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Related Experiment Videos

The genetic basis for aortic aneurysmal disease.

Athanasios Saratzis1, Matthew J Bown2

  • 1Warwickshire Vascular and Endovascular Unit, University Hospital Coventry & Warwickshire, Coventry, UK.

Heart (British Cardiac Society)
|May 21, 2014
PubMed
Summary

Genetic research reveals key factors in aortic aneurysm development. Understanding these genetic variants offers new avenues for non-surgical treatments for thoracic aortic aneurysm (TAA) and abdominal aortic aneurysm (AAA).

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Area of Science:

  • Genetics and Cardiovascular Disease
  • Aortic Aneurysm Pathobiology

Background:

  • Aortic aneurysms are a significant cause of cardiovascular mortality, particularly in the elderly.
  • Current understanding of aneurysm pathobiology is limited, hindering the development of non-surgical treatments.
  • Both thoracic aortic aneurysm (TAA) and abdominal aortic aneurysm (AAA) have a strong genetic basis.

Purpose of the Study:

  • To review and summarize current knowledge on the genetics underlying TAA and AAA.
  • To identify genetic variants contributing to aneurysmal degeneration of the aorta.
  • To enhance understanding of pathways involved in aneurysm development.

Main Methods:

  • Review of existing literature on genetic associations with TAA and AAA.
  • Analysis of candidate gene and genome-wide association studies.
Keywords:
Genetics

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  • Comparison of genetic findings between AAA, non-syndromic TAA, and syndromic TAA.

    • Main Results:

    • Abdominal aortic aneurysms (AAA) are multifactorial, involving multiple low-effect genetic variants.
    • Non-syndromic thoracic aortic aneurysms (TAA) are linked to fewer loci with higher effect sizes.
    • Key genes associated with AAA include SORT1, LRP1, and matrix metalloproteinases, implicating lipid metabolism and proteolytic pathways.
    • Genetic variants in ACTA2 and MYH11 are associated with non-syndromic TAA and link to the TGFβ pathway, common in syndromic TAA.

    Conclusions:

    • Genetic analysis is crucial for understanding aortic aneurysm pathogenesis.
    • Lipid metabolism and proteolytic pathways are central to AAA development.
    • The TGFβ pathway may represent a common mechanism in both syndromic and non-syndromic TAA.