Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II

Orphanet Journal of Rare Diseases

Chung-Lin Lee¹  Chih-Kuang Chuang²  Ming-Ren Chen³  Shan-Miao Lin³  Hsiang-Yu Lin⁴  Shuan-Pei Lin⁵  Chung-Lieh Hung⁶  Tung-Ming Chang⁷  Dau-Ming Niu⁸ 

[1] Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan;Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan;Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan;Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, 10449, Taipei, Taiwan;College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan;Department of Medicine, MacKay Medical College, New Taipei City, Taiwan;Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, 10449, Taipei, Taiwan;Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan;Department of Medicine, MacKay Medical College, New Taipei City, Taiwan;Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, 10449, Taipei, Taiwan;Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, 10449, Taipei, Taiwan;Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan;Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan;Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan;Department of Medicine, MacKay Medical College, New Taipei City, Taiwan;Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, 10449, Taipei, Taiwan;Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, 10449, Taipei, Taiwan;Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan;Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan;Department of Medicine, MacKay Medical College, New Taipei City, Taiwan;Division of Cardiology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan;Department of Pediatric Neurology, Changhua Christian Children’s Hospital, Changhua, Taiwan;School of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan;Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan;Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan;

关键词: Cardiac hypertrophy;    Echocardiography;    Mucopolysaccharidosis II;    Valvular heart disease;   

DOI  :  10.1186/s13023-021-01743-2

来源: Springer

【 摘 要 】

BackgroundCardiac 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.MethodsThe 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.ResultsThe 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).ConclusionsHigh 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.

【 授权许可】

CC BY