应用左心室心肌内膜活检诊断线粒体心肌病：病例报告。
Application of left ventricular endomyocardial biopsy in the diagnosis of mitochondrial cardiomyopathy: a case report.
机构信息
Peking University Fifth School of Clinical Medicine, Beijing, China.
Department of Cardiology, Beijing Hospital, National Center of Gerontology; Institute of Geriatric Medicine, Chinese Academy of Medical Sciences, Beijing, P. R. China.
出版信息
BMC Cardiovasc Disord. 2023 Jul 4;23(1):338. doi: 10.1186/s12872-023-03373-x.
BACKGROUND
The clinical features of mitochondrial cardiomyopathy (MCM) are diverse. It can present as hypertrophic cardiomyopathy or dilated cardiomyopathy. The diagnosis of MCM is challenging and usually based on biopsy.
CASE PRESENTATION
The 30-year-old man was admitted to hospital due to dyspnea for 1 month and edema of both lower extremities for 1 week. Echocardiography suggested a whole heart enlargement, a whole heart diminished function. Renal impairment and diabetes were observed. Coronary angiography showed single-vessel disease (90% stenosis in the ostium of a small marginal branch). Left ventricular endomyocardial biopsy was performed.
CONCLUSION
Myocardial histopathology demonstrated a large number of abnormal mitochondrial accumulation, so the diagnosis was considered as mitochondrial cardiomyopathy.
背景
线粒体心肌病（MCM）的临床表现多种多样。它可以表现为肥厚型心肌病或扩张型心肌病。MCM 的诊断具有挑战性，通常基于活检。
病例介绍
这名 30 岁男性因呼吸困难 1 个月，双下肢水肿 1 周入院。超声心动图提示全心扩大，全心收缩功能减退。检查发现肾功能损害和糖尿病。冠状动脉造影显示单支血管病变（小边缘支开口处 90%狭窄）。行左心室心肌内膜活检。
结论
心肌组织病理学显示大量异常线粒体堆积，故诊断为线粒体心肌病。
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