黏多糖病Ⅱ型患者的心脏表现  

Cardiac manifestations of the mucopolysaccharidoses typeⅡ

作　　者：郭潇潇[1] 郭立琳[1] 胡立敏 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,100730 [2]河北省高碑店市医院心脏监护病房,074000

出　　处：《疑难病杂志》2011年第8期563-566,共4页Chinese Journal of Difficult and Complicated Cases

摘　　要：目的总结黏多糖病Ⅱ型(MPSⅡ型)患者心脏改变的临床特点。方法收集2000年1月一2011年4月确诊的MPSⅡ型患者14例的临床资料,分析心电图(ECG)和超声心动图检查结果。结果 14例患者均为男性,发病年龄1～8(3.8±2.5)岁,明确诊断并完善心脏检查时年龄(9.3±4.6)岁,心脏查体10例(71.4%)有阳性体征,其中9例可闻及心前区杂音。4例(28.6%)心电图不正常,表现为一度房室传导阻滞、右束支传导阻滞或心室肥厚。行超声心动图检查12例,结果异常11例(91.7%),均表现为瓣膜增厚,其中4例(33.3%)各瓣膜均有增厚,6例(50.0%)为主动脉瓣三个瓣叶及二尖瓣前后叶增厚,1例(8.3%)为先天性主动脉瓣二叶瓣畸形伴瓣叶增厚。2例(16.7%)出现重度肺动脉高压,其中1例伴有中等量心包积液。结论 MPSⅡ型患者多数合并心脏损害,主要表现为瓣膜增厚、粘连及功能异常,少部分出现心肌病变、肺动脉高压、房室传导阻滞等异常,其病程隐匿,需严密随诊。Objective To summarize the cardiac manifestations of patients with the mucopolysaccharidoses（MPS） typeⅡ.Methods The clinical data of 14 MPS typeⅡpatients were collected from January,2000 to April,2011.The electrocardiography （ECG） and echocardiography（Echo） features were analyzed.Results All the patients were male and the onset age was 1～8（3.8±2.5） years old,the diagnostic age was（9.3±4.6） years old.Ten patients（71.4%） had abnormalities in cardiac physical examination,9 with cardiac murmurs.Four patients＇ECG（28.6%） was abnormal which indicated atrioventricular block degreeⅠ,right bundle branch block and ventricular hypertrophy.Echocardiographic evidence of abnormalities were found in 11 cases of the total 12 cases（91.7%）.The most common lesion was valve thickening.Four patients （33.3%）had all four valvular thickness,6 patients（50.0%）had thickening of mitral valve and tricuspid aortic valve,one had thickening of bicuspid aortic valves（8.3%）.Two patients（16.7%） had severe pulmonary hypertension,one of whom with moderate pericardial effusion.Conclusion The MPS typeⅡpatients may present silent cardiac complications such as valvular thickening,adhesion and dysfunction.Some patients may have cardiomyopathy,severe pulmonary hypertension and atrioventri cular condition abnormalities,electrocardiogram and echocardiography should be investigated regularly.

关 键 词：黏多糖病Ⅱ型 瓣膜病变 超声心动图 心电图 

分 类 号：R596.1[医药卫生—内科学]