{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T03:01:52Z","timestamp":1761102112286},"reference-count":31,"publisher":"Wiley","issue":"11","license":[{"start":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T00:00:00Z","timestamp":1407715200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Cardiology"],"published-print":{"date-parts":[[2014,11]]},"abstract":"ABSTRACT<\/jats:title>Background<\/jats:title>Total serum transforming growth factor\u2010beta 1 (tsTGF<\/jats:styled-content>\u2010\u03b21) is increased in patients with Marfan syndrome (MFS<\/jats:styled-content>), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD<\/jats:styled-content>), Loeys\u2010Dietz syndrome (LDS<\/jats:styled-content>), and bicuspid aortic valve disease (BAVD<\/jats:styled-content>).<\/jats:p><\/jats:sec>Hypothesis<\/jats:title>tsTGF<\/jats:styled-content>\u2010\u03b21 is increased in genetic aortic syndromes including TAAD<\/jats:styled-content>, LDS<\/jats:styled-content>, MFS<\/jats:styled-content>, and BAVD<\/jats:styled-content>.<\/jats:p><\/jats:sec>Methods<\/jats:title>We measured tsTGF<\/jats:styled-content>\u2010\u03b21 and performed sequencing of the genes FBN1<\/jats:styled-content><\/jats:italic>, TGFBR1<\/jats:styled-content><\/jats:italic>, and TGFBR2<\/jats:styled-content><\/jats:italic> in 317 consecutive patients with suspected or known genetic aortic syndrome (167 men, 150 women; mean age 43\u2009\u00b1\u200914\u2009years). TAAD<\/jats:styled-content> was diagnosed in 20, LDS<\/jats:styled-content> in 20, MFS<\/jats:styled-content> in 128, and BAVD<\/jats:styled-content> in 30 patients, and genetic aortic syndrome was excluded in 119 patients.<\/jats:p><\/jats:sec>Results<\/jats:title>Elevated tsTGF<\/jats:styled-content>\u2010\u03b21 levels were associated with causative gene mutations (P<\/jats:italic> = 0.008), genetic aortic syndrome (P<\/jats:italic> = 0.009), and sporadic occurrence of genetic aortic syndrome (P<\/jats:italic> = 0.048), whereas only genetic aortic syndrome qualified as an independent predictor of tsTGF<\/jats:styled-content>\u2010\u03b21 (P<\/jats:italic> = 0.001). The tsTGF<\/jats:styled-content>\u2010\u03b21 levels were elevated in FBN1<\/jats:styled-content><\/jats:italic> and NOTCH1<\/jats:styled-content><\/jats:italic> mutations vs patients without mutations (both P<\/jats:italic> = 0.004), and in NOTCH1<\/jats:styled-content><\/jats:italic> mutations vs ACTA2<\/jats:styled-content><\/jats:italic>\/MYH11<\/jats:styled-content><\/jats:italic> mutations (P<\/jats:italic> = 0.015). Similarly, tsTGF<\/jats:styled-content>\u2010\u03b21 levels were elevated in MFS<\/jats:styled-content> (P<\/jats:italic> = 0.003) and in BAVD<\/jats:styled-content> (P<\/jats:italic> = 0.006) vs patients without genetic aortic syndrome. In contrast to specific clinical features of MFS<\/jats:styled-content>, FBN1<\/jats:styled-content><\/jats:italic> in\u2010frame mutations (P<\/jats:italic> = 0.019) were associated with increased tsTGF<\/jats:styled-content>\u2010\u03b21 levels.<\/jats:p><\/jats:sec>Conclusions<\/jats:title>tsTGF<\/jats:styled-content>\u2010\u03b21 is elevated in the entire spectrum of genetic aortic syndromes. However, gradual differences in the increases of tsTGF<\/jats:styled-content>\u2010\u03b21 levels may mirror different degrees of alteration of tsTGF<\/jats:styled-content>\u2010\u03b21 signaling in different genetic aortic syndromes.<\/jats:p><\/jats:sec>","DOI":"10.1002\/clc.22320","type":"journal-article","created":{"date-parts":[[2014,8,11]],"date-time":"2014-08-11T20:21:49Z","timestamp":1407788509000},"page":"672-679","source":"Crossref","is-referenced-by-count":35,"title":["Total Serum Transforming Growth Factor\u2010\u03b21 Is Elevated in the Entire Spectrum of Genetic Aortic Syndromes"],"prefix":"10.1002","volume":"37","author":[{"given":"Mathias","family":"Hillebrand","sequence":"first","affiliation":[{"name":"Centre of Cardiology and Cardiovascular Surgery University Medical Centre Hamburg\u2010Eppendorf Hamburg Germany"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Nathalie","family":"Millot","sequence":"additional","affiliation":[{"name":"Centre of 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