Peer Reviewed
Feature Article Cardiovascular medicine

Genetic testing for inherited heart diseases

Christopher Semsarian, Jodie Ingles
Abstract
A genetic diagnosis for an inherited heart disease enables cascade screening of at-risk family members. A positive gene result identifies asymptomatic gene carriers at the earliest preclinical stages of disease development, and a negative gene result provides reassurance and eliminates years of unnecessary clinical surveillance. Commercial genetic tests are available for most inherited heart diseases.
Key Points
  • Most inherited heart diseases have an autosomal dominant inheritance.
  • Inherited heart diseases are clinically and genetically diverse.
  • The key role of genetic testing for inherited heart diseases is cascade screening of at-risk family members.
  • Pre- and post-test genetic counselling is required in all cases.
  • The optimal model of care is a specialised multidisciplinary clinic approach.

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