Hsiang-Yu Lin1,2,3,4,5,6, Ming-Ren Chen1,2,4, Chung-Lin Lee4,7,8, Shan-Miao Lin1,2,4, Chung-Lieh Hung1,9, Dau-Ming Niu8,10, Tung-Ming Chang11,12, Chih-Kuang Chuang13,14, Shuan-Pei Lin15,16,17,18,19. 1. Department of Medicine, MacKay Medical College, New Taipei City, Taiwan. 2. Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan. 3. Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. 4. Department of Childhood Care and Education, MacKay Junior College of Medicine, Nursing and Management, Taipei, Taiwan. 5. Department of Medical Research, China Medical University Hospital, China Medical University, Taichung, Taiwan. 6. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan. 7. Department of Pediatrics, MacKay Memorial Hospital, Hsinchu, Taiwan. 8. Institute of Clinical Medicine, National Yang-Ming University, Taipei, Taiwan. 9. Division of Cardiology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei, Taiwan. 10. Department of Pediatrics, Taipei Veterans General Hospital, Taipei, Taiwan. 11. Department of Pediatric Neurology, Changhua Christian Children's Hospital, Changhua, Taiwan. 12. School of Medicine, Kaohsiung Medical University, Kaohsiung, Taiwan. 13. Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. mmhcck@gmail.com. 14. College of Medicine, Fu-Jen Catholic University, Taipei, Taiwan. mmhcck@gmail.com. 15. Department of Medicine, MacKay Medical College, New Taipei City, Taiwan. linhy@mmh.org.tw. 16. Department of Pediatrics, MacKay Memorial Hospital, No.92, Sec. 2, Chung-Shan North Road, Taipei, 10449, Taiwan. linhy@mmh.org.tw. 17. Department of Medical Research, MacKay Memorial Hospital, 92 Chung-Shan N. Rd., Sec. 2, Taipei, 10449, Taiwan. linhy@mmh.org.tw. 18. Department of Rare Disease Center, MacKay Memorial Hospital, Taipei, Taiwan. linhy@mmh.org.tw. 19. Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei, Taiwan. linhy@mmh.org.tw.
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.
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 IIpatients 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.
Authors: Helmut Baumgartner; Judy Hung; Javier Bermejo; John B Chambers; Arturo Evangelista; Brian P Griffin; Bernard Iung; Catherine M Otto; Patricia A Pellikka; Miguel Quiñones Journal: J Am Soc Echocardiogr Date: 2009-01 Impact factor: 5.251
Authors: Eigir Einarsen; Dana Cramariuc; Mai T Lønnebakken; Kurt Boman; Christa Gohlke-Bärwolf; John B Chambers; Eva Gerdts Journal: Am J Cardiol Date: 2017-01-06 Impact factor: 2.778
Authors: Maurizio Scarpa; Zsuzsanna Almássy; Michael Beck; Olaf Bodamer; Iain A Bruce; Linda De Meirleir; Nathalie Guffon; Encarna Guillén-Navarro; Pauline Hensman; Simon Jones; Wolfgang Kamin; Christoph Kampmann; Christina Lampe; Christine A Lavery; Elisa Leão Teles; Bianca Link; Allan M Lund; Gunilla Malm; Susanne Pitz; Michael Rothera; Catherine Stewart; Anna Tylki-Szymańska; Ans van der Ploeg; Robert Walker; Jiri Zeman; James E Wraith Journal: Orphanet J Rare Dis Date: 2011-11-07 Impact factor: 4.123
Authors: Benjamin Cross; Karolina M Stepien; Chaitanya Gadepalli; Ahmed Kharabish; Peter Woolfson; Govind Tol; Petra Jenkins Journal: Front Cardiovasc Med Date: 2022-04-04