Predictive genetic testing for cardiomyopathies☆

Abstract 

Genetic testing is now available on a clinical basis for several of the genes responsible for cardiomyopathies. The identification of the genetic basis for cardiomyopathies can be useful in identifying family members at risk, stratifying risk of arrhythmias and sudden cardiac death, and clarifying prognosis. There are however many limitations and continuing challenges of genetic testing for cardiomyopathies. Some of these challenges are even more difficult in children including age dependent penetrance, management of asymptomatic children, and psychological effects of testing asymptomatic minors. However, if clinical trials are able to demonstrate efficacy in primary prevention of cardiomyopathies, predictive genetic testing in asymptomatic individuals will be essential not only for early detection but for disease prevention.

Keywords: Genetic testing, Hypertrophic cardiomyopathy, Sacomere, Risk stratification