Genetic Testing in Inherited Heart Diseases

Heart Lung Circ. 2020 Apr;29(4):505-511. doi: 10.1016/j.hlc.2019.10.014. Epub 2019 Nov 29.


Inherited heart diseases include numerous conditions, from the more prevalent hypertrophic cardiomyopathy (HCM) and familial hypercholesterolaemia (FH), to the comparatively less common inherited arrhythmia syndromes, such as long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT) and Brugada syndrome (BrS). Genetic testing has evolved rapidly over the last decade and is now considered a mainstream component of clinical management of inherited heart diseases. Cardiac manifestations can also be part of wider syndromes, and genetic testing can play a critical role in clarifying the underlying aetiological basis of disease in some cases. The greatest utility of a genetic diagnosis, however, comes from the ability to elucidate disease risk amongst asymptomatic at-risk family members. Given the nuances and challenges, cardiac genetic testing is best performed in a multidisciplinary specialised clinic with access to cardiac genetic counselling.

Keywords: Genetic counselling; Genetic testing; Inherited heart diseases.

Publication types

  • Review

MeSH terms

  • Genetic Counseling*
  • Genetic Diseases, Inborn / diagnosis
  • Genetic Diseases, Inborn / genetics*
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Heart Diseases / diagnosis
  • Heart Diseases / genetics*
  • Humans