Gene Mutations and Familial Thoracic Aortic Aneurysms: A Walk on the Mild Side

J. M. Spin
2011 Circulation: Cardiovascular Genetics  
A scending thoracic aortic aneurysms leading to acute dissection (TAAD) are responsible for significant premature mortality in the United States and are associated with a wide range of underlying conditions including hypertension, bicuspid aortic valve, and syndromic conditions such as Marfan syndrome (MFS) or Loeys-Dietz syndrome. 1 In the absence of a syndromic cause, it has been estimated that 19% to 20% of TAAD cases have a genetic component leading to familial TAAD (FTAAD). These
more » ... D). These conditions display interfamilial variability as well as variable penetrance and severity. 2,3
doi:10.1161/circgenetics.110.959171 pmid:21325162 fatcat:xgjx3t7iknf55ilgznrrbsefii