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oai:repisalud.isciii.es:20.500.12105/230462024-11-29T00:42:48Zcom_20.500.12105_15322com_20.500.12105_2051col_20.500.12105_16967

00925njm 22002777a 4500 dc Helio, Tiina M author Elliott, Perry M author Koskenvuo, Juha W author Gimeno, Juan R author Tavazzi, Luigi author Tendera, Michal author Kaski, Juan Pablo author Mansencal, Nicolas author Bilinska, Zofia author Carr-White, Gerry author Damy, Thibaud author Frustaci, Andrea author Kindermann, Ingrid author Ripoll-Vera, Tomás author Celutkiene, Jelena author Axelsson, Anna author Lorenzini, Massimiliano author Saad, Aly author Maggioni, Aldo P author Laroche, Cecile author Caforio, Alida LP author Charron, Philippe author EORP Cardiomyopathy Registry Inves author 2020-10 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. Helio T, Elliott P, Koskenvuo JW, Gimeno JR, Tavazzi L, Tendera M, et al. ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients. ESC Heart Fail. 2020 Oct;7(5):3013-21. Epub 2020 Aug 7. 2055-5822 http://hdl.handle.net/20.500.13003/17239 https://hdl.handle.net/20.500.12105/23046 32767651 10.1002/ehf2.12925 ESC Heart Failure 2-s2.0-85089065275 556301900001 L2005793581 Cardiomyopathy Registry Genetic testing Genetic counselling Mutation Disease-causing variant ESC EORP Cardiomyopathy Registry: real-life practice of genetic counselling and testing in adult cardiomyopathy patients