Clinical features and outcomes in carriers of pathogenic desmoplakin variants

Patients with P/LP DSP variants experience high rates of sustained VA and HF hospitalizations. These patients demonstrate a distinct clinical phenotype (DSP cardiomyopathy), whose most prominent risk features associated with adverse clinical outcomes are the presence of prior non-sustained ventricular tachycardia or sustained VA, T-wave inversion in 3+ leads on electrocardiogram, LVEF ≤ 50%, and myocardial injury events.

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Publication Details

Journal
European Heart Journal
Published
2024-09-17
DOI
https://doi.org/10.1093/eurheartj/ehae571
Citations
54
Primary Topic
Cardiovascular Effects of Exercise
Type
article
Field-Weighted Citation Impact
21.71

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article

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

Sophie Hespe, Arthur A.M. Wilde, Anneline S.J.M. te Riele, Perry Elliott et al.
54 citations
European Heart Journal
Cardiovascular Effects of Exercise
21.71
article

Clinical features and outcomes in carriers of pathogenic desmoplakin variants

Sophie Hespe, Arthur A.M. Wilde, Anneline S.J.M. te Riele, Perry Elliott, Nisha A. Gilotra, Kristen Medo, Marta Gigli, Flavie Ader, Petros Syrris, James S. Ware, Alessio Gasperetti, Giovanni Peretto, Dominic Abrams, Estelle Gandjbakhch, Ardan M. Saguner, Gianfranco Sinagra, Hugh G Calkins, Iacopo Olivotto, Crystal Tichnell, Mikaël Laredo, Stacey Peters, Douglas Ewan Cannie, Iris van der Schaaf, Alexandros Protonotarios, Maddalena Graziosi, Brittney Murray, Robyn J. Hylind, Eric Carruth, Fırat Duru, Ari Horton, Neal K. Lakdawala, Victoria Nicole Parikh, Eric D. Smith, Maria Qureshi, Momina Yazdani, Claudio Tondo, Philippe Charron, Marco Merlo, Harikrishna Tandri, Michela Casella, Matthew R.G. Taylor, Eric Schulze‐Bahr, Luisa Mestroni, Julia Cadrin‐Tourigny, Stefan L. Zimmerman, Jodie Ingles, Chiara Cappelletto, Adam S. Helms, Katelyn Young, Elena Biagini, Mattia Targetti, Richard Carrick, Moniek G.P.J. Cox, Ronald H Lekanne, Sanjay Prasad Gupta, Sven Dittmann, Leonardo Calò, Jess Yao, J Peter van Tintelen, Chris Haggerty, Cynthia A James
article en
54 citations

Abstract

Patients with P/LP DSP variants experience high rates of sustained VA and HF hospitalizations. These patients demonstrate a distinct clinical phenotype (DSP cardiomyopathy), whose most prominent risk features associated with adverse clinical outcomes are the presence of prior non-sustained ventricular tachycardia or sustained VA, T-wave inversion in 3+ leads on electrocardiogram, LVEF ≤ 50%, and myocardial injury events.

European Heart JournalVol. 46(4)
Marche Polytechnic University (IT), Brigham and Women's Hospital (US), Boston Children's Hospital (US), Geisinger Medical Center (US), The Royal Melbourne Hospital (AU), University Medical Center Groningen (NL), Harvard University (US), Garvan Institute of Medical Research (AU), University of Trieste (IT), Johns Hopkins University (US), Vita-Salute San Raffaele University (IT), University of Milan (IT), Utrecht University (NL), Guy's and St Thomas' NHS Foundation Trust (GB), University of Zurich (CH), Université Paris Cité (FR), Cardiovascular Institute of the South (US), University of Michigan (US), Johns Hopkins Medicine (US), Royal Brompton & Harefield NHS Foundation Trust (GB), Montreal Heart Institute (CA), Harefield Hospital (GB), University Medical Center Utrecht (NL), UNSW Sydney (AU), Sorbonne Université (FR), Centro Cardiologico Monzino (IT), Sorbonne Paris Cité (FR), Assistance Publique – Hôpitaux de Paris (FR), University Hospital of Zurich (CH), Lung Institute (US), University Hospital Münster (DE), Meyer Children's Hospital (IL), Netherlands Heart Institute (NL), Zurich Heart House (CH), Meyer Children's Hospital (IT), Michigan Medicine (US), IRCCS Ospedale San Raffaele (IT), Stanford Medicine (US), Policlinico Casilino (IT), Amsterdam University Medical Centers (NL), Fondation pour l’innovation en Cadiométabolisme et Nutrition (FR), Geisinger Neuroscience Institute (US), MRC London Institute of Medical Sciences (GB), Institut de Biochimie et Biophysique Moléculaire et Cellulaire (FR), Azienda Sanitaria Universitaria Integrata di Trieste (IT), Istituto di Ricovero e Cura a Carattere Scientifico San Raffaele (IT), University of Florence (IT), University College London (GB), Imperial College London (GB), University of Colorado Anschutz Medical Campus (US), Université de Montréal (CA), University of Amsterdam (NL), Stanford University (US)
National Science Foundation, Johns Hopkins University, Miyuki Giken, British Heart Foundation, Sir Jules Thorn Charitable Trust, Research Councils UK, Rosetrees Trust, Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung, ZonMw, Hartstichting, Elektrobit, Ministero della Salute, Schweizerische Herzstiftung, Baugarten Stiftung, Georg und Bertha Schwyzer-Winiker-Stiftung, Peter French Memorial Foundation, National Institutes of Health, NIHR Imperial Biomedical Research Centre, National Heart, Lung, and Blood Institute
Openalex Percentile: Top 0%
Cardiovascular Effects of Exercise
21.71
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