Department of Medicine, MacKay Medical College, New Taipei City, Taiwan.
Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan.
Orphanet J Rare Dis. 2021 Feb 23;16(1):99. doi: 10.1186/s13023-021-01743-2.
Cardiac abnormalities have been observed in patients with mucopolysaccharidosis type II (MPS II). The aim of this study was to investigate the cardiac features and natural progression of Taiwanese patients with MPS II, and evaluate the impact of enzyme replacement therapy (ERT) on cardiac structure and function.
The medical records and echocardiograms of 48 Taiwanese patients with MPS II (median age, 6.9 years; age range, 0.1-27.9 years) were reviewed. The relationships between age and each echocardiographic parameter were analyzed.
The 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 were 1.10, 2.70, 0.95 and 1.91, respectively. Z scores > 2 were identified in 33%, 54%, 13%, and 46% for LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most prevalent cardiac valve abnormality was mitral regurgitation (MR) (56%), followed by aortic regurgitation (AR) (33%). The severity of mitral stenosis (MS), MR, aortic stenosis (AS), AR, and the existence of valvular heart disease were all positively correlated with increasing age (p < 0.01). We also compared the echocardiographic parameters between two groups: (1) 12 patients who had up to 17 years of follow-up echocardiographic data without ERT, and (2) nine patients who had up to 12 years of follow-up data with ERT. The results showed that z-score changes of LVMI significantly improved in the patients who received ERT compared to those who did not receive ERT (0.05 versus 1.52, p < 0.05). However, the severity score changes of MS, MR, AS, and AR all showed gradual progression in both groups (p > 0.05).
High prevalence rates of valvular heart disease and cardiac hypertrophy were observed in the MPS II patients in this study. The existence and severity of cardiac hypertrophy and valvular heart disease in these patients worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS II appeared to be effective in stabilizing or reducing the progression of cardiac hypertrophy, but it only had a limited effect on valvulopathy.
黏多糖贮积症 II 型（MPS II）患者存在心脏异常。本研究旨在探究台湾 MPS II 患者的心脏特征和自然病程，并评估酶替代疗法（ERT）对心脏结构和功能的影响。
回顾性分析 48 例 MPS II 患者（中位年龄 6.9 岁；年龄范围 0.1-27.9 岁）的病历资料和超声心动图结果。分析年龄与每项超声心动图参数之间的关系。
左心室质量指数（LVMI）、舒张期室间隔厚度（IVSd）、舒张期左心室后壁厚度（LVPWd）和主动脉直径的平均 z 评分分别为 1.10、2.70、0.95 和 1.91。LVMI、IVSd、LVPWd 和主动脉直径的 z 评分>2 的患者比例分别为 33%、54%、13%和 46%。最常见的心脏瓣膜异常为二尖瓣反流（MR）（56%），其次为主动脉瓣反流（AR）（33%）。二尖瓣狭窄（MS）、MR、主动脉瓣狭窄（AS）、AR 严重程度和瓣膜性心脏病的存在均与年龄增长呈正相关（p<0.01）。我们还比较了两组患者的超声心动图参数：（1）12 例患者接受了长达 17 年的超声心动图随访但未接受 ERT，（2）9 例患者接受了长达 12 年的超声心动图随访并接受了 ERT。结果显示，与未接受 ERT 的患者相比，接受 ERT 的患者的 LVMI 的 z 评分变化显著改善（0.05 对 1.52，p<0.05）。然而，两组患者的 MS、MR、AS 和 AR 的严重程度评分变化均呈逐渐进展趋势（p>0.05）。
本研究中 MPS II 患者存在高比例的瓣膜性心脏病和心脏肥厚。这些患者的心脏肥厚和瓣膜性心脏病的存在和严重程度随年龄增长而恶化，强化了该疾病进展性的概念。ERT 对 MPS II 似乎有效稳定或减缓心脏肥厚的进展，但对瓣膜病的影响有限。
