Despite the heterogeneity of substrates and clinical expressivity, genetic testing has a direct impact on clinical practice: it allows a specific diagnosis, including silent carriers (ie, asymptomatic diagnosis) and, in select diseases, the identification of a mutation has major impact for risk stratification and treatment of patients. This article addresses the role of genetic testing for each of the most epidemiologically relevant inherited arrhythmogenic diseases, specifically long QT syndrome, Brugada syndrome, catecholaminergic polymorphic ventricular tachycardia, hypertrophic cardiomyopathy, and arrhythmogenic right ventricular cardiomyopathy.
- Multidisciplinary approach
ASJC Scopus subject areas
- Cardiology and Cardiovascular Medicine
- Physiology (medical)