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

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...

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Published in:ESC Heart Failure 2020-10, Vol.7 (5), p.3013-3021
Main Authors: Heliö, Tiina, Elliott, Perry, Koskenvuo, Juha W., Gimeno, Juan R., Tavazzi, Luigi, Tendera, Michal, Kaski, Juan Pablo, Mansencal, Nicolas, Bilińska, Zofia, Carr‐White, Gerry, Damy, Thibaud, Frustaci, Andrea, Kindermann, Ingrid, Ripoll‐Vera, Tomas, Čelutkienė, Jelena, Axelsson, Anna, Lorenzini, Massimiliano, Saad, Aly, Maggioni, Aldo P., Laroche, Cécile, Caforio, Alida L.P., Charron, Philippe
Format: Article
Language:English
Subjects:
Cardiology
Cardiomyopathy
Cardiovascular disease
Counseling
Disease‐causing variant
Family medical history
Genetic counselling
Genetic testing
Genomics
Hypertension
Life Sciences
Mutation
Original
Original s
Patients
Registry
Variables
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Summary: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 
ISSN:2055-5822
2055-5822
DOI:10.1002/ehf2.12925