{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,15]],"date-time":"2026-01-15T21:16:57Z","timestamp":1768511817630,"version":"3.49.0"},"reference-count":40,"publisher":"MDPI AG","issue":"1","license":[{"start":{"date-parts":[[2020,12,23]],"date-time":"2020-12-23T00:00:00Z","timestamp":1608681600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"funder":[{"name":"The Ministry of Science and Technology, Executive Yuan, Taiwan","award":["MOST-108-2314-B-195-012, MOST-109-2314-B-195-024, MOST-108-2314-B-195-014, MOST-106-2314-B-195-015-MY2, and MOST-105-2628-B-195-001-MY3"],"award-info":[{"award-number":["MOST-108-2314-B-195-012, MOST-109-2314-B-195-024, MOST-108-2314-B-195-014, MOST-106-2314-B-195-015-MY2, and MOST-105-2628-B-195-001-MY3"]}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Diagnostics"],"abstract":"<jats:p>Background: Cardiovascular abnormalities have been observed in patients with mucopolysaccharidosis (MPS) of any type, with the most documented abnormalities being valvular regurgitation and stenosis and cardiac hypertrophy. Only a few studies have focused on aortic root dilatation and the long-term effects of enzyme replacement therapy (ERT) in these patients. Methods: We reviewed echocardiograms of 125 Taiwanese MPS patients (age range, 0.1 to 19.1 years; 11 with MPS I, 49 with MPS II, 25 with MPS III, 29 with MPS IVA, and 11 with MPS VI). The aortic root diameter was measured at the sinus of Valsalva. Results: Aortic root dilatation (z score &gt;2) was observed in 47% of the MPS patients, including 66% of MPS IV, 51% of MPS II, 45% of MPS VI, 28% of MPS III, and 27% of MPS I patients. The mean aortic root diameter z score was 2.14 (n = 125). The patients with MPS IV had the most severe aortic root dilatation with a mean aortic root diameter z score of 3.03, followed by MPS II (2.12), MPS VI (2.06), MPS III (1.68), and MPS I (1.03). The aortic root diameter z score was positively correlated with increasing age (n = 125, p &lt; 0.01). For the patients with MPS II, III, and IV, aortic root diameter z score was also positively correlated with increasing age (p &lt; 0.01). For 16 patients who had received ERT and had follow-up echocardiographic data (range 2.0\u201316.2 years), the mean aortic root diameter z score change was \u22120.46 compared to baseline (baseline 2.49 versus follow-up 2.03, p = 0.490). Conclusions: Aortic root dilatation was common in the patients with all types of MPS, with the most severe aortic root dilatation observed in those with MPS IV. The severity of aortic root dilatation worsened with increasing age, reinforcing the concept of the progressive nature of this disease. ERT for MPS appears to stabilize the progression of aortic root dilatation.<\/jats:p>","DOI":"10.3390\/diagnostics11010016","type":"journal-article","created":{"date-parts":[[2020,12,24]],"date-time":"2020-12-24T00:53:31Z","timestamp":1608771211000},"page":"16","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Aortic Root Dilatation in Taiwanese Patients with Mucopolysaccharidoses and the Long-Term Effects of Enzyme Replacement Therapy"],"prefix":"10.3390","volume":"11","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-9619-0990","authenticated-orcid":false,"given":"Hsiang-Yu","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Medical Research, China Medical University Hospital, China Medical University, Taichung 40402, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0708-1002","authenticated-orcid":false,"given":"Ming-Ren","family":"Chen","sequence":"additional","affiliation":[{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chung-Lin","family":"Lee","sequence":"additional","affiliation":[{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Hsinchu 30071, Taiwan"},{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 11221, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shan-Miao","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"MacKay Junior College of Medicine, Nursing and Management, Taipei 11260, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2858-3493","authenticated-orcid":false,"given":"Chung-Lieh","family":"Hung","sequence":"additional","affiliation":[{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Division of Cardiology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei 10449, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Dau-Ming","family":"Niu","sequence":"additional","affiliation":[{"name":"Institute of Clinical Medicine, National Yang-Ming University, Taipei 11221, Taiwan"},{"name":"Department of Pediatrics, Taipei Veterans General Hospital, Taipei 11217, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tung-Ming","family":"Chang","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology, Changhua Christian Children\u2019s Hospital, Changhua 500, Taiwan"},{"name":"School of Medicine, Kaohsiung Medical University, Kaohsiung 80708, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9776-2092","authenticated-orcid":false,"given":"Chih-Kuang","family":"Chuang","sequence":"additional","affiliation":[{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"College of Medicine, Fu-Jen Catholic University, Taipei 24205, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shuan-Pei","family":"Lin","sequence":"additional","affiliation":[{"name":"Department of Medicine, MacKay Medical College, New Taipei City 25245, Taiwan"},{"name":"Department of Pediatrics, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Medical Research, MacKay Memorial Hospital, New Taipei City 25160, Taiwan"},{"name":"Department of Rare Disease Center, MacKay Memorial Hospital, Taipei 10449, Taiwan"},{"name":"Department of Infant and Child Care, National Taipei University of Nursing and Health Sciences, Taipei 11219, Taiwan"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,12,23]]},"reference":[{"key":"ref_1","unstructured":"Valle, D., Beaudet, A.L., Vogelstein, B., Kinzler, K.W., Antonarakis, S.E., Ballabio, A., Gibson, K., and Mitchell, G. 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