Ceviz Naci, Alehan Füsun, Alehan Dursun, Ozme Sencan, Akçören Zuhal, Kale Gülsev, Topaloglu Haluk
Cardiology Unit, Department of Pediatrics, Hacettepe University School of Medicine, Ankara, Turkey.
Int J Cardiol. 2003 Feb;87(2-3):129-33; discussion 133-4. doi: 10.1016/s0167-5273(02)00320-0.
Cardiopathy is an expected finding in X-linked Duchenne and Becker muscular dystrophies. This holds true for some other forms such as autosomal recessive limb-girdle dystrophies. However, data on early-onset and usually severe congenital muscular dystrophies are limited. The purpose of this study was to investigate the presence of cardiac involvement in children with merosin-positive congenital muscular dystrophy. A total of 42 patients and 22 healthy subjects were evaluated by M-mode, 2D, and Doppler echocardiography. Cardiac anatomy, left ventricular dimensions, wall thickness and systolic and diastolic functions were investigated in patients and compared with those of healthy control subjects. Mean left ventricular ejection fraction and shortening fraction were significantly lower in the patient group (P<0.05 and P<0.001, respectively) and in three patients ejection fraction was below 55%. Although some impairments in left ventricular inflow indexes which were suggestive of left ventricular diastolic dysfunction were detected in patients with merosin-positive congenital muscular dystrophy they were not statistically significant. Our results suggest that left ventricular systolic abnormalities may occur in children with merosin-positive congenital muscular dystrophy.
心肌病是X连锁杜氏和贝克肌营养不良症的常见表现。其他一些类型的肌营养不良症，如常染色体隐性遗传的肢带型肌营养不良症也是如此。然而，关于早发型且通常较为严重的先天性肌营养不良症的数据有限。本研究的目的是调查肌膜素阳性先天性肌营养不良症患儿是否存在心脏受累情况。通过M型、二维和多普勒超声心动图对42例患者和22名健康受试者进行了评估。对患者的心脏解剖结构、左心室大小、室壁厚度以及收缩和舒张功能进行了研究，并与健康对照受试者进行了比较。患者组的平均左心室射血分数和缩短分数显著更低（分别为P<0.05和P<0.001），且有3例患者的射血分数低于55%。虽然在肌膜素阳性先天性肌营养不良症患者中检测到一些提示左心室舒张功能障碍的左心室流入指标受损，但差异无统计学意义。我们的结果表明，肌膜素阳性先天性肌营养不良症患儿可能会出现左心室收缩异常。
