Kraiem S, Lahidheb D, Chehaibi N, Sfaxi A, Terras M, Ben Ameur Y, Slimane M L
Service de cardiologie, hôpital Habib Thameur, 8, av. Ali Ben Ayed, Monfleury, Tunis 1008, Tunisie.
Arch Mal Coeur Vaiss. 2001 Feb;94(2):153-6.
Valvular disease in mucopolysaccharidosis type I-Hurler (MPS/1H) is relatively common, but mitral stenosis is very rare in this genetic abnormality. The authors describe the case of a 16-year old girl with Hurler's syndrome diagnosed at 4 years of age. The morphological features were characteristic: bridged nose, thickened lips, macroglassia, short neck (gargoylism, short, thick fingers and limitation of brachial and fore-arm flexion. She presented with stage II dyspnoea and paroxysmal nocturnal dyspnoea. Radiological and echocardiographic studies revealed severe mitral stenosis with haemodynamic complications requiring mitral valve replacement. Anatomopathological analysis of the mitral valve confirmed mucopolysaccharide deposits as the cause of this particular case of mitral stenosis.
I型Hurler综合征（MPS/1H）中的瓣膜疾病相对常见，但在这种基因异常中二尖瓣狭窄非常罕见。作者描述了一名16岁女孩的病例，该女孩4岁时被诊断为Hurler综合征。其形态特征具有特异性：鼻梁塌陷、嘴唇增厚、巨舌、短颈（丑角样面容）、手指短粗以及肱部和前臂屈曲受限。她表现为II级呼吸困难和阵发性夜间呼吸困难。放射学和超声心动图研究显示严重二尖瓣狭窄并伴有血流动力学并发症，需要进行二尖瓣置换。二尖瓣的解剖病理学分析证实黏多糖沉积是导致该例二尖瓣狭窄的原因。
