The Genetics of Thoracic Aortic Aneurysms and Dissection: A Clinical Perspective.
Nicolai P OstbergMohammad A ZafarBulat A ZiganshinJohn A ElefteriadesPublished in: Biomolecules (2020)
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.
Keyphrases
- genome wide
- end stage renal disease
- aortic aneurysm
- aortic valve
- spinal cord
- randomized controlled trial
- intellectual disability
- ejection fraction
- newly diagnosed
- chronic kidney disease
- pulmonary artery
- prognostic factors
- peritoneal dialysis
- cardiovascular events
- gene expression
- copy number
- cardiovascular disease
- risk factors
- pulmonary hypertension
- heat stress
- stress induced
- aortic dissection
- finite element