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首页> 外文期刊>Pediatric Cardiology >A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation
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A Case of Sporadic Infantile Histiocytoid Cardiomyopathy Caused by the A8344G (MERRF) Mitochondrial DNA Mutation

机译：由A8344G（MERRF）线粒体DNA突变引起的偶发性小儿组织细胞样心肌病一例

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摘要

The A8344G mitochondrial DNA (mtDNA) mutation is best known for the MERRF phenotype (myoclonic epilepsy, myopathy, and ragged red fibers). We describe a sporadic case of an infant with the A8344G mtDNA mutation who presented with failure to thrive and sudden unexpected death at 11 months of age. The autopsy revealed a histiocytoid cardiomyopathy, diffuse steatosis of the liver, and bilateral retinal hypoplasia. Electron micrographs of cardiac myocytes showed striking mitochondrial hyperplasia, dispersing the sarcomeres. Special stains of frozen heart muscle showed an absence of complex IV (cytochrome c oxidase) in many of the myocytes. Both complexes I and IV of the respiratory chain were reduced in cardiac muscle. The A8344G mtDNA mutation was detected in both liver and cardiac muscle tissue. To our knowledge, this is the first description of the A8344G mtDNA mutation presenting as a sporadic case of fatal infantile cardiomyopathy and the first occurence of this mutation associated with histiocytoid cardiomyopathy.
机译：A8344G线粒体DNA（mtDNA）突变最出名的是MERRF表型（肌阵挛性癫痫，肌病和衣衫red的红色纤维）。我们描述了一个散发的A8344G mtDNA突变的婴儿病例，该婴儿在11个月大时就无法存活并突然死亡。尸检显示组织细胞样心肌病，肝脏弥漫性脂肪变性和双侧视网膜发育不全。心肌细胞的电子显微照片显示出明显的线粒体增生，分散了肉瘤。冷冻的心肌的特殊染色显示许多心肌细胞中不存在复合物IV（细胞色素C氧化酶）。心肌中呼吸链的复合物I和IV均减少。在肝脏和心肌组织中均检测到A8344G mtDNA突变。就我们所知，这是对A8344G mtDNA突变的首次描述，该突变是致命性婴儿型心肌病的偶发病例，也是该突变与组织细胞样心肌病相关的首次出现。

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