Cardiac involvement of the Type Ⅰ mucopolysaccharidosis

VernacularTitle:黏多糖贮积症Ⅰ型的心脏受累表现
Author: Zhuang TIAN ; Lilin GUO ; Yan MENG ; Shuyang ZHANG ; Wenling ZHU
Publication Type:Journal Article
Keywords: Echocardiography; Mucopolysacharidosis Ⅰ; Heart
From: Chinese Journal of Internal Medicine 2013;(3):197-199
CountryChina
Language:Chinese
Abstract: 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.