protein Kinases / genetics

Substances

  • Adaptor Proteins, Signal Transducing
  • Apoptosis Regulatory Proteins
  • BAG3 protein, human
  • Connectin
  • Muscle Proteins
  • TTN protein, human
  • Protein Kinases