Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA.
Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA.
复制标题
DOI：
10.1186/s13023-018-0883-6
复制
发表时间：
2018-08-29
影响因子：
3.7
通讯作者：
Lin SP
中科院分区：
文献类型：
--
作者：
Lin HY;Chen MR;Lin SM;Hung CL;Niu DM;Chuang CK;Lin SP
在任何类型的粘多糖病（MPS）患者中都观察到心脏异常，最常见的异常是瓣膜性心脏病和心脏肥大。然而，很少有研究关注MPS IVA的心脏特征。我们回顾了32名台湾MPS IVA患者（男16名，女16名，中位年龄10.8岁，年龄范围1.1 - 29.1岁）的病历、超声心动图和心电图，以及6名接受酶替代治疗（ERT） 3-6年的超声心动图资料。超声心动图检查（n = 32）显示，左室质量指数（LVMI）、室间隔舒张期内径（IVSd）、左室舒张期后壁内径（LVPWd）和主动脉内径的平均z评分分别为0.94、2.70、0.39和3.26。LVMI、IVSd、LVPWd和主动脉直径值的Z评分分别为25%、50%、29%和69%。4例（13%）患者发现舒张功能不全[早、晚期（心房）心室充盈速度（E/A比< 1）的反转比值]，但所有患者的射血分数正常（50-75%）。16例（50%）有瓣膜性心脏病，多数为轻度。14例（44%）有瓣膜狭窄，10例（31%）有反流。LVMI、IVSd、LVPWd、主动脉内径z评分、主动脉狭窄、反流严重程度评分、室间隔是否存在增厚均与年龄的增加呈正相关（p < 0.05）。14例瓣膜增厚患者LVMI、IVSd、主动脉内径z评分均大于18例无瓣膜增厚患者（p < 0.05）。对于两名较年轻（分别为1.4岁和2.8岁）开始ERT的患者，LVMI， IVSd和LVPWd的z评分在ERT后均下降。MPS IVA患者有很大比例的瓣膜性心脏病和心脏肥厚。心脏异常随着年龄的增长而恶化，这与本病的进行性一致。ERT似乎在稳定或减少心脏肥厚方面是有效的，并且较好的结果可能与较年轻时开始ERT有关。本文的在线版本（10.1186/s13023-018-0883-6）包含补充资料，仅供授权用户使用。
Cardiac abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular heart disease and cardiac hypertrophy. However, few studies have focused on the cardiac features of MPS IVA. We reviewed the medical records, echocardiograms, and electrocardiograms of 32 Taiwanese patients with MPS IVA (16 males and 16 females; median age, 10.8 years; age range, 1.1 to 29.1 years) as well as the echocardiographic data of six patients who received enzyme replacement therapy (ERT) for 3–6 years. Echocardiographic examinations (n = 32) revealed mean z scores of left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of 0.94, 2.70, 0.39, and 3.26, respectively. Z scores > 2 were identified in 25%, 50%, 29%, and 69% of the LVMI, IVSd, LVPWd, and aortic diameter values, respectively. Diastolic dysfunction [reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)] was identified in four patients (13%), however, the ejection fraction was normal (50–75%) in all of the patients. Sixteen patients (50%) had valvular heart disease and most were of mild degree. Fourteen (44%) had valvular stenosis, and 10 (31%) had regurgitation. The z scores of LVMI, IVSd, LVPWd, and aortic diameter, the severity scores of aortic stenosis and regurgitation, and the existence of a thickened interventricular septum were all positively correlated with increasing age (p < 0.05). For the 14 patients with valve thickening, the z scores of LVMI, IVSd and aortic diameter were all larger than those of the 18 patients without valve thickening (p < 0.05). For two patients who started ERT at a younger age (1.4 and 2.8 years, respectively), the z scores for LVMI, IVSd, and LVPWd all decreased after ERT. A large proportion of the patients with MPS IVA had valvular heart disease and cardiac hypertrophy. Cardiac abnormalities worsened with increasing age in accordance with the progressive nature of this disease. ERT appeared to be effective in stabilizing or reducing cardiac hypertrophy, and better results may have been associated with starting ERT at a younger age. The online version of this article (10.1186/s13023-018-0883-6) contains supplementary material, which is available to authorized users.
登录
查看更多内容
影响因子：
5.6
作者：
Bolourchi, Meena;Renella, Pierangelo;Wang, Raymond Y.
通讯作者：
Wang, Raymond Y.
影响因子：
4.2
作者：
Braunlin, E.;Rosenfeld, H.;Harmatz, P.
通讯作者：
Harmatz, P.
影响因子：
1.6
作者：
Colón C;Alvarez JV;Castaño C;Gutierrez-Solana LG;Marquez AM;O'Callaghan M;Sánchez-Valverde F;Yeste C;Couce ML
通讯作者：
Couce ML
影响因子：
8
作者：
Giugliani, Roberto;Harmatz, Paul;Wraith, James E.
通讯作者：
Wraith, James E.
影响因子：
3.7
作者：
Chuang CK;Lin HY;Wang TJ;Huang YH;Chan MJ;Liao HC;Lo YT;Wang LY;Tu RY;Fang YY;Chen TL;Ho HC;Chiang CC;Lin SP
通讯作者：
Lin SP