The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective

Biomolecules. 2020 Jan 24;10(2):182. doi: 10.3390/biom10020182.


Thoracic aortic aneurysm and dissection (TAAD) affects many patients globally and has high mortality rates if undetected. Once thought to be solely a degenerative disease that afflicted the aorta due to high pressure and biomechanical stress, extensive investigation of the heritability and natural history of TAAD has shown a clear genetic basis for the disease. Here, we review both the cellular mechanisms and clinical manifestations of syndromic and non-syndromic TAAD. We particularly focus on genes that have been linked to dissection at diameters <5.0 cm, the current lower bound for surgical intervention. Genetic screening tests to identify patients with TAAD associated mutations that place them at high risk for dissection are also discussed.

Keywords: genetic screening; genetics; non-syndromic TAAD; syndromic TAAD; thoracic aortic aneurysm and dissection (TAAD).

Publication types

  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic / genetics*
  • Aortic Aneurysm, Thoracic / physiopathology
  • Aortic Aneurysm, Thoracic / surgery
  • Aortic Dissection / genetics*
  • Aortic Dissection / physiopathology
  • Aortic Dissection / surgery
  • Genetic Predisposition to Disease*
  • Genetic Testing*
  • Humans
  • Mutation / genetics