Genetic and molecular mechanisms of hereditary thoracic aortic aneurysm and dissection (Review) - PubMed
5 hours ago
- #genetic pathways
- #vascular disorders
- #HTAD mechanisms
- Hereditary thoracic aortic aneurysm and dissection (HTAD) is life-threatening with unclear pathogenesis.
- HTAD includes syndromic forms (Marfan, Loeys-Dietz, vascular Ehlers-Danlos) and non-syndromic forms (familial TAAD, bicuspid aortic valve-associated TAAD).
- Core mechanisms involve extracellular matrix disruption, dysregulated TGF-β signaling, vascular smooth muscle cell dysfunction, and abnormal hemodynamic stress in some cases.
- Understanding these mechanisms aids in risk assessment and targeted therapy development.