biostudies-literatureCarrick RTSir Jules Thorn Charitable TrustBritish Heart FoundationUSZ FoundationNHLBI NIH HHSNIHR Royal Brompton Biomedical Research CentreNational Institutes of HealthGeorg und Bertha Schwyzer-Winiker FoundationZonMwNIHR Imperial College Biomedical Research CentreSwiss National Science FoundationRosetrees TrustNHLBIBaugarten FoundationSwiss Heart FoundationAlexander Jansons Myocarditis UKMedical Research CouncilNetherlands Cardiovascular Research InitiativeDutch Heart FoundationNIH HHS2968-2979https://www.ebi.ac.uk/biostudies/studies/S-EPMC11335372biostudies-literatureUnknown45(32)<h4>Background and aims</h4>Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. Patients harbouring these variants are at high risk for sustained ventricular arrhythmia (VA), but existing tools for individualized arrhythmic risk assessment have proven unreliable in this population.<h4>Methods</h4>Patients from the multi-national DSP-ERADOS (Desmoplakin SPecific Effort for a RAre Disease Outcome Study) Network patient registry who had pathogenic or likely pathogenic DSP variants and no sustained VA prior to enrolment were followed longitudinally for the development of first sustained VA event. Clinically guided, step-wise Cox regression analysis was used to develop a novel clinical toEuropean heart journalA novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.PMC11335372160327PREDICT2 2018-30FF17019R01HL164634T32HL007227L30HL165535R01 HL14706421JTAR01HL147064FS/CRTF/23/24448FF21073R01 HL141901RE/18/4/34215L30 HL165535Hylind RJPrasad SKTe Riele ASJMElliott PMedo KTaylor MPeters SMurray BTondo CWare JSSchulze-Bahr EWilde ACarruth EDYao JProtonotarios ASaguner AMLakdawala NKBiagini ETandri HParikh VNCharron PHaggerty CTichnell CCarrick RTSinagra GHorton AGilotra NACalo LDittman SSmith EDOlivotto IMerlo MYoung KQureshi MGandjbakhch EDooijes DAbrams DJIngles JWu KCGraziosi MCompagnucci PAder FJames CAMestroni LCalkins HConte GCasella MLaredo MCadrin-Tourigny JCannie DGasperetti ACappelletto CTargetti MSyrris PYazdani Mvan Tintelen JPDuru Fvan der Schaaf IHelms ASPeretto GCox MHespe SfalseA novel tool for arrhythmic risk stratification in desmoplakin gene variant carriers.<h4>Background and aims</h4>Pathogenic desmoplakin (DSP) gene variants are associated with the development of a distinct form of arrhythmogenic cardiomyopathy known as DSP cardiomyopathy. Patients harbouring these variants are at high risk for sustained ventricular arrhythmia (VA), but existing tools for individualized arrhythmic risk assessment have proven unreliable in this population.<h4>Methods</h4>Patients from the multi-national DSP-ERADOS (Desmoplakin SPecific Effort for a RAre Disease Outcome Study) Network patient registry who had pathogenic or likely pathogenic DSP variants and no sustained VA prior to enrolment were followed longitudinally for the development of first sustained VA event. Clinically guided, step-wise Cox regression analysis was used to develop a novel clinical to2024-01-01T00:00:00Z2024 Aug2026-07-16T18:50:35.766Z2025-04-04T00:08:45.168ZS-EPMC113353723901163010.1093/eurheartj/ehae409