Genetic Testing for Inherited Cardiovascular Diseases: A Scientific Statement From the American Heart Association

Circ Genom Precis Med. 2020 Aug;13(4):e000067. doi: 10.1161/HCG.0000000000000067. Epub 2020 Jul 23.


Advances in human genetics are improving the understanding of a variety of inherited cardiovascular diseases, including cardiomyopathies, arrhythmic disorders, vascular disorders, and lipid disorders such as familial hypercholesterolemia. However, not all cardiovascular practitioners are fully aware of the utility and potential pitfalls of incorporating genetic test results into the care of patients and their families. This statement summarizes current best practices with respect to genetic testing and its implications for the management of inherited cardiovascular diseases.

Keywords: AHA Scientific Statements; aneurysm; arrhythmia; cardiomyopathy; cardiovascular diseases; channelopathy; genetic testing; genetics.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • American Heart Association
  • Arrhythmias, Cardiac / congenital
  • Arrhythmias, Cardiac / diagnosis
  • Arrhythmias, Cardiac / genetics
  • Cardiomyopathies / congenital
  • Cardiomyopathies / diagnosis
  • Cardiomyopathies / genetics
  • Cardiovascular Diseases / congenital
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / genetics*
  • Genetic Testing / methods*
  • Humans
  • Hyperlipoproteinemia Type II / diagnosis
  • Hyperlipoproteinemia Type II / genetics
  • Risk Factors
  • United States
  • Vascular Diseases / congenital
  • Vascular Diseases / diagnosis
  • Vascular Diseases / genetics