Rinaldi J P, Artigou J Y, Thomas D, Duboc D, Herrera M, Bournazel V, Komajda M, Chomette G, Grosgogeat Y
Service de cardiologie, hôpital Pitié-Salpêtrière, Paris.
Arch Mal Coeur Vaiss. 1991 Mar;84(3):401-4.
Duchenne muscular dystrophy is the commonest genetic muscular disease. The prognosis, which depends on cardiac involvement, is poor. In boys, this takes the form of a hypokinetic cardiomyopathy particularly affecting the postero-lateral wall of the left ventricle which then dilates. The recent identification of the gene which transmits the disease on the X chromosome and of the coded protein, dystrophin, has improved our understanding of the disease. We report two cases of isolated cardiac involvement in two female carriers of the disease, classically thought to be unaffected. They presented with apparently idiopathic dilated cardiomyopathies. These cases show that Duchenne muscular dystrophy is an original example of a genetically determined diffuse muscular disease with cardiac involvement.
杜兴氏肌营养不良症是最常见的遗传性肌肉疾病。其预后取决于心脏受累情况，预后较差。在男孩中，表现为运动功能减退型心肌病，尤其影响左心室后壁，随后左心室扩张。最近对X染色体上传递该疾病的基因以及编码蛋白抗肌萎缩蛋白的鉴定，增进了我们对该疾病的理解。我们报告了两例该疾病女性携带者出现孤立性心脏受累的病例，传统上认为她们不会受影响。她们表现为明显的特发性扩张型心肌病。这些病例表明，杜兴氏肌营养不良症是一种具有心脏受累的遗传性弥漫性肌肉疾病的典型例子。
