{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,18]],"date-time":"2026-10-18T18:41:13Z","timestamp":1792348873547,"version":"4.4.0"},"reference-count":116,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"24","content-domain":{"domain":["www.ahajournals.org"],"crossmark-restriction":true},"short-container-title":["Circulation"],"published-print":{"date-parts":[[2016,6,14]]},"abstract":"<jats:p>\n            Thoracic aortic aneurysm is a potentially life-threatening condition in that it places patients at risk for aortic dissection or rupture. However, our modern understanding of the pathogenesis of thoracic aortic aneurysm is quite limited. A genetic predisposition to thoracic aortic aneurysm has been established, and gene discovery in affected families has identified several major categories of gene alterations. The first involves mutations in genes encoding various components of the transforming growth factor beta (TGF-\u03b2) signaling cascade (\n            <jats:italic>FBN1, TGFBR1, TGFBR2, TGFB2, TGFB3, SMAD2, SMAD3<\/jats:italic>\n            and\n            <jats:italic>SKI<\/jats:italic>\n            ), and these conditions are known collectively as the TGF-\u03b2 vasculopathies. The second set of genes encode components of the smooth muscle contractile apparatus (\n            <jats:italic>ACTA2, MYH11, MYLK<\/jats:italic>\n            , and\n            <jats:italic>PRKG1<\/jats:italic>\n            ), a group called the smooth muscle contraction vasculopathies. Mechanistic hypotheses based on these discoveries have shaped rational therapies, some of which are under clinical evaluation. This review discusses published data on genes involved in thoracic aortic aneurysm and attempts to explain divergent hypotheses of aneurysm origin.\n          <\/jats:p>","DOI":"10.1161\/circulationaha.116.009762","type":"journal-article","created":{"date-parts":[[2016,6,13]],"date-time":"2016-06-13T22:28:11Z","timestamp":1465856891000},"page":"2516-2528","update-policy":"https:\/\/doi.org\/10.1161\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":243,"title":["Hereditary Influence in Thoracic Aortic Aneurysm and Dissection"],"prefix":"10.1161","volume":"133","author":[{"given":"Eric M.","family":"Isselbacher","sequence":"first","affiliation":[{"name":"From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Christian Lacks","family":"Lino Cardenas","sequence":"additional","affiliation":[{"name":"From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts General Hospital, Harvard Medical School, Boston."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mark E.","family":"Lindsay","sequence":"additional","affiliation":[{"name":"From Thoracic Aortic Center (E.M.I., C.L.L.C., M.E.L.), Cardiovascular Genetics Program (M.E.L.), Cardiovascular Research Center (C.L.L.C., M.E.L.), and Cardiology Division (E.M.I., C.L.L.C., M.E.L.), Department of Medicine, and Pediatric Cardiology Division, Department of Pediatrics (M.E.L.), Massachusetts 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