ReviewCirculation. Genomic and precision medicine2023
Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin (
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Review in Circulation. Genomic and precision medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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20citing papers in PubMed
3.9field-weighted citation impact, top 5% of its field
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Who cites it
20 citing papers in PubMed, 25 citations in OpenAlex.
- Arrhythmogenic right ventricular cardiomyopathy.European heart journal · 2026Review
- Familial Dilated Cardiomyopathy Associated with a Desmoplakin Variant: A Case Report.Acta Cardiologica Sinica · 2026Article
- Disease penetrance and phenotypic spectrum of desmoplakin variant carriers in the population.Heart rhythm · 2026Article
- Electrical storm in pregnancy uncovering an arrhythmogenic cardiomyopathy: a case report.European heart journal. Case reports · 2026Article
- High-Throughput Methods for Variant Functional Assessment in Cardiac Disease.Circulation. Genomic and precision medicine · 2026Review
- Recurrent Ventricular Tachycardia in a Young Adult-Imaging and Genetic Evidence ofCase reports in cardiology · 2026Article
- Risk stratification in early non-ischaemic cardiomyopathy: the interplay of genetics and cardiac imaging.Frontiers in cardiovascular medicine · 2026Review
- Prognostic Role of Myocarditis-Like Episodes and Their Treatment in Patients With Pathogenic Desmoplakin Variants.Circulation · 2025Observational
- Review
- Predicted Risk of Ventricular Arrhythmias in a Genome-First Population With Genetic Risk for Arrhythmogenic Right Ventricular Cardiomyopathy.Circulation. Arrhythmia and electrophysiology · 2025Article
- Clinical features and outcomes in carriers of pathogenic desmoplakin variants.European heart journal · 2025Article
- State of the art and perspectives of gene therapy in heart failure. A scientific statement of the Heart Failure Association of the ESC, the ESC Council on Cardiovascular Genomics and the ESC Working Group on Myocardial & Pericardial Diseases.European journal of heart failure · 2025Review
- Case report: desmoplakin cardiomyopathy presenting as an inflammatory cardiomyopathy with repeated sudden cardiac arrests.European heart journal. Case reports · 2024Article
- Recurrent immunosuppressive-responsive myocarditis in a patient with desmoplakin cardiomyopathy: a case report.European heart journal. Case reports · 2024Article
- A new prediction model for sustained ventricular tachycardia in arrhythmogenic cardiomyopathy.Frontiers in cardiovascular medicine · 2024Article
- Enhancing the interpretation of genetic observations in KCNQ1 in unselected populations: relevance to secondary findings.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- Arrhythmic risk stratification in arrhythmogenic right ventricular cardiomyopathy.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology · 2023Article
- From founder to function: Can we unravel phenotype from genotype?Heart rhythm · 2023Article
- The Many Faces of Arrhythmogenic Cardiomyopathy: An Overview.The application of clinical genetics · 2023Review
- The role of genetic testing in diagnosis and care of inherited cardiac conditions in a specialised multidisciplinary clinic.Genome medicine · 2022Article
Corrections and comments
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Authors and funding
49 authors at 20 institutions in 8 countries.
Edgar T Hoorntje *Department of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).
Charlotte Burns *Agnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).
Luisa MarsiliDepartment of Clinical Genetics, Amsterdam University Medical Centre, location AMC, University of Amsterdam, the Netherlands (L.M., J.P.v.T.).ORCID 0000-0002-6691-541X
Ben CordenNational Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.).
Victoria N ParikhStanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.).ORCID 0000-0002-5138-5559
Gerard J Te MeermanDepartment of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).ORCID 0000-0002-5615-8304
Belinda GrayAgnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).ORCID 0000-0002-9966-0329
Ahmet AdiyamanDepartment of Cardiology, Isala Heart Center, Zwolle (A.A.).
Richard D BagnallAgnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).ORCID 0000-0002-2476-9864
Daniela Q C M Barge-SchaapveldDepartment of Clinical Genetics, Leiden University Medical Centre (D.Q.C.M.B.-S., A.M.v.M.).ORCID 0000-0003-4461-4293
Maarten P van den BergDepartment of Cardiology, University of Groningen, University Medical Centre Groningen (M.P.v.d.B., G.v.W.).ORCID 0000-0002-1493-2998
Marianne BootsmaDepartment of Cardiology, University of Leiden, Leiden University Medical Centre (M.B.).ORCID 0000-0003-1325-968X
Laurens P BosmanNetherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).ORCID 0000-0002-7847-4607
Gemma CorrentiAdult Genetics Unit, Royal Adelaide Hospital and Faculty of Health and Medical Sciences, University of Adelaide (G.C.).
Johan DuflouAgnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).ORCID 0000-0001-5863-635X
Ruben N Eppinga
Diane FatkinVictor Chang Cardiac Research Institute, Sydney (D.F.).ORCID 0000-0002-9010-9856
Michael FietzDepartment of Diagnostic Genomics, PathWest Laboratory, Medicine WA, Redlands, Australia (M.F.).
Eric HaanORCID 0000-0002-7310-5124
Jan D H JongbloedDepartment of Genetics, University Medical Centre Groningen, University of Groningen (E.T.H., G.J.t.M., J.D.H.J.).ORCID 0000-0003-0663-404X
Arnaud D HauerDepartment of Cardiology, Haga Teaching Hospital, the Hague (A.D.H.).
