Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II
Abstract Background 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) o...
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| Format: | Article |
| Language: | English |
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BMC
2021-02-01
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| Series: | Orphanet Journal of Rare Diseases |
| Subjects: | |
| Online Access: | https://doi.org/10.1186/s13023-021-01743-2 |
| _version_ | 1831646580523925504 |
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| author | Hsiang-Yu Lin Ming-Ren Chen Chung-Lin Lee Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu Tung-Ming Chang Chih-Kuang Chuang Shuan-Pei Lin |
| author_facet | Hsiang-Yu Lin Ming-Ren Chen Chung-Lin Lee Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu Tung-Ming Chang Chih-Kuang Chuang Shuan-Pei Lin |
| author_sort | Hsiang-Yu Lin |
| collection | DOAJ |
| description | Abstract Background 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. Methods 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. Results 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). Conclusions 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. |
| first_indexed | 2024-12-19T13:57:30Z |
| format | Article |
| id | doaj.art-c4c18a996dc746a387503e1600fc2db7 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-19T13:57:30Z |
| publishDate | 2021-02-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-c4c18a996dc746a387503e1600fc2db72022-12-21T20:18:33ZengBMCOrphanet Journal of Rare Diseases1750-11722021-02-0116111410.1186/s13023-021-01743-2Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis IIHsiang-Yu Lin0Ming-Ren Chen1Chung-Lin Lee2Shan-Miao Lin3Chung-Lieh Hung4Dau-Ming Niu5Tung-Ming Chang6Chih-Kuang Chuang7Shuan-Pei Lin8Department of Medicine, MacKay Medical CollegeDepartment of Medicine, MacKay Medical CollegeDepartment of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and ManagementDepartment of Medicine, MacKay Medical CollegeDepartment of Medicine, MacKay Medical CollegeInstitute of Clinical Medicine, National Yang-Ming UniversityDepartment of Pediatric Neurology, Changhua Christian Children’s HospitalDepartment of Medical Research, MacKay Memorial HospitalDepartment of Medicine, MacKay Medical CollegeAbstract Background 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. Methods 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. Results 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). Conclusions 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.https://doi.org/10.1186/s13023-021-01743-2Cardiac hypertrophyEchocardiographyMucopolysaccharidosis IIValvular heart disease |
| spellingShingle | Hsiang-Yu Lin Ming-Ren Chen Chung-Lin Lee Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu Tung-Ming Chang Chih-Kuang Chuang Shuan-Pei Lin Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II Orphanet Journal of Rare Diseases Cardiac hypertrophy Echocardiography Mucopolysaccharidosis II Valvular heart disease |
| title | Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II |
| title_full | Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II |
| title_fullStr | Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II |
| title_full_unstemmed | Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II |
| title_short | Natural progression of cardiac features and long-term effects of enzyme replacement therapy in Taiwanese patients with mucopolysaccharidosis II |
| title_sort | natural progression of cardiac features and long term effects of enzyme replacement therapy in taiwanese patients with mucopolysaccharidosis ii |
| topic | Cardiac hypertrophy Echocardiography Mucopolysaccharidosis II Valvular heart disease |
| url | https://doi.org/10.1186/s13023-021-01743-2 |
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