Becker型肌营养不良合并扩张型心肌病的临床特征分析并文献复习

Analysis of clinical characteristics and literature review of Becker muscular dystrophy with dilated cardiomyopathy

目的分析Becker型肌营养不良(BMD)合并扩张型心肌病的临床特点,提高医务工作者对该病的认识。方法收集郑州大学神经内科于2019年10月收治的1例Becker型肌营养不良合并扩张型心肌病患者的临床资料,回顾性分析其临床表现、影像学特征、组织病理学及基因检测结果并进行随访。结果患者临床表现为:四肢无力,肌肉疼痛,活动不耐受等肌病症状及胸闷、心慌、气喘,活动后加重等扩张型心肌病表现。肌肉活检及免疫组化:Dystrophin-N(-),Dystrophin-R(膜+),提示Becker型肌营养不良。基因检查提示:DMD基因第10~18外显子缺失导致的贝氏肌营养不良。结论以肢体无力为首发因素,且肌酶明显升高的男性扩张型心肌病患者,应考虑Becker型肌营养不良的可能。对于BMD导致的扩张型心肌病,ACEI、β-受体阻滞剂治疗有效。

Objective To analyze the clinical features of Becker muscular dystrophy(BMD)with dilated cardiomyopathy,and to raise medical workers’awareness of the disease.Methods Collect the clinical data of a case of Becker muscular dystrophy with dilated cardiomyopathy admitted to the Department of Neurology of Zhengzhou University in October 2019 were and follow up.Analyze the clinical manifestations,imaging features,histopathology and genetic test results retrospectively.Results The patient’s clinical manifestations:muscular symptoms such as weakness of the limbs,muscle pain,intolerance to movement and manifestations of dilated cardiomyopathy of chest tightness,palpitation,wheezing,exacerbation after activity.Muscle biopsy and immunohistochemistry:Dystrophin-N(-),Dystrophin-R(membrane+),suggesting Becker muscular dystrophy.Genetic examination:DMD gene exon 10~18 deletion caused by Becker muscular dystrophy.Conclusion For male patients with dilated cardiomyopathy with limb weakness as the primary factor and significantly increased muscle enzymes,the possibility of Becker muscular dystrophy should be considered.For dilated cardiomyopathy caused by BMD,ACEI andβ-blockers are effective.