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• W4313280729 abstract "Truncating variants in desmoplakin (DSPtv) are an important cause of arrhythmogenic cardiomyopathy; however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSPtv cardiomyopathy.Individuals with DSPtv and any cardiac phenotype, and their gene-positive family members were included from multiple international centers. Clinical data and family history information were collected. Event-free survival from ventricular arrhythmia was assessed. Variant location was compared between cases and controls, and literature review of reported DSPtv performed.There were 98 probands and 72 family members (mean age at diagnosis 43±8 years, 59% women) with a DSPtv, of which 146 were considered clinically affected. Ventricular arrhythmia (sudden cardiac arrest, sustained ventricular tachycardia, appropriate implantable cardioverter defibrillator therapy) occurred in 56 (33%) individuals. DSPtv location and proband status were independent risk factors for ventricular arrhythmia. Further, gene region was important with variants in cases (cohort n=98; Clinvar n=167) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared with n=124 genome aggregation database control variants (148 [83.6%] versus 29 [16.4%]; P<0.0001).In the largest series of individuals with DSPtv, we demonstrate that variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow for precision-based clinical management." @default.
• W4313280729 created "2023-01-06" @default.
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• W4313280729 date "2023-02-01" @default.
• W4313280729 modified "2023-09-30" @default.
• W4313280729 title "Variant Location Is a Novel Risk Factor for Individuals With Arrhythmogenic Cardiomyopathy Due to a Desmoplakin ( <i>DSP</i> ) Truncating Variant" @default.
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• W4313280729 cites W2149512606 @default.
• W4313280729 cites W2174602966 @default.
• W4313280729 cites W2320983896 @default.
• W4313280729 cites W2597123082 @default.
• W4313280729 cites W2612068534 @default.
• W4313280729 cites W2743241869 @default.
• W4313280729 cites W2899311313 @default.
• W4313280729 cites W2900214890 @default.
• W4313280729 cites W2911299823 @default.
• W4313280729 cites W2923049828 @default.
• W4313280729 cites W2952728907 @default.
• W4313280729 cites W2964071751 @default.
• W4313280729 cites W2978515721 @default.
• W4313280729 cites W2987661875 @default.
• W4313280729 cites W3003130796 @default.
• W4313280729 cites W3022047361 @default.
• W4313280729 cites W3025846957 @default.
• W4313280729 cites W3029661147 @default.
• W4313280729 cites W3035017768 @default.
• W4313280729 cites W3081055933 @default.
• W4313280729 cites W3120991620 @default.
• W4313280729 cites W3135882569 @default.
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• W4313280729 doi "https://doi.org/10.1161/circgen.121.003672" @default.
• W4313280729 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/36580316" @default.

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