粘多糖病Ⅳa型的心脏受累表现  

Cardiac abnormality in patients with mucopolysaccharidoses type Ⅳa

作　　者：郭立琳[1] 田庄[1] 朱文玲[1] 

机构地区：[1]中国医学科学院北京协和医学院北京协和医院心内科,北京100730

出　　处：《临床心血管病杂志》2013年第12期941-944,共4页Journal of Clinical Cardiology

摘　　要：目的:总结粘多糖病(MPS)Ⅳa型患者心脏受累的表现。方法:纳入2010-01-2012-12我院经酶学确诊的粘多糖病(MPS)Ⅳa型患者15例,收集临床资料并对其进行心电图和超声心动图检查。结果:15例患者均无明显的心脏相关症状;2例体检发现有心前区2/6级收缩期杂音;3例心电图不正常,分别表现为胸前导联T波倒置1例,左前分支阻滞1例和短PR间期1例。超声心动图检查显示9例存在瓣膜结构异常,其中4例合并轻度瓣膜关闭不全,5例有心室构型异常(分别为向心性肥厚1例,离心性肥厚3例,向心性重构1例)。结论:MPSⅣa型患者容易心脏受累,其中瓣膜结构和功能异常比较多见,其次为心室构型异常。患者通常并无心脏相关症状,因此需要定期复查,密切随诊。Objective： To discuss the abnormai cardiac manifestations in patients with mucopolysacharidosis （MPS） Ⅳ a. Method：The clinical data of 15 patients with MPS Ⅳ a diagnosed by enzyme tests were collected from January 2010 to December 2012. Electrocardiography and echocardiography were done in all patients. Result： All patients did not have obvious cardiac symptoms. Two patients had 2/6 precordial systolic murmur. Electrocardiography was abnormal in three patients, one was inversion of precordial T waves, one was left anterior hemibloek, and one was short PR interval. Echocardiograph showed nine patients had valvular thickening and four among of them had valvular insufficiency. Abnormal left ventricular configuration was found in five patients （one was concentric hypertrophy, three were eccentric hypertrophy, and one was concentric configuration）. Conclusion： Cardiac involvement is common in MPS IV a patients and valvular thickening with regurgitation is the most common abnormality. However, the patients are 0syrnptomatic. Follow-up with electrocardiogram and echocardiography should he implemented regularly.

关 键 词：粘多糖病 心脏 超声心动图 

分 类 号：R589.9[医药卫生—内分泌]