Comparison of biomechanical properties in ascending aortic aneurysms of patients with congenital bicuspid aortic valve and Marfan syndrome.

Background: In patients with ascending aortic aneurysms (AscAA), biomechanical differences are seen among patients with congenital bicuspid aortic valves (BAV), Marfan syndrome (MFS), and tricuspid aortic valves (TAV). We examined the hemodynamic profiles and ultrastructures of aneurysmal specimens, focusing on vascular remodelling to better understand AscAA pathogenesis.

Methods: A total of 795 patients with BAV (43.

ROBO4 variants predispose individuals to bicuspid aortic valve and thoracic aortic aneurysm.

Bicuspid aortic valve (BAV) is a common congenital heart defect (population incidence, 1-2%) that frequently presents with ascending aortic aneurysm (AscAA). BAV/AscAA shows autosomal dominant inheritance with incomplete penetrance and male predominance. Causative gene mutations (for example, NOTCH1, SMAD6) are known for ≤1% of nonsyndromic BAV cases with and without AscAA, impeding mechanistic insight and development of therapeutic strategies.