Chinese Journal of Contemporary Neurology and Neurosurgery ›› 2015, Vol. 15 ›› Issue (6): 453-457. doi: 10.3969/j.issn.1672-6731.2015.06.007

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Correlation analysis between cardiac damage and genotype in Duchenne muscular dystrophy

ZHANG Yao1, ZHANG Cheng1, TANG Ying2, YAO Feng-juan3, SUN Yi-ming4, WANG You-ming5, WANG Jing5, WANG Yin-long5, YUAN Chang-ming5   

  1. 1Department of Neurology, 3Department of Ultrasound, 4Department of Health, the First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510080, Guangdong, China
    2Department of Neurology, the First Affiliated Hospital of Harbin Medical University, Harbin 150001, Heilongjiang, China
    5Department of Neurology, Affiliated Hospital of Hebei University of Engineering, Handan 056002, Hebei, China
  • Online:2015-06-25 Published:2015-07-05
  • Contact: ZHANG Cheng (Email: zhangch6@mail.sysu.edu.cn)
  • Supported by:

    This study was supported by Joint Fund of National Natural Science Foundation of China and Natural Science Foundation of Guangdong Province of China (No. U1032004), National Natural Science Foundation of China (No. 81471280, 81271401), Supporting Program for Science and Technology Research of China (No. 2012BAI09B04) and Science and Technology Plan Project of Guangdong Province (No. 2011A030400006).

Duchenne型肌营养不良症心脏损害与基因型相关分析

张瑶, 张成, 汤颖, 姚凤娟, 孙毅明, 王友明, 王静, 王银龙, 袁长明   

  1. 510080 广州,中山大学附属第一医院神经科[张瑶(现在河北工程大学附属医院神经内科,邮政编码:056002)、张成],超声波科(姚凤娟),保健科(孙毅明);150001 哈尔滨医科大学附属第一医院神经内科(汤颖);056002 邯郸,河北工程大学附属医院神经内科(王友明,王静,王银龙,袁长明)
  • 通讯作者: 张成(Email:zhangch6@mail.sysu.edu.cn)
  • 基金资助:

    国家自然科学基金-广东省联合基金重点资助项目(项目编号:U1032004);国家自然科学基金资助项目(项目编号:81471280);国家自然科学基金资助项目(项目编号:81271401);国家科技支撑计划项目(项目编号:2012BAI09B04);广东省科技计划项目(项目编号:2011A030400006)

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

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