Cardiac dysfunction in Duchenne muscular dystrophy is less frequent in patients with mutations in the dystrophin Dp116 coding region than in other regions

Background: Duchenne muscular dystrophy (DMD), the most common inherited muscular disease in childhood, is caused by dystrophin deficiency because of mutations in the DMD gene. Although DMD is characterized by fatal progressive muscle wasting, cardiomyopathy is the most important nonmuscle symptom threatening the life of patients with DMD. The relationship between cardiac involvement and dystrophin isoforms has not been analyzed.

Methods and Results: The results of 1109 echocardiograms obtained from 181 Japanese DMD patients with confirmed mutations in the DMD gene were retrospectively analyzed. Patients showed an age-related decline in left ventricular ejection fraction. Patients were divided by patterns of dystrophin isoform deficiency into 5 groups. The cardiac dysfunction-free survival was significantly higher in the group with mutations in the Dp116 coding region than the others, whereas no significant differences in the other 3 groups. At age 25 years, the cardiac dysfunction-f...

背景：杜氏肌营养不良症（Duchenne muscular dystrophy, DMD）是儿童期最常见的遗传性肌肉疾病，由DMD基因发生突变引发抗肌萎缩蛋白（dystrophin）缺乏所致。尽管DMD以致命性进行性肌肉萎缩为特征，但心肌病是威胁DMD患者生命的最主要非肌肉症状。目前尚未有研究针对心脏受累与抗肌萎缩蛋白亚型之间的关联展开分析。

方法与结果：本研究对181例经基因确诊的日本DMD患者的1109次超声心动图检查结果进行了回顾性分析。结果显示，患者的左心室射血分数随年龄增长呈下降趋势。研究人员根据抗肌萎缩蛋白亚型缺失模式将患者分为5组。其中，携带Dp116编码区突变的患者，其无心脏功能障碍生存率显著高于其余各组，而其余3组之间未观察到显著差异。在25岁时，无心脏功能障碍...