Lien LamNetherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).
Freyja H M van LintDepartment of Genetics, University of Utrecht, University Medical Centre Utrecht, the Netherlands (F.H.M.v.L., J.P.v.T.).
Amrit LotaNational Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.).ORCID 0000-0001-5653-8211
Carlo MarcelisDepartment of Clinical Genetics, Radboud University Medical Centre, Nijmegen, the Netherlands (C.M.).ORCID 0000-0001-7095-4641
Hugh J McCarthyDepartment of Clinical Genetics, Children's Hospital Westmead, Sydney, Australia (H.J.M.).ORCID 0000-0001-7357-4310
Anneke M van MilDepartment of Clinical Genetics, Leiden University Medical Centre (D.Q.C.M.B.-S., A.M.v.M.).ORCID 0000-0003-1297-3697
Rogier A OldenburgDepartment of Clinical Genetics, Erasmus University Medical Centre, Rotterdam, the Netherlands (R.A.O.).
Nicholas PachterGenetic Services of Western Australia, Perth, Australia (N.P.).ORCID 0000-0002-8144-1363
R Nils PlankenDepartment of Radiology and Nuclear Medicine, Amsterdam University Medical Centre, Amsterdam, the Netherlands (R.N.P.).ORCID 0000-0003-3940-4670
Chloe ReuterStanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.).ORCID 0000-0002-0429-9922
Christopher SemsarianAgnes Ginges Centre for Molecular Cardiology at Centenary Institute (C.B., B.G., R.D.B., C.S.).ORCID 0000-0001-6441-274X
Jasper J van der SmagtORCID 0000-0002-6210-3326
Tina ThompsonDepartment of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).ORCID 0000-0002-9405-6595
Jitendra VohraDepartment of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).ORCID 0000-0002-5676-5323
Paul G A VoldersDepartment of Cardiology, Cardiovascular Research Institute Maastricht (CARIM) (P.G.A.V.).ORCID 0000-0002-2652-1598
Jaap I van Waning
Nicola WhiffinNational Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.).ORCID 0000-0003-1554-6594
Arthur van den WijngaardDepartment of Clinical Genetics, Laboratory Clinical Genetics, Maastricht University Medical Centre (A.v.d.W.).
Ahmad S AminDepartment of Clinical and Experimental Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., A.A.M.W.).
Arthur A M WildeDepartment of Clinical and Experimental Cardiology, Heart Centre, Amsterdam University Medical Centre, location AMC, the Netherlands (A.S.A., A.A.M.W.).ORCID 0000-0002-0528-0852
Gijs van WoerdenDepartment of Cardiology, University of Groningen, University Medical Centre Groningen (M.P.v.d.B., G.v.W.).
Laura YeatesFaculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).ORCID 0000-0001-8348-815X
Dominica ZentnerDepartment of Cardiology and Department of Genomic Medicine, Royal Melbourne Hospital (T.T., J.V., D.Z.).ORCID 0000-0003-0437-1581
Euan A AshleyStanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.).ORCID 0000-0001-9418-9577
Matthew T WheelerStanford Centre for Inherited Cardiovascular Disease, Department of Medicine, Stanford University School of Medicine, CA (V.N.P., C.R., E.A.A., M.T.W.).ORCID 0000-0001-8721-3022
James S Ware *National Heart and Lung Institute and MRC London Institute of Medical Science, Imperial College London and Cardiovascular Research Centre, Royal Brompton and Harefield NHS Foundation Trust, London, UK (B.C., A.L., N.W., J.S.W.).ORCID 0000-0002-6110-5880
J Peter van Tintelen *Netherlands Heart Institute, Utrecht, the Netherlands (E.T.H., L.P.B., L.L., J.P.v.T.).ORCID 0000-0003-3854-6749
Jodie Ingles *Faculty of Medicine and Health (C.B., B.G., R.D.B., J.D., C.S., L.Y., J.I.).ORCID 0000-0002-4846-7676
University Medical Center Groningen · NLRoyal Brompton & Harefield NHS Foundation Trust · GBRoyal Prince Alfred Hospital · AUStanford University · USUtrecht University · NLAmsterdam University Medical Centers · NLLeiden University Medical Center · NLThe Royal Melbourne Hospital · AUErasmus MC · NLCentenary College of Louisiana · USCentre Hospitalier Universitaire de Lille · FRChildren's Hospital at Westmead · AUGarvan Institute of Medical Research · AUHaga Hospital · NLIsala · NLJacobson Holman (United States) · USMaastricht University · NLMaastricht University Medical Centre · NLNetherlands Heart Institute · NLPathwest Laboratory Medicine · AU
Funding
British Heart Foundation RE/18/4/34215British Heart Foundation SP/17/11/32885Medical Research Council MC_U120085815Medical Research Council MC_UP_1102/20Wellcome Trust 107469
Abstract
backgroundTruncating variants in desmoplakin (
methodsIndividuals with
resultsThere were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a
conclusionsIn the largest series of individuals with
Indexed as
Arrhythmogenic Right Ventricular DysplasiaCardiomyopathiesDesmoplakinsArrhythmias, CardiacFemaleHumansMaleRisk FactorsDesmoplakinscardiomyopathiesdeath, sudden cardiacdesmoplakinsgenetic testingprimary
Identifiers
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