{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,9]],"date-time":"2026-07-09T06:15:05Z","timestamp":1783577705705,"version":"3.55.0"},"reference-count":17,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T00:00:00Z","timestamp":1698883200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2024,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Loeys\u2010Dietz syndrome (LDS) is an autosomal connective tissue disorder commonly presenting with hypertelorism, bifid uvula, aortic aneurysms, and arterial tortuosity. The aim of the present study was to investigate differences in tortuosity index (TI) between genotypes of LDS, possible progression over time and its use as an adjunctive prognostic tool alongside aortic dimensions to aid timely surgical planning in pediatric patients. A retrospective observational study of pediatric LDS patients referred to our center (November 2012\u2013February 2021) was conducted. Using magnetic resonance angiography (MRA) with 3D maximum intensity projection volume\u2010rendered angiogram, arterial TI was measured. Twenty three patients had genetically confirmed LDS with at least one head and neck MRA and 19 had no less than one follow\u2010up MRA available. All patients presented arterial tortuosity. Patients with <jats:italic>TGFBR2<\/jats:italic> variants had greater values of TI compared to patients with <jats:italic>TGFB2<\/jats:italic> variants (<jats:italic>p<\/jats:italic>\u2009=\u20090.041). For patients who did not undergo surgery (<jats:italic>n<\/jats:italic>\u2009=\u200918), z\u2010scores at the level of the sinus of Valsalva showed a significant correlation with vertebral TI (<jats:italic>r<\/jats:italic><jats:sub><jats:italic>s<\/jats:italic><\/jats:sub>\u2009=\u20090.547). There was one death during follow\u2010up. This study demonstrates that patients with LDS and <jats:italic>TGFBR2<\/jats:italic> variants have greater values of TI than patients with <jats:italic>TGFB2<\/jats:italic> variants and that greatest values of TI are associated with increased aortic root z\u2010scores. Furthermore, as TI decreases over time, less frequent neuroimaging follow\u2010up can be considered. Nevertheless, additional studies are needed to better define more accurate risk stratification and long\u2010term surveillance in these patients.<\/jats:p>","DOI":"10.1002\/ajmg.a.63465","type":"journal-article","created":{"date-parts":[[2023,11,2]],"date-time":"2023-11-02T13:13:48Z","timestamp":1698930828000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":2,"title":["Arterial tortuosity in pediatric Loeys\u2010Dietz syndrome patients"],"prefix":"10.1002","volume":"194","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9061-0010","authenticated-orcid":false,"given":"Laia","family":"Brunet\u2010Garcia","sequence":"first","affiliation":[{"name":"Centre for Inherited Cardiovascular Diseases Great Ormond Street Hospital  London UK"},{"name":"Paediatric Cardiology Department, Consorci Sanitari del Maresme Hospital de Matar\u00f3  Barcelona Spain"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pirasuja","family":"Prabaharan","sequence":"additional","affiliation":[{"name":"Centre for Inherited Cardiovascular Diseases Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2315-9925","authenticated-orcid":false,"given":"Luc","family":"Bruyndonckx","sequence":"additional","affiliation":[{"name":"Centre for Inherited Cardiovascular Diseases Great Ormond Street Hospital  London UK"},{"name":"Paediatric Cardiology Department Antwerp University Hospital and Faculty of Medicine and Health Sciences, University of Antwerp  Antwerp Belgium"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ella","family":"Field","sequence":"additional","affiliation":[{"name":"Centre for Inherited Cardiovascular Diseases Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Felice","family":"D'Arco","sequence":"additional","affiliation":[{"name":"Paediatric Radiology Department. Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudio","family":"Capelli","sequence":"additional","affiliation":[{"name":"Paediatric Radiology Department. Great Ormond Street Hospital  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Cervi","sequence":"additional","affiliation":[{"name":"Centre for Inherited Cardiovascular Diseases Great Ormond Street Hospital  London UK"},{"name":"Institute of Cardiovascular Science University College London  London UK"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2023,11,2]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.mri.2012.05.001"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/1532-429X-10-56"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12968-015-0111-7"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.wneu.2018.01.196"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A4718"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11604-010-0420-6"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1511"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa055695"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2019.116633"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2014.11"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1097\/HCO.0000000000000218"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.110.990549"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/humu.23407"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCGEN.117.002033"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.3174\/ajnr.A6732"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.062844"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.cca.2017.03.007"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.63465","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,13]],"date-time":"2024-02-13T09:55:49Z","timestamp":1707818149000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.63465"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,11,2]]},"references-count":17,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2024,3]]}},"alternative-id":["10.1002\/ajmg.a.63465"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.63465","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,11,2]]},"assertion":[{"value":"2023-08-20","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-10-21","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-02","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"e63465"}}