Genetic Testing for Cardiomyopathies in Clinical Practice

Abstract

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.