关键词: 线粒体疾病, 线粒体,心脏, 猝死

Abstract:

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.

Key words: mitochondrial disease, mitochondria, heart, sudden death