GENETICS OF CARDIOMYOPATHY

Abstract

Heart failure is a leading cause of morbidity and mortality. Around 4% of patients with heart failure carry a pathogenic genetic aberration that causes cardiomyopathy and subsequently leads to heart failure. There are five types of primary genetic cardiomyopathies that can give rise to heart failure: hypertrophic cardiomyopathy (HCM), dilated cardiomyopathy, arrhythmogenic cardiomyopathy (ACM), restrictive cardiomyopathy (RCM), and left ventricular noncompaction (LVNC). If genetic cardiomyopathy is suspected, genomic/genetic testing is recommended because it provides the underlying cause for the diagnosis, prognostic parameters, and possibility to test family members at risk. Testing should be conducted as part of a multidisciplinary approach by a team of adult or paediatric cardiologists, geneticists, and genetic counsellors. Here we will discuss 1) different genomic testing approaches and the management of variants of uncertain significance, 2) management of patients with suspected genetic cardiomyopathy in a multidisciplinary team, and 3) the associations between genotypes and phenotypes of most commonly mutated genes such as MYH7, TNNT2, TPM1, MYBPC3, TTN, and others. In conclusion, genetic testing of patients with cardiomyopathies helps with proper diagnosis, prognosis, treatment, and identification of relatives at risk.