{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,11]],"date-time":"2026-05-11T12:13:27Z","timestamp":1778501607198,"version":"3.51.4"},"reference-count":8,"publisher":"Oxford University Press (OUP)","issue":"5","license":[{"start":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T00:00:00Z","timestamp":1776729600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2026,4,30]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Loeys\u2013Dietz syndrome (LDS) is a heritable aortopathy characterized by variable cardiovascular involvement, including aortic aneurysms, dissections, and congenital cardiac anomalies. Marked intrafamilial variability is a well-recognized feature, underscoring the importance of systematic assessment of at-risk relatives.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Case summary<\/jats:title>\n                    <jats:p>We report a family in which the index patient presented with an early ventricular septal defect and progressive aortic root dilation requiring valve-sparing surgery. MRI-based family screening identified four additional affected relatives, demonstrating a broad clinical range from asymptomatic aortic dilation to advanced disease necessitating intervention.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Discussion<\/jats:title>\n                    <jats:p>This case highlights the marked variability in disease expression within a single family affected by LDS and emphasizes the importance of comprehensive genetic evaluation combined with structured MRI surveillance. Such an approach enables early detection of vascular involvement and supports timely management to prevent severe complications.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1093\/ehjcr\/ytag273","type":"journal-article","created":{"date-parts":[[2026,4,19]],"date-time":"2026-04-19T11:41:33Z","timestamp":1776598893000},"source":"Crossref","is-referenced-by-count":0,"title":["Case report: Loeys\u2013Dietz syndrome (\n                    <i>TGFB2<\/i>\n                    )"],"prefix":"10.1093","volume":"10","author":[{"ORCID":"https:\/\/orcid.org\/0009-0001-2324-8303","authenticated-orcid":false,"given":"Jan Uwe","family":"Desaga","sequence":"first","affiliation":[{"name":"Department of Internal Medicine III (Cardiology, Angiology, and Critical Care), University Medical Center Schleswig-Holstein , Campus Kiel, Kiel 24105 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hatim","family":"Seoudy","sequence":"additional","affiliation":[{"name":"Department of Internal Medicine III (Cardiology, Angiology, and Critical Care), University Medical Center Schleswig-Holstein , Campus Kiel, Kiel 24105 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Monika R\u00f3\u017cewicz","family":"Juraszek","sequence":"additional","affiliation":[{"name":"Department of Valvular Heart Diseases, The Cardinal Stefan Wyszy\u0144ski National Institute of Cardiology , Warsaw 04-628 ,","place":["Poland"]}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Inga","family":"Voges","sequence":"additional","affiliation":[{"name":"Department of Congenital Heart Disease and Paediatric Cardiology, University Medical Center Schleswig-Holstein , Campus Kiel, Kiel 24105 ,","place":["Germany"]}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[2026,4,21]]},"reference":[{"key":"2026051107564967500_ytag273-B1","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1038\/ng1511","article-title":"A syndrome of altered cardiovascular, craniofacial, neurocognitive and skeletal development caused by mutations in TGFBR1 or TGFBR2","volume":"37","author":"Loeys","year":"2005","journal-title":"Nat Genet"},{"key":"2026051107564967500_ytag273-B2","doi-asserted-by":"crossref","first-page":"576","DOI":"10.1038\/gim.2014.11","article-title":"Loeys-Dietz syndrome: a primer for diagnosis and management","volume":"16","author":"MacCarrick","year":"2014","journal-title":"Genet Med"},{"key":"2026051107564967500_ytag273-B3","doi-asserted-by":"crossref","first-page":"922","DOI":"10.1038\/ng.2349","article-title":"Loss-of-function mutations in TGFB2 cause a syndromic presentation of thoracic aortic aneurysm","volume":"44","author":"Lindsay","year":"2012","journal-title":"Nat Genet"},{"key":"2026051107564967500_ytag273-B4","doi-asserted-by":"crossref","DOI":"10.3389\/fgene.2024.1435734","article-title":"Novel variant alters splicing of TGFB2 in family with phenotypic variability in Loeys\u2013Dietz syndrome","volume":"15","author":"Gordon","year":"2024","journal-title":"Front Genet"},{"key":"2026051107564967500_ytag273-B5","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1016\/j.ijcard.2022.05.065","article-title":"Clinical features and complications of Loeys-Dietz syndrome: a systematic review","volume":"362","author":"Gouda","year":"2022","journal-title":"Int J Cardiol"},{"key":"2026051107564967500_ytag273-B6","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1186\/1532-429X-10-56","article-title":"Normal values for aortic diameters in children and adolescents \u2013 assessment in vivo by contrast-enhanced CMR-angiography","volume":"10","author":"Kaiser","year":"2008","journal-title":"Journal of Cardiovascular Magnetic Resonance"},{"key":"2026051107564967500_ytag273-B7","doi-asserted-by":"crossref","first-page":"220","DOI":"10.1186\/s12859-022-04759-y","article-title":"QuickPed: an online tool for drawing pedigrees and analysing relatedness","volume":"23","author":"Vigeland","year":"2022","journal-title":"BMC Bioinformatics"},{"key":"2026051107564967500_ytag273-B8","author":"Cleveland Clinic"}],"container-title":["European Heart Journal - 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