ArticlemedRxiv : the preprint server for health sciences2025
Diagnostic Criteria and Disease Staging for Desmoplakin Cardiomyopathy.
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64 authors.
Eric SmithDepartment of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, USA.ORCID 0000-0002-5915-9492
Alessio GasperettiDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.ORCID 0000-0003-3432-070X
Richard T CarrickDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Alexandros ProtonotariosInherited Cardiovascular Diseases Unit, St Bartholomew's Hospital, UCL Institute of Cardiovascular Science, London, UK.
Petros SyrrisInherited Cardiovascular Diseases Unit, St Bartholomew's Hospital, UCL Institute of Cardiovascular Science, London, UK.ORCID 0000-0002-2363-8758
Barbara BauceDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.ORCID 0000-0001-7357-293X
Kalliopi PilichouDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.ORCID 0000-0003-3646-0669
Brittney MurrayDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Crystal TichnellDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.
Cristina BassoDepartment of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua, Padua, Italy.ORCID 0000-0002-0195-9753
Paul Anders Sletten OlsenProCardio Center for Research Based Innovation, Oslo University Hospital, Rikshospitalet, Oslo Norway, and University of Oslo, Oslo, Norway.
Chiara CappellettoDivision of Cardiology, Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy.ORCID 0000-0001-5447-5595
Victoria N ParikhStanford Center for Inherited Cardiovascular Disease, Division of Cardiovascular Medicine, Department of Medicine, Stanford University School of Medicine, Stanford, CA, USA.ORCID 0000-0002-5138-5559
Liang ChenState Key Laboratory of Cardiovascular Disease, National Clinical Research Center for Cardiovascular Diseases, Fuwai Hospital, National Center for Cardiovascular Diseases, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.ORCID 0000-0001-6374-112X
Stacey PetersRoyal Melbourne Hospital, Melbourne, Victoria Australia 3050.ORCID 0000-0002-3593-3228
Antonella MancinelliS.S.D. Chirurgia dei Trapianti e del Trattamento Chirurgico dello Scompenso, Dipartimento Cardiovascolare, ASST Papa Giovanni XXIII, Bergamo.
Anna Maria IorioS.S.D. Chirurgia dei Trapianti e del Trattamento Chirurgico dello Scompenso, Dipartimento Cardiovascolare, ASST Papa Giovanni XXIII, Bergamo.
Roberta ScottoClinical Cardiology, Department of Medical Sciences and Public Health, University of Cagliari, Italy.
Julia Cadrin-TourignyCardiovascular Genetics Center, Montreal Heart Institute, Université de Montréal, Montréal, QC, Canada.ORCID 0000-0002-7489-8744
Nisha A GilotraDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.ORCID 0000-0002-4511-8008
Manuela IseppiDivision of Cardiology, Santa Chiara Hospital in Trento, Trento, Italy.ORCID 0009-0006-9721-9755
Giovanni PerettoDivision of Cardiology, San Raffaele University Hospital, Milan, Italy.ORCID 0000-0003-1815-4000
Marco SchiavoneCentro Cardiologico Monzino, IRCCS, Dept of Clinical Electrophysiology & Cardiac Pacing, Milan, Italy.ORCID 0000-0003-0720-3380
Mark AbelaDepartment of Cardiology, Mater Dei Hospital, MSD 2090, Malta.ORCID 0000-0003-1050-1637
Daniela VargasArrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona. Barcelona (Spain); European Reference Network for rare, low prevalence and complex diseases of the heart - ERN GUARD-Heart.
