title: [Left dominant arrhythmogenic cardiomyopathy caused by a novel nonsense mutation in desmoplakin].
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.
authors: Departamento de Cardiología, Hospital La Fe, Valencia, España.
authors: Josep
authors: J
authors: Navarro-Manchón
authors: Elena
authors: E
authors: Fernández
authors: Begoña
authors: B
authors: Igual
authors: Angeliki
authors: A
authors: Asimaki
authors: Petros
authors: P
authors: Syrris
authors: Joaquín
authors: J
authors: Osca
authors: Antonio
authors: A
authors: Salvador
authors: Esther
authors: E
authors: Zorio
mesh_terms: D000328:Adult; D000368:Aged; D018389:Codon, Nonsense; D004247:DNA / Q000235:genetics; D051180:Desmoplakins / Q000235:genetics*; D004562:Electrocardiography; D005260:Female; D005838:Genotype; D006801:Humans; D008297:Male; D010375:Pedigree; D010641:Phenotype; D017180:Tachycardia, Ventricular / Q000175:diagnosis / Q000235:genetics*; D018487:Ventricular Dysfunction, Left / Q000175:diagnosis / Q000235:genetics*
chemical_list: D018389:Codon, Nonsense; D051180:Desmoplakins; D004247:DNA