Comparison of Genes Associated with Thoracic and Abdominal Aortic Aneurysms.
Argyrios GyftopoulosBulat A ZiganshinJohn A ElefteriadesCassius I Ochoa ChaarPublished in: Aorta (Stamford, Conn.) (2023)
Aneurysms impacting the ascending thoracic aorta and the abdominal aorta affect patient populations with distinct clinical characteristics. Through a literature review, this paper compares the genetic associations of ascending thoracic aortic aneurysm (ATAA) with abdominal aortic aneurysms (AAA). Genes related to atherosclerosis, lipid metabolism, and tumor development are associated specifically with sporadic AAA, while genes controlling extracellular matrix (ECM) structure, ECM remodeling, and tumor growth factor β function are associated with both AAA and ATAA. Contractile element genes uniquely predispose to ATAA. Aside from known syndromic connective tissue disease and poly-aneurysmal syndromes (Marfan disease, Loeys-Dietz syndrome, and Ehlers-Danlos syndrome), there is only limited genetic overlap between AAA and ATAA. The rapid advances in genotyping and bioinformatics will elucidate further the various pathways associated with the development of aneurysms affecting various parts of the aorta.
Keyphrases
- abdominal aortic
- genome wide
- extracellular matrix
- pulmonary artery
- growth factor
- case report
- aortic aneurysm
- aortic dissection
- aortic valve
- spinal cord
- dna methylation
- coronary artery
- pulmonary hypertension
- bioinformatics analysis
- genome wide identification
- copy number
- pulmonary arterial hypertension
- skeletal muscle
- intellectual disability
- late onset
- cardiovascular disease
- smooth muscle
- type diabetes
- drug induced
- autism spectrum disorder
- fatty acid
- early onset