以心脏症状首发的青年高肌酸肌酶血症临床病理特点分析

Research on ten young myopathy patients' clinical and muscle pathological changes,whose the first symptoms were cardiac involvements

目的:报道10例以心脏症状首发的骨骼肌疾病,讨论该类疾病临床及肌肉病理改变特点。方法:选取2010年1月至2016年5月,以心脏症状首发的骨骼肌疾病就诊的10例患者,总结患者心脏及骨骼肌受累的临床特点,经知情同意后对患者行肌肉活检,标本进行常规组织学、酶学及免疫组织化学染色,7例患者进行基因学检查。结果:10例患者分别诊断为:脂肪沉积症3例,糖原累积病1例,强直性肌营养不良1例,Becker肌营养不良1例,肌原纤维肌病1例,混合结缔组织病合并多发性肌炎1例,Danon病1例,特发性良性肌炎1例。结论:心脏症状及心源性猝死可为骨骼肌病的首发症状或主要症状,尤其是青年不明原因的高CK血症患者。阳性家族史、肌肉病理有空泡和异常物质沉积为猝死的危险因素。

Objective：Report 10 primary myopathy patients with obvious cardiac involvements and dis- cuss the clinical and myopathological features of these patients. Methods： Collect 10 patients from 2010 to 2016 who suffered from heart symptoms, summarize their clinical features especially the heart damage and mus- cle weakness. Muscle biopsy was made after the patients＇ informed consent. In addition of standard histological and enzyme histochemieal staining, immunohistochemieal method was made with first antibodies of mouse anti- human monoelonal antibodies. Seven patients did gene tests. Results ： All of them were diagnosed of myocardi- tis who were truly different skeletal muscle diseases. 3 patients were diagnosed of lipid deposit disorders, 1 was glyeogenesis, 1 was myotonic dystrophy, 1 was Becker muscular dystrophy, 1 was myofibrilliar myopathy, 1 was mixed connective tissue disease with polymyositis, 1 was Danon disease and 1 was acute benign myositis. Conclusion： The manifestations of heart and cardiac sudden death could be the main symptoms of skeletal mus- cle diseases, even could happen firstly, especially for the young patients who suffered from high creatine ki- nase. Positive family history, muscle vacuole and abnormal substances deposit in muscle biopsy were risk fac- tors of sudden death.