Real-life clinical practice of genetic counselling and testing in adult patients with cardiomyopathies: Insight from the ESC EORP Cardiomyopathy Registry

Background Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. Genetic counselling and testing are recommended but the practices in real-life have not been evaluated. Purpose We assessed the current practice of genetic counselling and testing in the prospective ESC EORP cardiomyopathy registry. Methods and results 3208 adult patients from sixty-nine centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients (75.4% in hypertrophic (HCM), 39.2% in dilated (DCM), 70.8% in arrhythmogenic right ventricular (ARVC) and 49.2% in restrictive cardiomyopathy (RCM), P  Conclusions This is the first detailed report on the real-life practice of genetic counselling and testing in cardiomyopathies in Europe. Genetic counselling and testing were performed in a substantial proportion of patients but less often than recommended by European guidelines, and much less in DCM than in HCM and ARVC, despite evidence for genetic background.