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• W3208518827 abstract "ABSTRACT Background Truncating variants in desmoplakin ( DSP tv) are an important cause of arrhythmogenic cardiomyopathy (ACM), however the genetic architecture and genotype-specific risk factors are incompletely understood. We evaluated phenotype, risk factors for ventricular arrhythmias, and underlying genetics of DSP tv cardiomyopathy. Methods Individuals with DSP tv 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 DSP tv performed. Results There were 98 probands and 72 family members (mean age at diagnosis 43 ± 18 years, 59% female) with a DSP tv, 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. DSP tv location and proband status were independent risk factors for ventricular arrhythmia, while prior risk factors showed no association. Further, gene region was important with variants in cases (cohort n=98, Clinvar n=168) more likely to occur in the regions resulting in nonsense mediated decay of both major DSP isoforms, compared to n=124 gnomAD control variants (148 [83.6%] versus 29 [16.4%], p<0.0001). Conclusions In the largest series of individuals with DSP tv, we demonstrate variant location is a novel risk factor for ventricular arrhythmia, can inform variant interpretation, and provide critical insights to allow precision-based clinical management." @default.
• W3208518827 created "2021-11-08" @default.
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• W3208518827 date "2021-10-26" @default.
• W3208518827 modified "2023-09-30" @default.
• W3208518827 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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• W3208518827 doi "https://doi.org/10.1101/2021.10.16.21264154" @default.
• W3208518827 hasPublicationYear "2021" @default.
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