Genetic evaluation of familial cardiomyopathy

J Cardiovasc Transl Res. 2008 Jun;1(2):144-54. doi: 10.1007/s12265-008-9025-1. Epub 2008 Apr 22.


Hereditary forms of hypertrophic, dilated, restrictive, and right ventricular cardiomyopathies are frequently seen. Patterns of inheritance include autosomal dominant, autosomal recessive, X-linked, and matrilinear. Recognition of the mode of inheritance facilitates proper clinical screening of family members in subsequent generations. Report of successful sequence analysis of the human genome 7 years ago has resulted in widespread translation of genomic information into clinical applications. As technologic advances in high throughput sequence determination continue to evolve, an era of personalized medicine based on genomic data is highly anticipated. Today, clinical genetic testing is available for most monogenic forms of cardiomyopathy and the demand among patients and families is increasing. However, physicians and patients should consider the benefits and limitations of such testing. This review will focus on inherited forms of cardiomyopathy, detailing the currently available genetic tests, as well as benefits, limitations, and possible outcomes of such testing.

Publication types

  • Research Support, Non-U.S. Gov't
  • Review

MeSH terms

  • Arrhythmogenic Right Ventricular Dysplasia / diagnosis
  • Arrhythmogenic Right Ventricular Dysplasia / genetics
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics*
  • Cardiomyopathy, Dilated / diagnosis
  • Cardiomyopathy, Dilated / genetics
  • Cardiomyopathy, Hypertrophic, Familial / diagnosis
  • Cardiomyopathy, Hypertrophic, Familial / genetics
  • Cardiomyopathy, Restrictive / diagnosis
  • Cardiomyopathy, Restrictive / genetics
  • Genetic Counseling
  • Genetic Predisposition to Disease
  • Genetic Testing*
  • Heredity
  • Humans
  • Inheritance Patterns
  • Pedigree
  • Phenotype
  • Predictive Value of Tests