Saraiva Fatima, Rodrigues Dina, Andrade Helena, Negrão Luís, Gonçalves Lino, Marinho António, Providência Luís A
Serviço de Cardiologia, Hospitais da Universidade de Coimbra, Coimbra, Portugal.
Rev Port Cardiol. 2012 Mar;31(3):241-5. doi: 10.1016/j.repc.2012.01.006.
Emery-Dreifuss muscular dystrophy type 1 (EDMD1) is a familial disease with X-Linked recessive transmission, caused by a mutation in a nuclear envelope protein, emerin. Clinical manifestations usually occur in adolescence and include contractures, muscle atrophy and weakness, and cardiac conduction disturbances. We describe the case of a young male, aged 16, with first-degree atrioventricular (AV) block and limited extension of both forearms. He had elevated CK, and cardiac monitoring showed severe conduction tissue disease, with significant sinus pauses, chronotropic incompetence and periods of AV dissociation during exercise. Immunohistochemical staining using an emerin antibody showed absence of the protein in a fragment of muscle tissue and genetic study identified a mutation associated with EDMD1. Study of his brother, aged 21, also established a diagnosis of EDMD1. Both individuals received a permanent pacemaker but musculoskeletal manifestations at that time did not warrant any other intervention: Screening for certain genetic diseases, including muscular dystrophies, is mandatory following identification of conduction abnormalities in young people.
1型埃默里-德赖富斯肌营养不良症（EDMD1）是一种X连锁隐性遗传的家族性疾病，由核包膜蛋白emerin的突变引起。临床表现通常在青春期出现，包括挛缩、肌肉萎缩和无力，以及心脏传导障碍。我们描述了一名16岁年轻男性的病例，他患有一度房室（AV）传导阻滞且双侧前臂伸展受限。他的肌酸激酶（CK）升高，心脏监测显示严重的传导组织疾病，运动期间有明显的窦性停搏、变时性功能不全和房室分离期。使用emerin抗体进行免疫组织化学染色显示肌肉组织片段中该蛋白缺失，基因研究确定了一个与EDMD1相关的突变。对他21岁哥哥的研究也确诊为EDMD1。两人均接受了永久性起搏器植入，但当时的肌肉骨骼表现无需其他干预：在年轻人中发现传导异常后，对包括肌营养不良症在内的某些遗传疾病进行筛查是必要的。
