Absence of TGFBR1 and TGFBR2 Mutations in Patients With Bicuspid Aortic Valve and Aortic Dilation

Cammon B. Arrington, C. Todd Sower, Naomi Chuckwuk, Jeff Stevens, Mark F. Leppert, Anji T. Yetman, Neil E. Bowles

Research output: Contribution to journalArticle

35 Scopus citations


Mutations in the genes encoding transforming growth factor-β receptor types I and II (TGFBR1 and TGFBR2, respectively) are commonly identified in patients with Loeys-Dietz syndrome, as well as some patients with Marfan's syndrome or familial thoracic aortic aneurysms and dissections. This suggests that there is considerable phenotypic heterogeneity associated with mutations in these genes. Because bicuspid aortic valve (BAV) is a congenital heart defect in patients with Loeys-Dietz syndrome, this study was conducted to investigate whether variants in TGFBR1 or TGFBR2 are responsible for sporadic BAV. Analysis of these genes in 35 patients with BAVs identified only known single-nucleotide polymorphisms or novel synonymous or intronic substitutions. In conclusion, mutations in TGFBR1 and TGFBR2 rarely cause sporadic BAV.

Original languageEnglish (US)
Pages (from-to)629-631
Number of pages3
JournalAmerican Journal of Cardiology
Issue number5
StatePublished - Sep 1 2008


ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

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