马罗-拉米综合征中的二尖瓣狭窄：一种可治疗的呼吸困难病因。
Mitral stenosis in the Maroteaux-Lamy syndrome: a treatable cause of dyspnoea.
作者信息
Marwick T H, Bastian B, Hughes C F, Bailey B P
机构信息
Hallstrom Institute of Cardiology, Royal Prince Alfred Hospital, Camperdown, Sydney, Australia.
出版信息
Postgrad Med J. 1992 Apr;68(798):287-8. doi: 10.1136/pgmj.68.798.287.
Abstract
The case is reported of a young woman with the Maroteaux-Lamy syndrome (mucopolysaccharidosis type VI) who presented with rapidly progressive dyspnoea due to mitral stenosis. Mitral valve replacement was performed and the appearance of the valve was typical of mucopolysaccharide infiltration. Dyspnoea in patients with the Maroteaux-Lamy syndrome may be due primarily to cardiac valve involvement, and in this setting, valve surgery is safe and effective.
摘要
报告了一例患有马罗托-拉米综合征（黏多糖贮积症VI型）的年轻女性病例，该患者因二尖瓣狭窄出现快速进展性呼吸困难。进行了二尖瓣置换术，瓣膜外观具有黏多糖浸润的典型特征。马罗托-拉米综合征患者的呼吸困难可能主要归因于心脏瓣膜受累，在此情况下，瓣膜手术是安全有效的。
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本文引用的文献
1
The pathology and biochemistry of gargoylism; a report of three cases with a review of the literature.黏多糖贮积症Ⅰ型的病理学与生物化学；三例报告并文献复习
Arch Dis Child. 1952 Jun;27(133):230-53. doi: 10.1136/adc.27.133.230.
2
Gargoylism with cardiovascular involvement in two brothers.两兄弟患黏多糖贮积症Ⅱ型伴心血管受累
Br Heart J. 1954 Oct;16(4):417-22. doi: 10.1136/hrt.16.4.417.
3
Mucopolysaccharidosis type IV as a cause of mitral stenosis in an adult.成人黏多糖贮积症IV型作为二尖瓣狭窄的病因
Br Heart J. 1981 Jul;46(1):113-5. doi: 10.1136/hrt.46.1.113.
4
Type 3 mucopolysaccharidosis: report of a case with severe mitral valve involvement.
J Pediatr. 1973 Jan;82(1):101-4. doi: 10.1016/s0022-3476(73)80023-x.
5
Mucopolysaccharidosis, an unusual cause of cardiac valvular disease.
Am J Cardiol. 1968 Jul;22(1):133-6. doi: 10.1016/0002-9149(68)90256-7.
6
Cardiac manifestations of the mucopolysaccharidoses.黏多糖贮积症的心脏表现
Circulation. 1975 Oct;52(4):700-5. doi: 10.1161/01.cir.52.4.700.
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