{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T05:36:07Z","timestamp":1790487367341,"version":"4.1.0"},"reference-count":45,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T00:00:00Z","timestamp":1675900800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cardiovasc. Med."],"abstract":"<jats:sec><jats:title>Background<\/jats:title><jats:p>Thoracic aortopathy is a serious complication which is more often seen in patients with Marfan syndrome (MFS) and patients with a bicuspid aortic valve (BAV) than in individuals with a tricuspid aortic valve (TAV). The identification of common pathological mechanisms leading to aortic complications in non-syndromic and syndromic diseases would significantly improve the field of personalized medicine.<\/jats:p><\/jats:sec><jats:sec><jats:title>Objective<\/jats:title><jats:p>This study sought to compare thoracic aortopathy between MFS, BAV, and TAV individuals.<\/jats:p><\/jats:sec><jats:sec><jats:title>Materials and methods<\/jats:title><jats:p>Bicuspid aortic valve (BAV; <jats:italic>n<\/jats:italic> =\u200936), TAV (<jats:italic>n<\/jats:italic> =\u200923), and MFS (<jats:italic>n<\/jats:italic> =\u20098) patients were included. Ascending aortic wall specimen were studied for general histologic features, apoptosis, markers of cardiovascular ageing, expression of synthetic and contractile vascular smooth muscle cells (VSMC), and fibrillin-1 expression.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>The MFS group showed many similarities with the dilated BAV. Both patient groups showed a thinner intima (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.0005), a lower expression of contractile VSMCs (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.05), more elastic fiber thinning (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.001), lack of inflammation (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.001), and a decreased progerin expression (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.05) as compared to the TAV. Other features of cardiovascular ageing differed between the BAV and MFS. Dilated BAV patients demonstrated less medial degeneration (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.0001), VSMC nuclei loss (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.0001), apoptosis of the vessel wall (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.03), and elastic fiber fragmentation and disorganization (<jats:italic>p<\/jats:italic> &amp;lt;\u20090.001), as compared to the MFS and dilated TAV.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>This study showed important similarities in the pathogenesis of thoracic aortic aneurysms in BAV and MFS. These common mechanisms can be further investigated to personalize treatment strategies in non-syndromic and syndromic conditions.<\/jats:p><\/jats:sec>","DOI":"10.3389\/fcvm.2023.1018167","type":"journal-article","created":{"date-parts":[[2023,2,9]],"date-time":"2023-02-09T04:44:03Z","timestamp":1675917843000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":10,"title":["Thoracic aortopathy in Marfan syndrome overlaps with mechanisms seen in bicuspid aortic valve disease"],"prefix":"10.3389","volume":"10","author":[{"given":"Nimrat","family":"Grewal","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Onur","family":"Dolmaci","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evert","family":"Jansen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert","family":"Klautz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antoine","family":"Driessen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert E.","family":"Poelmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,2,9]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"985","DOI":"10.1016\/S0741-5214(95)70227-X","article-title":"Ruptured thoracic aortic aneurysms: a study of incidence and mortality rates","volume":"21","author":"Johansson","year":"1995","journal-title":"J Vasc Surg"},{"key":"ref2","doi-asserted-by":"publisher","first-page":"568","DOI":"10.1001\/archsurg.1971.01350110066010","article-title":"Medical vs surgical treatment of acute dissecting aneurysms","volume":"103","author":"Attar","year":"1971","journal-title":"Arch Surg"},{"key":"ref3","doi-asserted-by":"publisher","first-page":"237","DOI":"10.1016\/S0003-4975(10)65594-4","article-title":"Management of acute aortic dissections","volume":"10","author":"Daily","year":"1970","journal-title":"Ann Thorac Surg"},{"key":"ref4","first-page":"305","article-title":"Acute aortic dissection in the young: clinical series","volume":"62","author":"Bossone","year":"2007","journal-title":"Minerva Chir"},{"key":"ref5","doi-asserted-by":"publisher","first-page":"1683","DOI":"10.1016\/j.amjcard.2016.02.048","article-title":"Characteristics and outcomes of ascending versus descending thoracic aortic aneurysms","volume":"117","author":"Vapnik","year":"2016","journal-title":"Am J Cardiol"},{"key":"ref6","doi-asserted-by":"publisher","first-page":"1104","DOI":"10.1001\/jama.2011.1286","article-title":"Incidence of aortic complications in patients with bicuspid aortic valves","volume":"306","author":"Michelena","year":"2011","journal-title":"JAMA"},{"key":"ref7","doi-asserted-by":"publisher","first-page":"279","DOI":"10.1016\/j.gene.2016.07.033","article-title":"FBN1: the disease-causing gene for Marfan syndrome and other genetic disorders","volume":"591","author":"Sakai","year":"2016","journal-title":"Gene"},{"key":"ref8","doi-asserted-by":"publisher","first-page":"2873","DOI":"10.1093\/eurheartj\/ehu281","article-title":"2014 ESC guidelines on the diagnosis and treatment of aortic diseases: document covering acute and chronic aortic diseases of the thoracic and abdominal aorta of the adult. 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