{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,11,1]],"date-time":"2025-11-01T13:49:08Z","timestamp":1762004948589,"version":"3.37.3"},"reference-count":34,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T00:00:00Z","timestamp":1507075200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T00:00:00Z","timestamp":1507075200000},"content-version":"unspecified","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0"}],"funder":[{"DOI":"10.13039\/501100000860","name":"European Society of Cardiology","doi-asserted-by":"crossref","award":["Research Grant"],"award-info":[{"award-number":["Research Grant"]}],"id":[{"id":"10.13039\/501100000860","id-type":"DOI","asserted-by":"crossref"}]},{"DOI":"10.13039\/501100000691","name":"Academy of Medical Sciences","doi-asserted-by":"crossref","award":["Starter Grant Scheme for Clinical Lecturers"],"award-info":[{"award-number":["Starter Grant Scheme for Clinical Lecturers"]}],"id":[{"id":"10.13039\/501100000691","id-type":"DOI","asserted-by":"crossref"}]},{"name":"BHF Centre for research excellence"},{"name":"NIHR Oxford BRC Heart theme"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2018,1]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Vascular complications in homocystinuria have been known for many years, but there have been no reports to date on involvement of the ascending aorta.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>We conducted a cross\u2010sectional study of patients with homocystinuria, known to a single metabolic centre, and evaluated in 2016 with a transthoracic echocardiogram. Aortic root dilation was defined as Z\u2010score \u2265 2.0 SD, and graded mild (Z\u2010score 2.0\u20133.0), moderate (Z\u2010score 3.01\u20134.0) and severe (Z\u2010score &gt; 4.0).<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The study population included 34 patients, median age of 44.3 years (IQR 33.3\u201352.2), 50% males, 69% diagnosed aged &lt;18 years and 29% pyridoxine\u2010responsive. Eight (24%) had a history of hypertension. Seven patients (21%) were found to have a dilation of the aortic root, mild in two cases (6%), moderate in four (12%) and severe in one (3%). None had dilation of the ascending aorta. Significant aortic regurgitation, secondary to moderate aortic root dilation, was documented in two patients. A single patient had significant mitral regurgitation due to prolapse of both valve leaflets, as well as mild aortic root dilation. Comparing patients with a dilation of the aortic root to those without, there were no significant clinical, laboratory or echocardiographic differences, with the only exception being that the diameter of the ascending aorta was larger in the group with a dilated aortic root, albeit within normal limits.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>A subset of patients with homocystinuria have isolated dilation of the aortic root similar to that observed in Marfan syndrome.<\/jats:p><\/jats:sec>","DOI":"10.1007\/s10545-017-0094-7","type":"journal-article","created":{"date-parts":[[2017,10,4]],"date-time":"2017-10-04T09:41:50Z","timestamp":1507110110000},"page":"109-115","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Isolated aortic root dilation in homocystinuria"],"prefix":"10.1002","volume":"41","author":[{"given":"Massimiliano","family":"Lorenzini","sequence":"first","affiliation":[{"name":"University College London Institute for Cardiovascular Science and Barts Heart Centre St. Bartholomew's Hospital London UK"},{"name":"Cardiology, Department of Experimental, Diagnostic and Specialty Medicine Alma Mater Studiorum University of Bologna Bologna Italy"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nishan","family":"Guha","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry, John Radcliffe Hospital and Nuffield Division of Clinical Laboratory Sciences University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James E.","family":"Davison","sequence":"additional","affiliation":[{"name":"Metabolic Medicine Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alex","family":"Pitcher","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Radcliffe Department of Medicine University of Oxford Oxford UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Bejal","family":"Pandya","sequence":"additional","affiliation":[{"name":"Adult Congenital Heart Disease Department, Barts Heart Centre St. Bartholomew's Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Helena","family":"Kemp","sequence":"additional","affiliation":[{"name":"Department of Clinical Biochemistry North Bristol NHS Trust Bristol UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Robin","family":"Lachmann","sequence":"additional","affiliation":[{"name":"Charles Dent Metabolic Unit National Hospital for Neurology and Neurosurgery Queen Square London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Perry 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