Tsuji Masahiro, Kinoshita Makoto, Imai Yukihiro, Kawamoto Michi, Kohara Nobuo
Department of Pediatrics, Kobe City, Medical Center, General Hospital, 6-4 Nakamachi, Minatojima, Chuo-ku, Kobe 650-0046, Japan.
Neuromuscul Disord. 2009 Feb;19(2):140-2. doi: 10.1016/j.nmd.2008.11.011. Epub 2009 Jan 14.
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.
据报道，仅有3例面肩肱型肌营养不良（FSHD）患者患有心肌病。一名38岁无症状男性偶然发现有心电图异常。他的超声心动图显示左心室轻度扩张且收缩力差。心脏组织病理学显示为肥厚型心肌病。后来他出现右臂肌肉无力。肩胛翼状畸形和不对称性面部肌无力明显。44岁时的肌肉活检显示有与FSHD一致的肌病改变。他的女儿有婴儿型FSHD症状，经基因检测得以证实。这是首例经活检证实患有心肌病的FSHD患者报告。
