Total serum transforming growth factor-β1 is elevated in the entire spectrum of genetic aortic syndromes.

ABSTRACT:

Background

Total serum transforming growth factor-beta 1 (tsTGF-β1) is increased in patients with Marfan syndrome (MFS), but it has not been assessed in thoracic aortic aneurysm and dissection (TAAD), Loeys-Dietz syndrome (LDS), and bicuspid aortic valve disease (BAVD).

Hypothesis

tsTGF-β1 is increased in genetic aortic syndromes including TAAD, LDS, MFS, and BAVD.

Methods

We measured tsTGF-β1 and performed sequencing of the genes FBN1, TGFBR1, and TGFBR2 in 317 consecutive patients with suspected or known genetic aortic syndrome (167 men, 150 women; mean age 43 ± 14 years). TAAD was diagnosed in 20, LDS in 20, MFS in 128, and BAVD in 30 patients, and genetic aortic syndrome was excluded in 119 patients.

Results

Elevated tsTGF-β1 levels were associated with cau

SUBMITTER: Hillebrand M 

PROVIDER: S-EPMC6649456 | biostudies-literature | 2014 Nov

REPOSITORIES: biostudies-literature