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

Abstract

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. We assessed the current practice of genetic counselling and testing in the prospective ESC EORP cardiomyopathy registry. 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 < 0.001). Comparing European geographical areas, genetic counselling was performed from 42.4% to 83.3% ( P < 0.001). It was provided by a cardiologist (85.3%), geneticist (15.1%), genetic counsellor (11.3%), or a nurse (7.5%), ( P < 0.001). Genetic testing was performed in 37.3% of all patients (48.8% in HCM, 18.6% in DCM, 55.6% % in ARVC and 43.6% in RCM, P < 0.001). Index patients with genetic testing were younger at diagnosis, had more familial disease, family history of sudden cardiac death or implanted cardioverter defibrillators but less comorbidities than those not tested ( P < 0.001 for each comparison). At least 1 disease-causing variant was found in 41.7% of index patients with genetic testing (43.3% in HCM, 33.3% in DCM, 51.4% in ARVC and 42.9% in RCM, P = 0.13). 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.