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Left Dominant Arrhythmogenic Cardiomyopathy Caused by a Novel Nonsense Mutation in Desmoplakin

Navarro-Manchon, J; Fernandez, E; Igual, B; Asimaki, A; Syrris, P; Osca, J; Salvador, A; (2011) Left Dominant Arrhythmogenic Cardiomyopathy Caused by a Novel Nonsense Mutation in Desmoplakin. REV ESP CARDIOL , 64 (6) 530 - 534. 10.1016/j.rec.2010.10.020. Gold open access

Abstract

Left dominant arrhythmogenic cardiomyopathy (LDAC) exhibits characteristic phenotypic and genetic features which were found in the five Spanish family members described in this study. Triggered by a cold, a young man presented with a ventricular tachycardia of left ventricular origin and left ventricular late gadolinium enhancement. His resting ECG showed low potentials, delayed ventricular depolarization (inferior and V4-V6 leads) and atrioventricular conduction disturbances. His endomyocardial biopsy revealed myocyte loss with interstitial fibrosis. Despite the initial diagnosis of myocarditis, familial screening was pivotal in confirming the diagnosis of LDAC. A novel nonsense mutation in the desmoplakin gene (Q1866X) and the truncated protein which it produces were observed in skin samples. (C) 2010 Sociedad Espanola de Cardiologia. Published by Elsevier Espana, S.L. All rights reserved.

Type: Article
Title: Left Dominant Arrhythmogenic Cardiomyopathy Caused by a Novel Nonsense Mutation in Desmoplakin
Open access status: An open access publication
DOI: 10.1016/j.rec.2010.10.020
Keywords: Left dominant arrhythmogenic cardiomyopathy, Desmoplakin, Cardiac MRI, RIGHT-VENTRICULAR DYSPLASIA/CARDIOMYOPATHY, TASK-FORCE CRITERIA, MAGNETIC-RESONANCE, DIAGNOSIS
UCL classification: UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science
URI: http://discovery.ucl.ac.uk/id/eprint/1316950
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