Clinical features and outcomes in carriers of pathogenic desmoplakin variants
European Heart Journal

Abstract
Pathogenic variants in the desmoplakin (
All patients with pathogenic/likely pathogenic (P/LP)
Eight hundred patients [40.3 ± 17.5 years, 47.5% probands, left ventricular ejection fraction (LVEF) 49.5 ± 13.9%] were included. Over 3.7 [1.4–7.1] years, 139 (17.4%, 3.9%/year) and 72 (9.0%, 1.8%/year) patients experienced sustained VA and HF episodes, respectively. A total of 32.5% of individuals did not fulfil diagnostic criteria for ARVC, DCM, or NDLVC; their VA incidence was 0.5%/year. In multivariable regression, risk features associated with the development of VA were female sex [adjusted hazard ratio (aHR) 1.547;
Patients with P/LP
Contributors

Philippe Charron
Author

Momina Yazdani
Author

James S Ware
Author
Imperial College London London , United Kingdom of Great Britain & Northern Ireland

Sanjay K Prasad
Author

Leonardo Calò
Author

Richard T Carrick
Author

Eric D Smith
Author

Alexandros Protonotarios
Author
University College London London , United Kingdom of Great Britain & Northern Ireland

Brittney Murray
Author

Adam S Helms
Author

Mikael Laredo
Author

Sophie Hespe
Author

Harikrishna Tandri
Author

Iris van der Schaaf
Author

Ronald H Lekanne
Author

Flavie Ader
Author

Petros Syrris
Author

Giovanni Peretto
Author

Douglas Cannie
Author

Crystal Tichnell
Author

Stacey Peters
Author

Chiara Cappelletto
Author

Marta Gigli
Author

Kristen Medo
Author

Ardan M Saguner
Author

Firat Duru
Author

Ari Horton
Author

Jess Yao
Author

Sven Dittmann
Author

Maria Qureshi
Author

Nisha A Gilotra
Author

Katelyn Young
Author

Eric D Carruth
Author

Stefan Zimmerman
Author

Chris Haggerty
Author

Robyn Hylind
Author

Dominic J Abrams
Author

Victoria N Parikh
Author

Matthew Taylor
Author

Luisa Mestroni
Author

Mattia Targetti
Author

Maddalena Graziosi
Author

Moniek Cox
Author

Marco Merlo
Author

J Peter van Tintelen
Author

Anneline S J M te Riele
Author

Perry M Elliott
Author

Hugh Calkins
Author

Cynthia A James
Author
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