{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T05:18:19Z","timestamp":1788239899496,"version":"build-2803163510"},"reference-count":17,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T00:00:00Z","timestamp":1788134400000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["American J of Med Genetics Pt A"],"abstract":"ABSTRACT<\/jats:title>\n \n Turner syndrome (\n TS<\/jats:styled-content>\n ) is associated with thoracic aortopathy and increased risk for aortic dissection, yet the natural history of aortic dilation is not well understood. We performed a retrospective longitudinal study of individuals with\n TS<\/jats:styled-content>\n who participated in the\n TS<\/jats:styled-content>\n Society of the United States Healthy Heart Project between 2003 and 2023. Participants were selected in descending rank order of aortic size index (\n ASI<\/jats:styled-content>\n , >\u200918) or\n TS<\/jats:styled-content>\n \u2010specific\n Z<\/jats:italic>\n \u2010score (<\u200918) to generate a cohort intentionally enriched for the largest unoperated aortic diameters. Serial echocardiograms were re\u2010measured using standardized techniques. Patient\u2010specific growth rates were estimated using a pooled mixed\u2010effects best\u2010model framework and compared with the entire\n HHP<\/jats:styled-content>\n longitudinal dataset to evaluate trajectories across risk strata. The primary endpoint was a composite of all\u2010cause death, aortic surgery, or aortic dissection. Twenty\u2010nine individuals (20 adults, 9 pediatric) were followed for a median of 13\u2009years. Longitudinal aortic growth was generally slow (\u2264\u20090.018\u2009cm\/year), with three rapid and seven mild progressors. No aortic dissections were observed. Clinical events were driven by elective aortic surgery and death. Height\u2010indexed aortic diameter (aortic height index,\n AHI<\/jats:styled-content>\n ) demonstrated the strongest association with the composite endpoint, outperforming\n ASI<\/jats:styled-content>\n and\n TS<\/jats:styled-content>\n \u2010specific\n Z<\/jats:italic>\n \u2010scores. In a\n TS<\/jats:styled-content>\n cohort enriched for the largest unoperated aortas, baseline aortic size and clinical risk factors rather than growth rate primarily determined clinical outcomes. These findings support an integrated framework for aortic risk assessment in\n TS<\/jats:styled-content>\n .\n <\/jats:p>","DOI":"10.1002\/ajmg.a.70290","type":"journal-article","created":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:49:28Z","timestamp":1788238168000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Longitudinal Echocardiographic Surveillance of Aortic Dilation in a Phenotype\u2010Enriched Turner Syndrome Cohort"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0009-0006-8907-3688","authenticated-orcid":false,"given":"Dylan","family":"Doerner","sequence":"first","affiliation":[{"name":"John P. and Kathrine G. McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Matthew R.","family":"Johnson","sequence":"additional","affiliation":[{"name":"John P. and Kathrine G. McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sara","family":"Mansoorshahi","sequence":"additional","affiliation":[{"name":"John P. and Kathrine G. McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-4417-7157","authenticated-orcid":false,"given":"Rakesh","family":"Kathiresan","sequence":"additional","affiliation":[{"name":"John P. and Kathrine G. McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1626-9819","authenticated-orcid":false,"given":"Katelyn","family":"Abel","sequence":"additional","affiliation":[{"name":"John P. and Kathrine G. McGovern Medical School University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonathan G.","family":"You","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5405-6136","authenticated-orcid":false,"given":"Emilio","family":"Quezada","sequence":"additional","affiliation":[{"name":"Department of Pediatrics University of California San Francisco San Francisco California USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6341-9624","authenticated-orcid":false,"given":"Siddharth K.","family":"Prakash","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine University of Texas Health Science Center at Houston Houston Texas USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,8,31]]},"reference":[{"key":"e_1_2_11_2_1","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCULATIONAHA.111.088633"},{"key":"e_1_2_11_3_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38596"},{"key":"e_1_2_11_4_1","doi-asserted-by":"publisher","DOI":"10.1530\/EJE\u201020\u20100284"},{"key":"e_1_2_11_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl\u20102018\u2010313716"},{"key":"e_1_2_11_6_1","doi-asserted-by":"publisher","DOI":"10.1017\/S1047951116000628"},{"key":"e_1_2_11_7_1","doi-asserted-by":"publisher","DOI":"10.1093\/ejendo\/lvae050"},{"key":"e_1_2_11_8_1","doi-asserted-by":"publisher","DOI":"10.1111\/echo.14167"},{"key":"e_1_2_11_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.hlc.2020.10.005"},{"key":"e_1_2_11_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.echo.2010.03.019"},{"key":"e_1_2_11_11_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl\u20102022\u2010320922"},{"key":"e_1_2_11_12_1","doi-asserted-by":"publisher","DOI":"10.1186\/1532\u2010429X\u201013\u201024"},{"key":"e_1_2_11_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/ehjci\/jez174"},{"key":"e_1_2_11_14_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.37208"},{"key":"e_1_2_11_15_1","doi-asserted-by":"publisher","DOI":"10.1136\/heartjnl\u20102022\u2010320922"},{"key":"e_1_2_11_16_1","doi-asserted-by":"publisher","DOI":"10.1161\/HCG.0000000000000048"},{"key":"e_1_2_11_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2024.132451"},{"key":"e_1_2_11_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijcard.2022.11.023"}],"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.70290","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/ajmg.a.70290","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.70290","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,1]],"date-time":"2026-09-01T04:49:31Z","timestamp":1788238171000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.70290"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,8,31]]},"references-count":17,"alternative-id":["10.1002\/ajmg.a.70290"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.70290","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,8,31]]},"assertion":[{"value":"2026-05-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-17","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-08-31","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"ajmg.a.70290"}}