Navarro-Manchón Josep, Fernández Elena, Igual Begoña, Asimaki Angeliki, Syrris Petros, Osca Joaquín, Salvador Antonio, Zorio Esther
Departamento de Cardiología, Hospital La Fe, Valencia, España.
Rev Esp Cardiol. 2011 Jun;64(6):530-4. doi: 10.1016/j.recesp.2010.10.020. Epub 2011 Mar 31.
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.
左优势型致心律失常性心肌病（LDAC）具有特征性的表型和遗传特征，本研究中描述的5名西班牙家庭成员即表现出这些特征。一名年轻人因感冒诱发，出现左心室起源的室性心动过速和左心室钆延迟强化。他的静息心电图显示低电压、心室去极化延迟（下壁导联和V4-V6导联）以及房室传导障碍。他的心内膜活检显示心肌细胞丢失伴间质纤维化。尽管最初诊断为心肌炎，但家族筛查对于确诊LDAC至关重要。在皮肤样本中观察到桥粒斑蛋白基因的一个新的无义突变（Q1866X）及其产生的截短蛋白。
