线粒体心肌病猝死1例

A case of sudden death from mitochondrial cardiomyopathy

目的报道1例线粒体心肌病(mitochondrial cardiomyopathy,MCM)罕见病例,以提高临床医师对此病诊疗的重视,以免漏诊误诊。方法分析本例患者的临床资料及诊治过程,并复习相关文献进行讨论。结果本例青年女性患者以意识障碍就诊,肌电图、脑电图和脑磁共振成像均为阴性,因左心室肥大和心肌损伤标志物升高,心脏核磁提示心肌损伤,转至心内科以“病毒性心肌炎”治疗,后复查心肌标记物仍未恢复正常,心肌损伤范围增加,至上级医院完善基因检测和心肌活检提示MCM后明确诊断,后因剧烈活动后突发胸闷气短,猝死。结论MCM临床罕见,应熟悉其不典型临床表现及阳性体征,有多系统损害的患者,据临床表现及辅助检查等应考虑到此病的可能,需进一步行基因检测和心肌活检等,以免误诊和漏诊,并应积极随访,避免相关诱因,以提高患者的生存率。

Objective This article reports a rare case of mitochondrial cardiomyopathy(MCM)to enhance the awareness of clinical physicians in the diagnosis and treatment of MCM,thus avoiding missed diagnosis and misdiagnosis.Methods The clinical data and diagnosis and treatment process of this patient were analyzed,and relevant literatures were reviewed for discussion.Results This young female patient was diagnosed with consciousness disorders,and the result for electromyography(EMG),electroencephalography(EEG),and brain magnetic resonance imaging(MRI)were all negative.Due to left ventricular hypertrophy(LVH)and elevated markers of myocardial damage,cardiac MRI revealed myocardial damage.The patient was transferred to the cardiology department for treatment with“viral myocarditis”.However,the myocardial markers did not return to normal and the extent of myocardial damage increased.The diagnosis of MCM was confirmed after completing genetic testing and myocardial biopsy at the higher-level hospital.Due to sudden chest tightness and shortness of breath after intense activity,she died suddenly.Conclusion MCM is rare in clinical practice,and patients who are familiar with its atypical clinical manifestations and positive signs,as well as patients with multiple system damages,should consider the possibility of this disease based on clinical manifestations and auxiliary examinations.It is necessary to undergo walking gene testing and myocardial biopsy to avoid misdiagnosis and missed diagnosis,and actively follow up to avoid related causes to improve patient survival rate.