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More recently, TAAD has also been demonstrated to occur as an autosomal dominant disorder in the absence of syndromic features, termed <jats:italic>familial TAAD<\/jats:italic>. Familial TAAD demonstrates genetic heterogeneity, and linkage studies have identified TAAD loci at 5q13\u201014 (<jats:italic>TAAD1<\/jats:italic>), 11q23 (<jats:italic>FAA1<\/jats:italic>), 3p24\u201025 (<jats:italic>TAAD2<\/jats:italic>), and 16p12.2\u201013.13. The genetic heterogeneity of TAAD is reflected by variation in disease in terms of the age of onset, progression, penetrance, and association with additional cardiac and vascular features. The underlying genetic heterogeneity of TAAD is reflected in the phenotypic variation associated with familial TAAD with respect to age of onset, progression, penetrance, and association with additional cardiac and vascular features. Mutations in the <jats:italic>TGFBR2<\/jats:italic> gene have been identified as the cause of disease linked to the 3p24\u201025 locus<jats:italic>,<\/jats:italic> implicating dysregulation of TGF\u2010\u03b2 signaling in TAAD. Mutations in myosin heavy chain (<jats:italic>MYH11<\/jats:italic>), a smooth muscle cell\u2010specific contractile protein, have been identified in familial TAAD associated with patent ductus arteriosus (PDA) linked to 16p12.2\u201012.13. The identification of these novel disease pathways has led to new directions for future research addressing the pathology and treatment of TAAD.<\/jats:bold> <\/jats:p>","DOI":"10.1196\/annals.1383.024","type":"journal-article","created":{"date-parts":[[2006,12,20]],"date-time":"2006-12-20T19:58:12Z","timestamp":1166644692000},"page":"242-255","source":"Crossref","is-referenced-by-count":38,"title":["Genetic Basis of Thoracic Aortic Aneurysms and Dissections"],"prefix":"10.1111","volume":"1085","author":[{"given":"HARIYADARSHI","family":"PANNU","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"NILI","family":"AVIDAN","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"VAN","family":"TRAN\u2010FADULU","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"DIANNA M.","family":"MILEWICZ","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2006,12,5]]},"reference":[{"key":"e_1_2_5_2_2","doi-asserted-by":"publisher","DOI":"10.1161\/01.ATV.7.6.637"},{"key":"e_1_2_5_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0146-2806(97)80004-7"},{"key":"e_1_2_5_4_2","doi-asserted-by":"publisher","DOI":"10.1093\/oxfordjournals.aje.a117596"},{"key":"e_1_2_5_5_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI118037"},{"key":"e_1_2_5_6_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI8931"},{"key":"e_1_2_5_7_2","first-page":"1103","article-title":"Thoracic aortic aneurysms: a population\u2010based study","volume":"92","author":"Bickerstaff L.K.","year":"1982","journal-title":"Surgery"},{"key":"e_1_2_5_8_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF02275142"},{"key":"e_1_2_5_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/0002-9610(84)90020-5"},{"key":"e_1_2_5_10_2","doi-asserted-by":"publisher","DOI":"10.1067\/mva.1991.26359"},{"key":"e_1_2_5_11_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1996.tb33296.x"},{"key":"e_1_2_5_12_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1996.tb33297.x"},{"key":"e_1_2_5_13_2","first-page":"650","article-title":"Familial occurrence of abdominal aortic aneurysms","volume":"95","author":"Norrgard O.","year":"1984","journal-title":"Surgery"},{"key":"e_1_2_5_14_2","first-page":"164","article-title":"On the inheritance of abdominal aortic aneurysm","volume":"48","author":"Majumder P.P.","year":"1991","journal-title":"Am. 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