Genetic Testing for Heritable Cardiovascular Diseases in Pediatric Patients: A Scientific Statement From the American Heart Association

Circ Genom Precis Med. 2021 Oct;14(5):e000086. doi: 10.1161/HCG.0000000000000086. Epub 2021 Aug 20.


Genetic diseases that affect the cardiovascular system are relatively common and include cardiac channelopathies, cardiomyopathies, aortopathies, hypercholesterolemias, and structural diseases of the heart and great vessels. The rapidly expanding availability of clinical genetic testing leverages decades of research into the genetic origins of these diseases, helping inform diagnosis, clinical management, and prognosis. Although a number of guidelines and statements detail best practices for cardiovascular genetic testing, there is a paucity of pediatric-focused statements addressing the unique challenges in testing in this vulnerable population. In this scientific statement, we seek to coalesce the existing literature around the use of genetic testing for cardiovascular disease in infants, children, and adolescents.

Keywords: AHA Scientific Statements; cardiomyopathies; channelopathies; connective tissue diseases; counseling, genetic; predictive genetic testing.

MeSH terms

  • Adolescent
  • American Heart Association
  • Cardiovascular Diseases / diagnosis
  • Cardiovascular Diseases / genetics*
  • Child
  • Child, Preschool
  • Female
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Testing*
  • Humans
  • Infant
  • Male
  • Practice Guidelines as Topic
  • United States