Navarro-Manchón, J; Fernández, E; Igual, B; Asimaki, A; Syrris, P; Osca, J; ... Zorio, E; + view all Navarro-Manchón, J; Fernández, E; Igual, B; Asimaki, A; Syrris, P; Osca, J; Salvador, A; Zorio, E; - view fewer (2011) [Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin]. Rev Esp Cardiol , 64 (6) 530 - 534. 10.1016/j.recesp.2010.10.020.
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.
|Title:||[Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin].|
|Open access status:||An open access publication|
|Keywords:||Adult, Aged, Codon, Nonsense, DNA, Desmoplakins, Electrocardiography, Female, Genotype, Humans, Male, Pedigree, Phenotype, Tachycardia, Ventricular, Ventricular Dysfunction, Left|
|UCL classification:||UCL > School of Life and Medical Sciences > Faculty of Population Health Sciences > Institute of Cardiovascular Science|
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