John R M, Hunter D, Swanton R H
Department of Cardiology, Middlesex Hospital, London.
Arch Dis Child. 1990 Jul;65(7):746-9. doi: 10.1136/adc.65.7.746.
Cardiac involvement is well recognised in most forms of the mucopolysaccharidoses but there is poor documentation of abnormalities specific to Morquio's syndrome (type IV mucopolysaccharidosis). Ten patients with the classic form or type A Morquio's syndrome with a median age of 12.5 years underwent echocardiographic assessment. Abnormalities were detected in six (60%) cases with mitral valve involvement in five patients and aortic valve disease in four. One patient had severe mitral leaflet thickening to the point of mitral stenosis. Two patients had evidence for myocardial involvement by way of echocardiographic ventricular hypertrophy. The cardiac lesions were haemodynamically mild. A cardiac murmur was audible in only three of the six cases. It is concluded that there is a high prevalence of silent cardiac abnormalities in patients with Morquio's syndrome with predominantly left sided valve involvement. Echocardiography should be part of the assessment of these patients and bacterial endocarditis prophylaxis should be advised for those with cardiac abnormalities.
在大多数黏多糖贮积症中，心脏受累已得到充分认识，但关于莫尔基奥综合征（IV型黏多糖贮积症）特有的异常情况的文献记载较少。10例经典型或A型莫尔基奥综合征患者，中位年龄为12.5岁，接受了超声心动图评估。6例（60%）检测到异常，其中5例有二尖瓣受累，4例有主动脉瓣疾病。1例患者二尖瓣叶严重增厚，达到二尖瓣狭窄程度。2例患者有超声心动图显示心室肥厚，提示心肌受累。心脏病变在血流动力学上较轻。6例中只有3例可闻及心脏杂音。结论是，莫尔基奥综合征患者中无症状性心脏异常的发生率较高，主要累及左侧瓣膜。超声心动图应作为这些患者评估的一部分，对于有心脏异常的患者应建议预防细菌性心内膜炎。
