摘要
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.
出处
《心肺血管病杂志》
2017年第4期304-308,313,共6页
Journal of Cardiovascular and Pulmonary Diseases
关键词
心脏症状
猝死
骨骼肌疾病
肌肉活检
病理
Cardiac symptoms
Sudden death
Skeletal muscle diseases
Muscle biopsy
Pathology