Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses
Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and ste...
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MDPI AG
2020-01-01
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| Series: | Diagnostics |
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| Online Access: | https://www.mdpi.com/2075-4418/10/2/62 |
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| author | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Lin Lee Ming-Ren Chen Kuo-Tzu Sung Shan-Miao Lin Charles Jia-Yin Hou Dau-Ming Niu Tung-Ming Chang Chung-Lieh Hung Shuan-Pei Lin |
| author_facet | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Lin Lee Ming-Ren Chen Kuo-Tzu Sung Shan-Miao Lin Charles Jia-Yin Hou Dau-Ming Niu Tung-Ming Chang Chung-Lieh Hung Shuan-Pei Lin |
| author_sort | Hsiang-Yu Lin |
| collection | DOAJ |
| description | Background: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1−34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean <i>z</i> scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, <i>z</i> scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS <i>z</i> score was positively correlated with the LVMI <i>z</i> score (<i>p</i> < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The <i>z</i> scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (<i>p</i> < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease. |
| first_indexed | 2024-04-11T18:06:38Z |
| format | Article |
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| issn | 2075-4418 |
| language | English |
| last_indexed | 2024-04-11T18:06:38Z |
| publishDate | 2020-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Diagnostics |
| spelling | doaj.art-a1969d87a267437695f548831544fba02022-12-22T04:10:18ZengMDPI AGDiagnostics2075-44182020-01-011026210.3390/diagnostics10020062diagnostics10020062Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with MucopolysaccharidosesHsiang-Yu Lin0Chih-Kuang Chuang1Chung-Lin Lee2Ming-Ren Chen3Kuo-Tzu Sung4Shan-Miao Lin5Charles Jia-Yin Hou6Dau-Ming Niu7Tung-Ming Chang8Chung-Lieh Hung9Shuan-Pei Lin10Department of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, TaiwanDepartment of Pediatrics, MacKay Memorial Hospital, Hsinchu 30071, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDivision of Cardiology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei 10449, TaiwanInstitute of Clinical Medicine, National Yang-Ming University, Taipei 11221, TaiwanDepartment of Pediatric Neurology, Changhua Christian Children’s Hospital, Changhua 500, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanDepartment of Medicine, MacKay Medical College, New Taipei City 25245, TaiwanBackground: Mucopolysaccharidoses (MPSs) are a group of rare inherited metabolic disorders that can damage various organs, including the heart. Cardiac abnormalities have been observed in patients with all MPS types, with the most documented abnormalities being cardiac valvular regurgitation and stenosis, valvular thickening, and hypertrophic cardiomyopathy. Methods: Cardiac features of 53 Taiwanese patients with MPS (31 men and 22 women; age range 1.1−34.9 years; seven with MPS I, 16 with MPS II, nine with MPS III, 14 with MPS IVA, and seven with MPS VI) were evaluated using two-dimensional speckle-tracking echocardiography and conventional echocardiography. Results: The mean <i>z</i> scores of the global longitudinal strain (GLS), left ventricular mass index (LVMI), interventricular septum diameter in diastole (IVSd), left ventricular posterior wall diameter in diastole (LVPWd), and aortic diameter of the 53 patients with MPS were 1.71, 0.35, 1.66, 1.03, and 3.15, respectively. Furthermore, <i>z</i> scores >2 were identified in 45%, 13%, 40%, 13%, and 70% of the GLS, LVMI, IVSd, LVPWd, and aortic diameter, respectively. The most severe GLS was observed in those with MPS VI, followed by in those with MPS II and MPS I. The GLS <i>z</i> score was positively correlated with the LVMI <i>z</i> score (<i>p</i> < 0.01). Moreover, diastolic dysfunction (reversed ratio between early and late (atrial) ventricular filling velocity (E/A ratio < 1)) was identified in 12 patients (23%). Ejection and shortening fractions were abnormal in four (8%) and seven (13%) patients, respectively. Mitral regurgitation (MR) (92%) was the most common valvular heart disease, followed by aortic regurgitation (AR) (57%), mitral stenosis (MS) (21%), and aortic stenosis (AS) (15%). The <i>z</i> scores of the GLS and LVMI and severity scores of the MS, MR, AS, and AR were all positively correlated with increasing age (<i>p</i> < 0.05). Twenty patients (38%) had a left ventricular remodeling pattern. Conclusions: The most significant left ventricular myocardial deformation, hypertrophy and valvular heart disease were observed in the patients with MPS VI, II, and I, followed by those with MPS IV; in contrast, patients with MPS III had the mildest manifestations. Cardiac abnormalities in patients with MPS worsened with increasing age in accordance with the progressive nature of this disease.https://www.mdpi.com/2075-4418/10/2/62cardiacconventional echocardiographyglobal longitudinal strainmucopolysaccharidosisspeckle-tracking echocardiography |
| spellingShingle | Hsiang-Yu Lin Chih-Kuang Chuang Chung-Lin Lee Ming-Ren Chen Kuo-Tzu Sung Shan-Miao Lin Charles Jia-Yin Hou Dau-Ming Niu Tung-Ming Chang Chung-Lieh Hung Shuan-Pei Lin Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses Diagnostics cardiac conventional echocardiography global longitudinal strain mucopolysaccharidosis speckle-tracking echocardiography |
| title | Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses |
| title_full | Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses |
| title_fullStr | Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses |
| title_full_unstemmed | Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses |
| title_short | Cardiac Evaluation Using Two-Dimensional Speckle-Tracking Echocardiography and Conventional Echocardiography in Taiwanese Patients with Mucopolysaccharidoses |
| title_sort | cardiac evaluation using two dimensional speckle tracking echocardiography and conventional echocardiography in taiwanese patients with mucopolysaccharidoses |
| topic | cardiac conventional echocardiography global longitudinal strain mucopolysaccharidosis speckle-tracking echocardiography |
| url | https://www.mdpi.com/2075-4418/10/2/62 |
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