Cinzia CrescenziDepartment of Cardiology, Policlinico Casilino, Rome, Italy.ORCID 0000-0003-0501-608X
Leonardo CalòDepartment of Cardiology, Policlinico Casilino, Rome, Italy.ORCID 0000-0002-4752-8617
James WareRoyal Brompton & Harefield Hospitals, Guy's and St. Thomas' NHS Foundation Trust, London, UK.ORCID 0000-0002-6110-5880
Lia CrottiIstituto Auxologico Italiano, IRCCS, Center for Cardiac Arrhythmias of Genetic Origin and Laboratory of Cardiovascular Genetics, Milan, Italy; Department of Medicine and Surgery, Università Milano-Bicocca, Milan, Italy.ORCID 0000-0001-8739-6527
Michele CiabattiDepartment of Cardiology, Arezzo University Hospital, Arezzo, Italy.ORCID 0000-0003-4303-4537
Michela CasellaDepartment of Clinical, Special and Dental Sciences, Marche Polytechnic University, Ancona, Italy; Maria Cecilia Hospital, GVM Care & Research, Cotignola, Italy.ORCID 0000-0002-5322-1742
Alexandra ApostuUniversity of Medicine and Pharmacy "Carol Davila", Department of Cardiology, Emergency Institute for Cardiovascular Diseases, Bucharest, Romania; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.
Ruxandra JurcutUniversity of Medicine and Pharmacy "Carol Davila", Department of Cardiology, Emergency Institute for Cardiovascular Diseases, Bucharest, Romania; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.
Claudia RaineriDivision of Cardiology, Cardiovascular and Thoracic Department, 'Città Della Salute e Della Scienza' Hospital, Torino, Italy.
Filippo AngeliniDivision of Cardiology, Cardiovascular and Thoracic Department, 'Città Della Salute e Della Scienza' Hospital, Torino, Italy.ORCID 0000-0003-4711-0891
Carlos Fernández-SellersCAFAMUSME Research Group, Instituto de Investigación Sanitaria La Fe de Valencia, Spain.
Esther ZorioCAFAMUSME Research Group, Instituto de Investigación Sanitaria La Fe de Valencia, Spain.
Sing-Chien YapDepartment of Cardiology, Thorax Center, Cardiovascular Institute, Erasmus MC, Rotterdam, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0003-4520-2725
Moniek G CoxDepartment of Cardiology, University Medical Centre Groningen, Groningen, The Netherlands.ORCID 0000-0003-2825-8428
Arman SalavatiDivision of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.
Anneline Te RieleDivision of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0002-4694-4790
Arthur WildeAmsterdam UMC location University of Amsterdam, Department of Cardiology, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and arrhythmias, Amsterdam, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0002-0528-0852
Ahmad S AminAmsterdam UMC location University of Amsterdam, Department of Cardiology, Meibergdreef 9, Amsterdam, the Netherlands; Amsterdam Cardiovascular Sciences, Heart Failure and arrhythmias, Amsterdam, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0002-1600-7907
Peter van TintelenDivision of Cardiology, University Medical Center Utrecht, Utrecht, the Netherlands; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0003-3854-6749
Ardan M SagunerDepartment of Cardiology, Arrhythmia Unit, University Heart Center, University Hospital Zurich, Zurich, Switzerland.ORCID 0000-0003-1896-0803
Firat DuruDepartment of Cardiology, Arrhythmia Unit, University Heart Center, University Hospital Zurich, Zurich, Switzerland.ORCID 0000-0002-4748-0158
Dominic AbramsCenter for Cardiovascular Genetics, Boston Children's Hospital and Harvard Medical School, Boston, Massachusetts, USA.ORCID 0000-0001-5266-2805
Marina CerroneLeon H. Charney Division of Cardiology, New York University Grossmann School of Medicine, New York, New York.ORCID 0000-0002-6122-9939
Maddalena GraziosiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.
Elena BiaginiCardiology Unit, Cardiac Thoracic and Vascular Department, IRCCS Azienda Ospedaliero-Universitaria di Bologna, Bologna, Italy; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0003-0295-0440
Juan Ramon GimenoDivision of Cardiology, Virgen de la Arrixaca University Clinical Hospital, Murcia, Spain; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.ORCID 0000-0001-5818-1754
Estelle GandjbakhchSorbonne Université, AP-HP, IHU-ICAN, Groupe Hospitalier Pitié-Salpêtrière, Institut de Cardiologie, Paris, France; Member of the European Reference Network for rare, low prevalence and complex diseases of the heart: ERN GUARD-Heart.
