Genetic Testing for Cardiomyopathies in Clinical Practice

Genetic Testing for Cardiomyopathies in Clinical Practice.

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Item Type: Article
Status: Published
Official URL:
Journal or Publication Title: Heart Failure Clinics
Volume: 14
Number: 2
Page Range: pp. 129-137
Date: 2018
Divisions: Bioinformatics and Molecular Genetics
Cardio Genomics
Molecular Cardiology
Depositing User: General Admin
Identification Number: 10.1016/j.hfc.2017.12.001
ISSN: 15517136
Date Deposited: 03 Jan 2021 23:02

Cardiac genetic testing for inherited cardiomyopathies has become a routine aspect of care. Advances in genetic testing technologies have made testing more comprehensive and affordable. With this increase come greater understanding of the genetic basis of these diseases, but also shines a light on the challenges. Ability to ascertain whether a rare variant is causative of disease is problematic. A genetic diagnosis in a family can offer an invaluable tool for cascade genetic testing of at-risk relatives and avenues for reproductive testing options. A careful approach to cardiac genetic testing that recognizes where there is potential for harm ensures the best possible outcomes for families.

Keywords: Arrhythmogenic right ventricular cardiomyopathy; Dilated cardiomyopathy; Genetic counseling; Genetic testing; Hypertrophic cardiomyopathy.

Copyright © 2017 Elsevier Inc. All rights reserved.

Ingles, Jodie
Bagnall, Richard D.
Semsarian, Christopher
Last Modified: 03 Jan 2021 23:02

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