High risk of heart failure associated with desmoglein-2 mutations compared to plakophilin-2 mutations in arrhythmogenic right ventricular cardiomyopathy/dysplasia
European Journal of Heart Failure Feb 27, 2019
Hermida A, et al. - Researchers assessed the consequence of carrying a desmoglein-2 (DSG2) mutation vs that of carrying a plakophilin-2 (PKP2) mutation (most common arrhythmogenic right ventricular cardiomyopathy/dysplasia- associated gene). Ultimately, 118 patients from 78 families were enrolled, with 27 (23%) carrying a DSG2 mutation and 91 (77%) a PKP2 mutation. They observed no significant variations between DSG2 and PKP2 mutation carriers at baseline concerning gender, proband status, age at diagnosis, T-wave inversion, or right ventricular dysfunction. They recorded more frequent epsilon wave and left ventricular dysfunction at diagnosis (54% vs 10%) among those with DSG2. In univariate Cox analysis, they suggested the presence of a DSG2 mutation vs PKP2 mutation as a predictor of transplantation/HF-related death.
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