Neal LakdawalaCenter for Advanced Heart Disease, Brigham and Women's Hospital Cardiovascular Medicine, Boston, MA, USA.ORCID 0000-0001-6458-5421
Maurizio PieroniDepartment of Experimental and Clinical Medicine, University of Florence, Meyer Children Hospital and Careggi University Hospital, Florence, Italy.ORCID 0000-0002-6830-4292
Marco MerloDivision of Cardiology, Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy.ORCID 0000-0002-1022-3131
Gianfranco SinagraDivision of Cardiology, Cardiothoracovascular Department, Azienda Sanitaria Universitaria Giuliano Isontina and University of Trieste, Trieste, Italy.ORCID 0000-0003-2700-8478
Kristina HaugaaProCardio Center for Research Based Innovation, Oslo University Hospital, Rikshospitalet, Oslo Norway, and University of Oslo, Oslo, Norway.ORCID 0000-0002-4900-0453
Elena ArbeloArrhythmia Section, Cardiology Department, Hospital Clínic, Universitat de Barcelona. Barcelona (Spain); European Reference Network for rare, low prevalence and complex diseases of the heart - ERN GUARD-Heart.ORCID 0000-0003-0424-6393
Perry M ElliottInherited Cardiovascular Diseases Unit, St Bartholomew's Hospital, UCL Institute of Cardiovascular Science, London, UK.ORCID 0000-0003-3383-3984
Matthew TaylorUniversity of Colorado Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0001-9043-0810
Luisa MestroniUniversity of Colorado Cardiovascular Institute, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.ORCID 0000-0003-1116-2286
Hugh CalkinsDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.ORCID 0000-0002-9262-9433
Cynthia A JamesDepartment of Medicine, Division of Cardiology Johns Hopkins University School of Medicine, Baltimore, MD, United States.ORCID 0000-0001-8040-4600
Adam S HelmsDepartment of Internal Medicine, Division of Cardiovascular Medicine, University of Michigan, Ann Arbor, USA.ORCID 0000-0002-0234-6430
Funding
QAQC Johns Hopkins Institute for Clinical and Translational ResearchUL1TR003098 · NCATS · JOHNS HOPKINS UNIVERSITY · PI FORD, DANIEL ERNEST · 2019 to 2023
$57.7MPATHOPHYSIOLOGY OF MYOCARDIAL DISEASEST32HL007227 · NHLBI · JOHNS HOPKINS UNIVERSITY · PI Chulan Kwon, WENDY S POST · 1985 to 2026
$21.2MNCATS NIH HHS UL1 TR003098NHLBI NIH HHS L30 HL165535NHLBI NIH HHS T32 HL007227
Abstract
Background: Desmoplakin (DSP) cardiomyopathy, caused by variants in the gene Objective: Utilizing a large cohort of DSP cardiomyopathy patients and their genotype-positive family members, this study aims to develop diagnostic and disease staging criteria for DSP cardiomyopathy. Methods: Patients from the Results: A total of 605 patients with complete diagnostic testing were included (mean age 40 yr, 60% female, 40% probands). The most prevalent disease features in probands were premature ventricular contractions (PVCs) >500/24hr (66%), nonsustained ventricular tachycardia (NSVT, 29%), LV late gadolinium enhancement (LGE, 53%), and reduced LVEF (44%). The presence of any one of these features was 97% sensitive for diagnosis (along with a Conclusion: This study identifies genotype-specific diagnostic and disease staging criteria for DSP cardiomyopathy that improve identification of risk for both heart failure and sustained ventricular arrhythmias. This work highlights how gene-specific criteria may be used to refine diagnosis and staging for cardiomyopathy subtypes - a critical step as gene-targeted treatments move toward clinical trials.
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