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- W2886742529 abstract "Objective: The aim of the study was to compare clinical presentation of newly diagnosed patients with arrhythmogenic right ventricular cardiomyopathy (ARVC) by presence of genes mutations, and the effect of known genotype on the risk of ventricular tachyarrhythmias (VT/VF) or death. Methods: There were 109 newly identified probands diagnosed with ARVC according to the 2010 Task Force criteria for ARVC and tested for the following genes: (numbers of specific mutations identified are provided in parentheses): Plakophilin 2 (n=29), Plakoglobin (n=8), Desmocollin (n=1), Desmocollin 2 (n=1), Desmoglein (n=3), Desmoglein 2 (n=2), Desmoplakin (n=8). Results: There were 32 (29.4%) genotype positive patients for mutation in just one of the tested genes and 9 (8.3%) patients had 2 or 3 mutation concomitantly, in 6 of them the co-present mutation was Plakophilin 2. The remaining 68 (62%) patients were genotype negative for the above genes. Gene-positive patients for single and for multiple mutations patients and pat..." @default.
- W2886742529 created "2018-08-22" @default.
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- W2886742529 date "2015-11-10" @default.
- W2886742529 modified "2023-09-26" @default.
- W2886742529 title "Abstract 15736: The Effect Of Genotype on the Clinical Presentation and Outcomes in Newly Diagnosed Patients With ARVC" @default.
- W2886742529 hasPublicationYear "2015" @default.
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