Clinical features and outcomes in carriers of pathogenic desmoplakin variants.
Alessio GasperettiRichard T CarrickAlexandros ProtonotariosBrittney MurrayMikael LaredoIris van der SchaafRonald H LekannePetros SyrrisDouglas E CannieCrystal TichnellChiara CappellettoMarta GigliKristen MedoArdan Muammer SagunerFirat DuruNisha A GilotraStefan L ZimmermanRobyn J HylindDominic J AbramsNeal K LakdawalaJulia Cadrin-TourignyMattia TargettiIacopo OlivottoMaddalena GraziosiMoniek G P J CoxElena BiaginiPhilippe CharronMichela CasellaClaudio TondoMomina YazdaniJames Simon WareSanjay K PrasadLeonardo CalòEric D SmithAdam S HelmsSophie HespeJodie InglesHarikrishna TandriFlavie AderGiovanni PerettoStacey PetersAri HortonJess YaoSven DittmannEric Schulze-BahrMaria QureshiKatelyn YoungEric D CarruthChris HaggertyVictoria N ParikhMatthew TaylorLuisa MestroniArthur A M WildeGianfranco SinagraMarco MerloEstelle GandjbakhchJ Peter van TintelenAnneline S J M Te RielePerry M ElliottHugh CalkinsCynthia A JamesPublished in: European heart journal (2024)
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.