CAJ | 학술논문

目的探讨黏多糖贮积症(MPS)Ⅰ型患者心脏受累的表现.方法纳入2010年1月至2011年12月北京协和医院确诊的10例MPS Ⅰ型患者,分析临床资料、心电图和超声心动图指标.结果 10例患者中男7例,女3例,症状出现时年龄0.5 ～8.0岁,确诊年龄1.8 ～20.0岁.2例患者心脏体检有收缩期杂音；3例心电图异常,表现为右心室肥厚2例,电轴右偏1例.超声心动图结果显示9例有瓣膜增厚和关闭不全；1例有左心房室增大,2例有肺高压和右心室增大,5例有左心室构型异常(包括向心性重构1例,离心性肥厚4例).结论 MPS Ⅰ型患者容易合并心脏受累,主要表现为瓣膜病变、左心室构型异常和肺高压.心脏受累随着年龄增长而加重,需定期密切随诊.
목적 탐토점다당저적증(MPS)Ⅰ형환자심장수루적표현.방법 납입2010년1월지2011년12월북경협화의원학진적10례MPS Ⅰ형환자,분석림상자료、심전도화초성심동도지표.결과 10례환자중남7례,녀3례,증상출현시년령0.5 ～8.0세,학진년령1.8 ～20.0세.2례환자심장체검유수축기잡음；3례심전도이상,표현위우심실비후2례,전축우편1례.초성심동도결과현시9례유판막증후화관폐불전；1례유좌심방실증대,2례유폐고압화우심실증대,5례유좌심실구형이상(포괄향심성중구1례,리심성비후4례).결론 MPS Ⅰ형환자용역합병심장수루,주요표현위판막병변、좌심실구형이상화폐고압.심장수루수착년령증장이가중,수정기밀절수진.
Objective To investigate the manifestations of cardiac involvement in the patients with mucopolysacharidosis Ⅰ (MPS Ⅰ).Methods The clinical data of 10 MPS Ⅰ patients were collected.Electrocardiography (ECG) and echocardiography (Echo) were performed in all patients and then analyzed.Results Among the ten patients,seven were men.The onset age of MPS was (0.5 ～ 8.0) years old and the age of diagnosis was (1.8 ～ 20.0) years old.Two patients had grade 2 precordial systolic murmur.ECG was abnormal in three patients with right ventricular hypertrophy in two and right axis deviation in another one.Echo showed valvular thickening and insufficiency in nine patients,enlarged left atrium and ventricle in one patient,hapulmonary hypertension and right ventricular hypertrophy in two patients and abnormal left ventricular configuration in five patients.Conclusions Cardiac involvement is common in MPS Ⅰ patients and may present as valvular thickening with regurgitation,abnormal left ventricular configuration and pulmonary hypertension.The cardiac involvement progresses with age.ECG and Echo should be done regularly during follow-up of MPS Ⅰ patients.