Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.

ABSTRACT:

Background

ACTA2 mutations are the major cause of familial thoracic aortic aneurysms and dissections. We sought to characterize these aortic diseases in a large case series of individuals with ACTA2 mutations.

Methods and results

Aortic disease, management, and outcome associated with the first aortic event (aortic dissection or aneurysm repair) were abstracted from the medical records of 277 individuals with 41 various ACTA2 mutations. Aortic events occurred in 48% of these individuals, with the vast majority presenting with thoracic aortic dissections (88%) associated with 25% mortality. Type A dissections were more common than type B dissections (54% versus 21%), but the median age of onset of type B dissections was significantly younger than type A dissections (27 years

SUBMITTER: Regalado ES 

PROVIDER: S-EPMC4601641 | biostudies-literature | 2015 Jun

REPOSITORIES: biostudies-literature