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Genetic Testing in Inherited Heart Diseases

Jodie Ingles1, Ivan Macciocca2, Ana Morales3

  • 1Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, NSW, Australia; Faculty of Medicine and Health, The University of Sydney, Sydney, NSW, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, NSW, Australia.

Heart, Lung & Circulation
|December 10, 2019
PubMed

Insights

Genetic testing is crucial for diagnosing inherited heart conditions like hypertrophic cardiomyopathy and long QT syndrome. It helps identify at-risk family members, guiding personalized cardiovascular care.

Area of Science:

  • Cardiology
  • Genetics
  • Clinical Medicine

Background:

  • Inherited heart diseases encompass a spectrum of conditions, including hypertrophic cardiomyopathy (HCM), familial hypercholesterolaemia (FH), and inherited arrhythmia syndromes like long QT syndrome (LQTS), catecholaminergic polymorphic ventricular tachycardia (CPVT), and Brugada syndrome (BrS).
  • Genetic testing has become a cornerstone in the clinical management of these cardiovascular disorders.
  • Cardiac manifestations can be indicative of broader genetic syndromes, where genetic testing aids in etiological clarification.

Purpose of the Study:

  • To highlight the evolving role and utility of genetic testing in the diagnosis and management of inherited heart diseases.
  • To emphasize the importance of genetic testing in identifying at-risk asymptomatic family members.
  • To underscore the need for specialized multidisciplinary clinics and genetic counseling for cardiac genetic testing.

Main Methods:

  • Review of current advancements in genetic testing technologies for cardiovascular diseases.
  • Analysis of the clinical utility of genetic diagnoses in inherited heart conditions.
  • Discussion of the integration of genetic testing into specialized cardiac clinics.

Main Results:

  • Genetic testing is now a mainstream component in managing inherited heart diseases.
  • Genetic diagnoses are particularly valuable for assessing risk in asymptomatic relatives.
  • Clarification of underlying causes for cardiac manifestations within wider syndromes is facilitated by genetic testing.

Conclusions:

  • Genetic testing plays a pivotal role in the diagnosis and risk stratification of inherited heart diseases.
  • Specialized multidisciplinary cardiac clinics with genetic counseling are essential for optimal patient care.
  • Early genetic diagnosis enables proactive management and familial screening for cardiovascular genetic disorders.

Keywords:
Genetic counsellingGenetic testingInherited heart diseases

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