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首页> 外文期刊>Neuromuscular disorders: NMD >Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study.
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Facioscapulohumeral muscular dystrophy presenting with hypertrophic cardiomyopathy: a case study.

机译：伴有肥厚型心肌病的面肩肱型肌营养不良症：一个案例研究。

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摘要

Only three facioscapulohumeral muscular dystrophy (FSHD) patients have been reported to have cardiomyopathy. An asymptomatic 38-year-old man was incidentally found to have electrocardiographic abnormalities. His echocardiogram demonstrated mild dilatation of the left ventricle and poor contractility. Cardiac histopathology indicated hypertrophic cardiomyopathy. Later he developed muscle weakness in the right arm. Scapular winging and asymmetrical facial weakness were evident. Muscle biopsy at the age of 44 years showed myopathic changes consistent with FSHD. His daughter had symptoms of infantile FSHD, which was genetically confirmed. This is the first report of an FSHD patient with biopsy-proven cardiomyopathy.
机译：据报道，只有三位面肩肱肱肌营养不良（FSHD）患者患有心肌病。偶然发现一名无症状的38岁男子有心电图异常。他的超声心动图显示左心室轻度扩张，收缩力差。心脏组织病理学表明肥厚型心肌病。后来他在右臂出现肌肉无力。肩cap翼和不对称的面部无力很明显。 44岁的肌肉活检显示肌病性改变与FSHD一致。他的女儿有婴儿FSHD的症状，这已得到基因证实。这是FSHD患者经活检证实的心肌病的首次报道。

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