PDF(Pubmed)
Abstract：
A 56-year-old woman was referred to our hospital for the further evaluation of drug-refractory heart failure with a reduced ejection fraction. A family history interview revealed that men in her family had died of Duchenne muscular dystrophy (DMD), whereas she had no skeletal muscle disorder. Myocardial histopathology revealed a reduced dystrophin expression in the cardiomyocyte membrane, and a dystrophin (DMD) gene analysis identified a duplication in exon 8-9 on Xp21, suggesting that she had a cardiac-specific phenotype of dystrophinopathy, i.e. X-linked dilated cardiomyopathy (XLDCM). In conclusion, careful family history interviews and an investigation of dystrophinopathy are required to detect XLDCM in women.
摘要：
一名56岁的妇女被转诊到我们的医院，以进一步评估射血分数降低的药物难治性心力衰竭。家族病史访谈显示，她家族中的男性死于杜兴氏肌营养不良症（DMD），而她没有骨骼肌疾病。心肌组织病理学显示心肌细胞膜中肌营养不良蛋白表达减少，一项肌营养不良蛋白（DMD）基因分析发现Xp21上外显子8-9的重复，表明她具有肌营养不良蛋白病的心脏特异性表型，即X-连锁扩张型心肌病(XLDCM)。总之,需要仔细的家族史访谈和肌萎缩蛋白病调查才能检测女性的XLDCM.
