Finsterer Josef, Stöllberger Claudia, Meng Gerhard
Neurological Department, Krankenanstalt Rudolfstiftung, Vienna, Austria.
Cardiology. 2005;103(2):81-3. doi: 10.1159/000082113. Epub 2004 Nov 12.
Cardiac involvement (CI) in form of myocardial thickening in a patient with genetically confirmed facioscapulohumeral muscular dystrophy (FSHMD) has not been reported. The patient is a 50-year-old male with a tandem repeat size of 17 and 14 kb in the D4Z4 locus on chromosome 4q35. The clinical cardiologic investigation was normal. Blood pressure was 150/90 mm Hg. Funduscopy, 24-hour ambulatory ECG, and 24-hour blood pressure monitoring were normal. ECG showed incomplete right bundle branch block, ST elevation in V2-V4, tall T waves in V3-V5, and hypertrophy signs. Echocardiography revealed left ventricular myocardial thickening of the posterior wall (11.7 mm) and the septum (15.5 mm). In conclusion, CI in genetically confirmed FSHMD may manifest not only as ECG abnormalities but also as left ventricular myocardial thickening.
在基因确诊的面肩肱型肌营养不良（FSHMD）患者中，以心肌增厚形式出现的心脏受累（CI）尚未见报道。该患者为一名50岁男性，4号染色体q35区域D4Z4位点的串联重复序列大小分别为17 kb和14 kb。临床心脏检查正常。血压为150/90 mmHg。眼底检查、24小时动态心电图和24小时血压监测均正常。心电图显示不完全性右束支传导阻滞、V2-V4导联ST段抬高、V3-V5导联T波高尖以及肥厚征象。超声心动图显示左心室后壁（11.7 mm）和室间隔（15.5 mm）心肌增厚。总之，基因确诊的FSHMD中的CI不仅可能表现为心电图异常，还可能表现为左心室心肌增厚。
