Clinical Epidemiology and Ageing


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ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients

Heliö T, Elliott P, Koskenvuo JW, Gimeno JR, Tavazzi L, Tendera M, Kaski JP, Mansencal N, Bilińska Z, Carr-White G, Damy T, Frustaci A, Kindermann I, Ripoll-Vera T, Čelutkienė J, Axelsson A, Lorenzini M, Saad A, Maggioni AP, Laroche C, Caforio ALP, Charron P ESC Heart FailESC Heart FailESC Heart Fail. 2020;7:3013-3021.

AIMS: Cardiomyopathies comprise a heterogeneous group of diseases, often of genetic origin. We assessed the current practice of genetic counselling and testing in the prospective European Society of Cardiology EURObservational Research Programme Cardiomyopathy Registry. METHODS AND RESULTS: A total of 3208 adult patients from 69 centres in 18 countries were enrolled. Genetic counselling was performed in 60.8% of all patients [75.4% in hypertrophic cardiomyopathy (HCM), 39.2% in dilated cardiomyopathy (DCM), 70.8% in arrhythmogenic right ventricular cardiomyopathy (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 and had more familial disease, family history of sudden cardiac death, or implanted cardioverter defibrillators but less co-morbidities than those not tested (P < 0.001 for each comparison). At least one 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). 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.

MeSH terms: *Cardiomyopathies/diagnosis/epidemiology/genetics; *Genetic Counseling; Adult; and grants from Sanofi and Shire outside the submitted work. Other authors have; and grants, personal fees, and non‐financial support from Novartis; Berlin‐Chemie, Novartis, and Pfizer outside the submitted work. Dr M.L. reports; Cardiomyopathy; disclose. Dr A.P.M. reports personal fees from Bayer, Fresenius, and Novartis; Disease-causing variant; Europe/epidemiology; from GSK; from Sanofi Genzyme, personal fees from Amgen, personal fees from Pfizer,; Genetic counselling; Genetic Testing; GmbH, Servier Germany GmbH, Novartis Pharma GmbH, Pfizer Germany GmbH/Pfizer; grants from ERA‐CVD DETECTIN‐HF outside the submitted work. Dr T.D. reports; grants,; grants, personal fees, and non‐financial support from Pfizer and Alnylam; Humans; Ingelheim Pharma GmbH & Co. KG, Vifor Pharma Germany GmbH, and Bayer Pharma AG; Mutation; non‐financial support from Alnylam, and non‐financial support from MSD outside; nothing to disclose.; outside the submitted work. Dr J.Č. reports personal fees from AstraZeneca,; outside the submitted work. Dr M.T. reports personal fees from Bayer, Cadila; outside the submitted work. Dr P.C. reports personal fees from Amicus and Pfizer; outside the submitted work. Prof. I.K. reports personal fees from AstraZeneca; personal fees; personal fees from Pfizer outside the submitted work. Dr A.S. has nothing to; personal fees, and non‐financial support from Akcea Therapeutics; Pharma GmbH, Akcea Therapeutics, Fresenius Medical Care GmbH, Boehringer; Pharmaceuticals, and OncoArendi outside the submitted work. Dr Z.B. reports; Pharmaceuticals, Janssen‐Cilag, Kowa, PERFUSE Group, Servier, UCB; Prospective Studies; Registries; Registry; submitted work. Dr L.T. reports personal fees from Servier and CVie Therapeutics; the submitted work. Dr J.W.K. reports other from Blueprint Genetics outside the