摘要：

目的 探讨Duchenne型肌营养不良症患者心脏损害演变规律。方法 回顾分析144 例经基因检测明确诊断的Duchenne型肌营养不良症患者的临床资料，根据超声心动图分为Duchenne型肌营养不良症伴心脏损害组（50 例）和不伴心脏损害组（94 例），分析基因型与心脏损害的相关性。结果 与无心脏损害组相比，心脏损害组患者心房和心室各腔均扩大（P < 0.01），左心室后壁和室间隔增厚（P = 0.031，0.001），左心室射血分数降低（P = 0.034）；DMD基因第3（P = 0.047）、4（P = 0.047）、21（P = 0.047）、22（P = 0.040）和53（P = 0.033）号外显子突变率增加，提示上述外显子突变与心脏损害相关。结论 Duchenne 型肌营养不良症患者心脏损害呈现扩张型心肌病表现，突变外显子越靠近5’端，心脏损害程度越严重。

关键词: 肌营养不良, 杜氏, 心脏病, 突变

Abstract:

Objective  To explore the evolution of Duchenne muscular dystrophy (DMD) patients with cardiac damage.  Methods  Clinical data of 144 DMD patients who were clearly diagnosed by gene detection were collected and analyzed. According to the results of ultrasonic cardiography, they were divided into cardiac involvement group (N = 50) and non-involvement group (N = 94). The correlation between genotypes and cardiac damage was analyzed.  Results  Compared with non-involvement group, cardiac involvement group had larger atrium and ventricle (P < 0.01), thicker posterior wall of left ventricle and interventricular septum (P = 0.031, 0.001), as well as lower left ventricular ejection fraction (P = 0.034). In addition, the mutation rates of DMD gene in exon 3 (P = 0.047), exon 4 (P = 0.047), exon 21 (P = 0.047), exon 22 (P = 0.040) and exon 53 (P = 0.033) were increased significantly, indicating that mutations had a correlation with cardiac damage.  Conclusions  The main performance of DMD cardiac damage is dilated cardiomyopathy. It has more possibility to cause cardiac damage when DMD gene mutation is closer to the end of 5'-terminal.

Key words: Muscular dystrophy, Duchenne, Heart diseases, Mutation