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. 2020 Oct;7(5):3013-3021.
doi: 10.1002/ehf2.12925. Epub 2020 Aug 7.

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

Tiina Heliö  1 , Perry Elliott  2 , Juha W Koskenvuo  3   4 , Juan R Gimeno  5 , Luigi Tavazzi  6 , Michal Tendera  7 , Juan Pablo Kaski  8 , Nicolas Mansencal  9 , Zofia Bilińska  10 , Gerry Carr-White  11 , Thibaud Damy  12 , Andrea Frustaci  13 , Ingrid Kindermann  14 , Tomas Ripoll-Vera  15 , Jelena Čelutkienė  16 , Anna Axelsson  17 , Massimiliano Lorenzini  2 , Aly Saad  18 , Aldo P Maggioni  6   19 , Cécile Laroche  19 , Alida L P Caforio  20 , Philippe Charron  21 ; EORP Cardiomyopathy Registry Investigators Group
Affiliations

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

Tiina Heliö et al. ESC Heart Fail. 2020 Oct.

Abstract

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.

Keywords: Cardiomyopathy; Disease-causing variant; Genetic counselling; Genetic testing; Mutation; Registry.

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Conflict of interest statement

Dr T.H. reports cardiology consultant at the Blueprint Genetics, personal fees from Sanofi Genzyme, personal fees from Amgen, personal fees from Pfizer, non‐financial support from Alnylam, and non‐financial support from MSD outside the submitted work. Dr J.W.K. reports other from Blueprint Genetics outside the submitted work. Dr L.T. reports personal fees from Servier and CVie Therapeutics outside the submitted work. Dr M.T. reports personal fees from Bayer, Cadila Pharmaceuticals, Janssen‐Cilag, Kowa, PERFUSE Group, Servier, UCB Pharmaceuticals, and OncoArendi outside the submitted work. Dr Z.B. reports grants from ERA‐CVD DETECTIN‐HF outside the submitted work. Dr T.D. reports grants, personal fees, and non‐financial support from Pfizer and Alnylam; grants, personal fees, and non‐financial support from Akcea Therapeutics; personal fees from GSK; and grants, personal fees, and non‐financial support from Novartis outside the submitted work. Prof. I.K. reports personal fees from AstraZeneca GmbH, Servier Germany GmbH, Novartis Pharma GmbH, Pfizer Germany GmbH/Pfizer Pharma GmbH, Akcea Therapeutics, Fresenius Medical Care GmbH, Boehringer Ingelheim Pharma GmbH & Co. KG, Vifor Pharma Germany GmbH, and Bayer Pharma AG outside the submitted work. Dr J.Č. reports personal fees from AstraZeneca, Berlin‐Chemie, Novartis, and Pfizer outside the submitted work. Dr M.L. reports personal fees from Pfizer outside the submitted work. Dr A.S. has nothing to disclose. Dr A.P.M. reports personal fees from Bayer, Fresenius, and Novartis outside the submitted work. Dr P.C. reports personal fees from Amicus and Pfizer and grants from Sanofi and Shire outside the submitted work. Other authors have nothing to disclose.

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