Zakliaz'minskaia E V, Chapurnykh A V, Voronina T S, Van E Iu, Shestak A G, Saber S, Dzemeshkevich S L
Kardiologiia. 2014;54(3):92-6. doi: 10.18565/cardio.2014.3.92-96.
Dilated cardiomyopathy (DCM) is myocardial disorder characterized by progressive heart chambers enlargement and impairment of myocardial contractility. This disorder is the most common cause of advanced heart failure requiring the heart transplantation. The prevalence of the disease is 36.5 per 100 000 in population. About 20-30% of cases are familial. Disease is genetically heterogenous, there more than 100 genes when mutated can give rise a DCM. In 2004, the role of SCN5A gene mutations was shown in origin of DCM with cardiac conduction defects and arrhythmias. In this work we present a clinical case of dilated cardiomyopathy with cardiac arrhythmias and p.E446K mutation in SCN5A gene. We have observed DCM with mild left ventricular hypertrophy, progressive AV block, atrial fibrillation and congenital heart defect (atrium septal defect) in two generations. The congenital heart defect did not co-segregate with SCN5A mutation and DCM.
扩张型心肌病（DCM）是一种心肌疾病，其特征为心脏腔室进行性扩大和心肌收缩力受损。这种疾病是需要进行心脏移植的晚期心力衰竭的最常见原因。该疾病在人群中的患病率为每10万人中有36.5例。约20%-30%的病例为家族性。该疾病具有遗传异质性，超过100个基因发生突变时可引发DCM。2004年，SCN5A基因突变在伴有心脏传导缺陷和心律失常的DCM发病中的作用得以显现。在本研究中，我们呈现了一例伴有心律失常且SCN5A基因发生p.E446K突变的扩张型心肌病临床病例。我们在两代人中观察到了伴有轻度左心室肥厚、进行性房室传导阻滞、心房颤动和先天性心脏缺陷（房间隔缺损）的DCM。先天性心脏缺陷与SCN5A突变和DCM未共同分离。
