Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA
Abstract Background 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. Methods We reviewe...
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| Format: | Article |
| Language: | English |
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BMC
2018-08-01
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| Series: | Orphanet Journal of Rare Diseases |
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| Online Access: | http://link.springer.com/article/10.1186/s13023-018-0883-6 |
| _version_ | 1819076542822612992 |
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| author | Hsiang-Yu Lin Ming-Ren Chen Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu Chih-Kuang Chuang Shuan-Pei Lin |
| author_facet | Hsiang-Yu Lin Ming-Ren Chen Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu 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 (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. Methods 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. Results 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. Conclusions 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. |
| first_indexed | 2024-12-21T18:42:58Z |
| format | Article |
| id | doaj.art-445526c9c912473087a0ccfc43e651a6 |
| institution | Directory Open Access Journal |
| issn | 1750-1172 |
| language | English |
| last_indexed | 2024-12-21T18:42:58Z |
| publishDate | 2018-08-01 |
| publisher | BMC |
| record_format | Article |
| series | Orphanet Journal of Rare Diseases |
| spelling | doaj.art-445526c9c912473087a0ccfc43e651a62022-12-21T18:53:57ZengBMCOrphanet Journal of Rare Diseases1750-11722018-08-0113111110.1186/s13023-018-0883-6Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVAHsiang-Yu Lin0Ming-Ren Chen1Shan-Miao Lin2Chung-Lieh Hung3Dau-Ming Niu4Chih-Kuang Chuang5Shuan-Pei Lin6Department of Medicine, Mackay Medical CollegeDepartment of Medicine, Mackay Medical CollegeDepartment of Medicine, Mackay Medical CollegeDepartment of Medicine, Mackay Medical CollegeDepartment of Pediatrics, Taipei Veterans General HospitalDepartment of Medical Research, Mackay Memorial HospitalDepartment of Medicine, Mackay Medical CollegeAbstract Background 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. Methods 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. Results 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. Conclusions 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.http://link.springer.com/article/10.1186/s13023-018-0883-6CardiacEchocardiographyElectrocardiographyEnzyme replacement therapyMucopolysaccharidosis IVA |
| spellingShingle | Hsiang-Yu Lin Ming-Ren Chen Shan-Miao Lin Chung-Lieh Hung Dau-Ming Niu Chih-Kuang Chuang Shuan-Pei Lin Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA Orphanet Journal of Rare Diseases Cardiac Echocardiography Electrocardiography Enzyme replacement therapy Mucopolysaccharidosis IVA |
| title | Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA |
| title_full | Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA |
| title_fullStr | Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA |
| title_full_unstemmed | Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA |
| title_short | Cardiac features and effects of enzyme replacement therapy in Taiwanese patients with Mucopolysaccharidosis IVA |
| title_sort | cardiac features and effects of enzyme replacement therapy in taiwanese patients with mucopolysaccharidosis iva |
| topic | Cardiac Echocardiography Electrocardiography Enzyme replacement therapy Mucopolysaccharidosis IVA |
| url | http://link.springer.com/article/10.1186/s13023-018-0883-6 |
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