[Familial thoracic aortic aneurysms and dissections can be divided into three different main categories].

  • Hannuksela M
  • Stattin E
  • Nyberg P
 et al. 
  • 2

    Readers

    Mendeley users who have this article in their library.
  • N/A

    Citations

    Citations of this article.

Abstract

Thoracic aortic aneurysms and dissections (TAAD) can be divided into three different main categories. 1. Inherited syndromes predisposing to TAAD such as Marfan syndrome, Ehlers-Danlos syndrome type IV and Loeys-Dietz syndrome (less than 5% of all TAAD). 2. Familial TAAD (FTAAD) with more than one affected family member (20 % of all TAAD). Inheritance shows an autosomal dominant pattern and there are no features of known syndromes. 3. Sporadic forms of TAAD with no family history or features of syndromic forms. FTAAD present earlier in life and dissections occur in smaller diameter than in sporadic cases. The underlying genetic cause can be found in about 20 % of the inherited cases. The pathogenesis seems to be an involvement of the transforming growth factor beta (TGFbeta) signaling pathway or a dysfunction of the smooth muscle cell contraction. The role of beta-blockers for aneurysm prevention is uncertain and there are on-going studies comparing angiotensin receptor blockers and beta-blockers.

Author-supplied keywords

  • Aneurysm, Dissecting
  • Aortic Aneurysm, Thoracic
  • Humans
  • Mutation
  • Pedigree
  • Syndrome
  • diagnosis
  • etiology
  • genetics
  • prevention & control

Get free article suggestions today

Mendeley saves you time finding and organizing research

Sign up here
Already have an account ?Sign in

Find this document

Authors

  • Matias Hannuksela

  • Eva-Lena Stattin

  • Peter Nyberg

  • Bo Carlberg

Cite this document

Choose a citation style from the tabs below

Save time finding and organizing research with Mendeley

Sign up for free