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

Tiina HeliöPerry ElliottJuha W KoskenvuoJuan R GimenoLuigi TavazziMichal TenderaJuan Pablo KaskiNicolas MansencalZofia BilińskaGerry Carr-WhiteThibaud DamyAndrea FrustaciIngrid KindermannTomas Ripoll-VeraJelena ČelutkienėAnna AxelssonMassimiliano LorenziniAly SaadAldo P MaggioniCécile LarocheAlida L P CaforioPhilippe Charronnull null

Published in: ESC heart failure (2020)

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.

Keyphrases

end stage renal disease
ejection fraction
newly diagnosed
healthcare
chronic kidney disease
genome wide
primary care
heart failure
copy number
prognostic factors
patient reported
young adults
human immunodeficiency virus