Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy
Advanced pathological study for definite diagnosis of mitochondrial cardiomyopathy
复制标题
线粒体心肌病明确诊断的高级病理学研究
DOI：
10.1136/jclinpath-2020-206801
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发表时间：
2021-06-01
影响因子：
3.4
通讯作者：
Basgen, John M.
中科院分区：
文献类型：
--
作者：
Takeda, Atsuhito;Murayama, Kei;Basgen, John M.
目的线粒体心肌病（MCM）心血管表型多样，病理检查无诊断标准，诊断困难。我们的目的是增加心肌病理线粒体呼吸链disorders.MethodsQuantitative线粒体的诊断标准，使用电子显微镜和免疫组织病理学分析与呼吸链酶抗体进行了11例肥厚性或限制性心肌病进行内膜心肌活检可能MCM。呼吸链酶测定活检心肌和遗传学研究也进行了所有的主题，以定义MCM。结果4例患者被诊断为MCM根据最近的线粒体呼吸链疾病的标准。使用电子显微镜定量分析，心肌细胞内的线粒体的体积密度显着增加MCM组相比，非MCM组（p=0.007）。免疫组织病理学结果与呼吸链酶测定结果一致。结论电镜定量研究和线粒体呼吸链酶亚单位抗体免疫组织病理学分析可证实MCM的病理诊断。
AimsMitochondrial cardiomyopathy (MCM) is difficult to make a definite diagnosis because of various cardiovascular phenotypes and no diagnostic criteria in the pathology examination. We aim to add myocardial pathology to the diagnostic criteria for mitochondrial respiratory chain disorders.MethodsQuantitative analysis of mitochondria using electron microscopy and immunohistopathological analysis with respiratory chain enzyme antibodies were performed in 11 patients with hypertrophic or restrictive cardiomyopathy who underwent endomyocardial biopsy for possible MCM . Respiratory chain enzymatic assay in biopsied myocardium and genetic studies were also performed in all the subjects to define MCM.ResultsFour patients were diagnosed with MCM according to the recent criteria of mitochondrial respiratory chain disorders. Using electron microscopy with quantitative analysis, the volume density of mitochondria within cardiac muscle cells was significantly increased in the MCM group compared with the non-MCM group (p=0.007). Immunohistopathological results were compatible with the result of the respiratory chain enzymatic assay.ConclusionsPathological diagnosis of MCM could be confirmed by a quantitative study of electron microscopy and immunohistopathological analysis using the mitochondrial respiratory chain enzyme subunit antibody.