Heritable Thoracic Aortic Aneurysms and Dissections

Tech Vasc Interv Radiol. 2021 Jun;24(2):100747. doi: 10.1016/j.tvir.2021.100747. Epub 2021 Jul 26.

Abstract

A large portion of thoracic aortic aneurysms and dissections (TAAD) have a genetic etiology. In recent decades, numerous genes have been identified as associated with heritable thoracic aortic aneurysms and dissections (HTAAD), providing important insights into the underlying molecular mechanisms of both conditions. Today's sequencing technology has allowed us to screen people with high risk of HTAAD, and provide gene‑tailored treatment and management. This review aims to provide an overview of the genetic basis of HTAAD, its underlying molecular mechanism, and practical recommendations for genetic and clinical evaluation as well as patient management.

Keywords: Clinical evaluation; Genetic evaluation; Genetics; Inheritable thoracic aortic aneurysm and dissection; management.

Publication types

  • Review

MeSH terms

  • Aortic Aneurysm, Thoracic* / diagnostic imaging
  • Aortic Aneurysm, Thoracic* / genetics
  • Aortic Aneurysm, Thoracic* / surgery
  • Aortic Dissection* / diagnostic imaging
  • Aortic Dissection* / genetics
  • Aortic Dissection* / therapy
  • Dissection
  • Humans