Evolving molecular diagnostics for familial cardiomyopathies: at the heart of it all

Expert Rev Mol Diagn. 2010 Apr;10(3):329-51. doi: 10.1586/erm.10.13.


Cardiomyopathies are an important and heterogeneous group of common cardiac diseases. An increasing number of cardiomyopathies are now recognized to have familial forms, which result from single-gene mutations that render a Mendelian inheritance pattern, including hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy and left ventricular noncompaction cardiomyopathy. Recently, clinical genetic tests for familial cardiomyopathies have become available for clinicians evaluating and treating patients with these diseases, making it necessary to understand the current progress and challenges in cardiomyopathy genetics and diagnostics. In this review, we summarize the genetic basis of selected cardiomyopathies, describe the clinical utility of genetic testing for cardiomyopathies and outline the current challenges and emerging developments.

Publication types

  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Cardiomyopathies / classification
  • Cardiomyopathies / diagnosis*
  • Cardiomyopathies / genetics*
  • Cardiomyopathies / physiopathology
  • Echocardiography
  • Genetic Predisposition to Disease
  • Genetic Testing
  • Genotype
  • Humans
  • Mutation
  • Pathology, Molecular / methods*
  • Phenotype