Falsaperla R, Romeo G, Mattia C, Pavone P, Quattrocchi S
Department of Pediatrics, University of Catania, Catania, Italy.
Minerva Pediatr. 2005 Oct;57(5):275-9.
Congenital muscular dystrophies (CMD) are a heterogeneous group of diseases characterized by a marked weakness, generalized hypotonia, joint contractures and a muscle biopsy suggestive of dystrophic changes. The aim of this study has been to assess the prevalence of heart involvement in merosin-positive CMD patients examined by echocardiography and Doppler.
A total of 10 merosin-positive CMD patients and 100 healthy children were evaluated by echocardiography and Doppler examinations and the results were compared.
Three out of 10 patients showed a reduction of the ejection fraction and of the shortening fraction; in 1 case, a dilatation of left ventricular diastolic diameter was observed.
In the 10 patients examined by echocardiography and Doppler, a heart involvement has been observed in 25% of cases.
先天性肌营养不良（CMD）是一组异质性疾病，其特征为明显的肌无力、全身性肌张力减退、关节挛缩以及肌肉活检提示营养不良性改变。本研究的目的是通过超声心动图和多普勒检查评估肌膜蛋白阳性CMD患者心脏受累的患病率。
对10例肌膜蛋白阳性CMD患者和100名健康儿童进行超声心动图和多普勒检查评估，并比较结果。
10例患者中有3例射血分数和缩短分数降低；1例观察到左心室舒张直径扩大。
在通过超声心动图和多普勒检查的10例患者中，25%的病例观察到心脏受累。
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