Article
Aortic Disease Presentation and Outcome Associated With ACTA2 Mutations.
Circulation. Cardiovascular genetics - 1 Jun 2015
Regalado Ellen S, Guo Dong-chuan, Prakash Siddharth, Bensend Tracy A, Flynn Kelly, Estrera Anthony, Safi Hazim, Liang David, Hyland James, Child Anne, Arno Gavin, Boileau Catherine, Jondeau Guillaume, Braverman Alan, Moran Rocio, Morisaki Takayuki, Morisaki Hiroko, Pyeritz Reed, Coselli Joseph, LeMaire Scott, Milewicz Dianna M
Abstract excerpt
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...
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