Jacquet C, Brembilla-Perrot B, Marc Sellal J-M, Mohamed S, Terrier de la Chaise A, Kaminsky P
Service de médecine interne-maladies orphelines et systémiques, pôle des spécialités médicales, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
Département de cardiologie, pôle de médecine cardiovasculaire et réanimation médicale, hôpitaux de Brabois, CHU de Nancy, 54511 Vandœuvre cedex, France.
Rev Med Interne. 2014 Sep;35(9):617-20. doi: 10.1016/j.revmed.2014.05.007. Epub 2014 Jun 3.
Arrhythmic disorders are infrequent in young adult and should evoke myopathy associated cardiomyopathy, even though muscular symptoms are moderate or absent.
We report a 25-year-old woman who developed severe supraventricular rhythm disturbances with exercise intolerance and elevated serum creatine kinase level. Initially the echocardiography showed normal ventricular function. Mutation in the lamin gene (LMNA) was identified. During the disease course, arrhythmia and ventricular function worsened and required cardioverter defibrillator implantation.
Laminopathies are genetic disorders among which dilated cardiomyopathy associated with skeletal muscular involvement is the most frequent phenotype, usually like Emery-Dreifuss muscular dystrophy. Other phenotypes are progeria, lipodystrophic syndromes and peripheral neuropathy. Cardiac involvement is responsible for syncope, thromboembolic events and sudden death and often requires early cardioverter defibrillator implantation.
心律失常在年轻成年人中并不常见，即使肌肉症状较轻或无肌肉症状，也应考虑与肌病相关的心肌病。
我们报告一名25岁女性，她出现严重的室上性心律失常，伴有运动不耐受和血清肌酸激酶水平升高。最初，超声心动图显示心室功能正常。发现了核纤层蛋白基因（LMNA）突变。在疾病过程中，心律失常和心室功能恶化，需要植入心脏复律除颤器。
核纤层蛋白病是遗传性疾病，其中与骨骼肌受累相关的扩张型心肌病是最常见的表型，通常类似于Emery-Dreifuss肌营养不良症。其他表型包括早衰症、脂肪营养不良综合征和周围神经病变。心脏受累可导致晕厥、血栓栓塞事件和猝死，通常需要早期植入心脏复律除颤器。
