Thoracic Aortic Aneurysm

Description

  • Aortopathies are conditions that result in aortic dilatation, aneurysm formation and dissection. 

  • Familial aortopathies, also known as familial thoracic aortic aneurysm and dissection (fTAAD), have been identified to have an underlying genetic cause and affect the aorta (particularly the thoracic aorta), aneurysm and dissection.

  • These conditions can affect other blood vessels and other body systems, depending on the underlying cause. 

  • A genetic etiology for a thoracic aortic aneurysm is more suspicious when the individual’s thoracic aorta measures >5cm, and they do not have a bicuspid aortic valve. 

  • Bicuspid aortic valves (BAV) are known to increase risk for thoracic aortic aneurysm and have a heritable component, however there are not many single gene causes for BAV known at this time. 

How often is a hereditary cause identified?

  • Genetic testing identifies a genetic etiology in approximately 20-30% of individuals with a thoracic aortic aneurysm, and a family history of thoracic aortic aneurysm (if they do not have syndromic features consistent with a well-defined syndrome such as Marfan syndrome). 

How does identifying a hereditary cause change a patient’s medical management?

  •  Identifying a causative gene can affect:

    • Timing of recommended surgical intervention

    • Extent and type of screening for other health concerns

  • Can help to identify other family members at risk to develop aortopathy. 

How are these conditions inherited?

  • Most familial aortopathies are inherited in an autosomal dominant inheritance pattern. 

  • Even if a genetic etiology is not identified on genetic testing – screening of the aorta is generally recommended for all first-degree relatives of an individual with a thoracic aortic aneurysm, as risk can still be observed in an autosomal dominant pattern.

Where can I learn more about familial thoracic aortic aneurysm?

References

  • Ostberg NP, Zafar MA, Ziganshin BA, Elefteriades JA. The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective. Biomolecules. 2020 Jan 24;10(2):182. doi: 10.3390/biom10020182. PMID: 31991693; PMCID: PMC7072177.