Clinical-pathological correlations of BAV and the attendant thoracic aortopathies. Part 1: Pluridisciplinary...

Area of Science:

• Cardiovascular Medicine
• Developmental Biology
• Biophysics

Background:

• Bicuspid aortic valve (BAV) is a congenital heart defect involving fusion of two of the three aortic valve leaflets, leading to abnormal valve function.
• BAV is associated with aortopathy, endocarditis, thrombosis, and thromboembolism, posing significant clinical challenges.
• The embryological origins of BAV and aortopathy may involve shared genetic factors from neural crest and second heart field cells.

Purpose of the Study:

• To explore the hemodynamic and morphomechanical aspects of BAV-associated aortopathies.
• To investigate the potential multifactorial/polygenic embryological basis linking BAV and aortopathies.
• To highlight the role of hydrodynamic forces in the pathogenesis of BAV-related vascular complications.

Main Methods:

• Analysis of altered blood flow trajectories and hydrodynamic wall-shear stress patterns in the proximal aorta based on BAV morphologies.
• Correlation of hemodynamic findings with disruptions in vascular smooth muscle cells and extracellular matrix.
• Review of embryological origins and potential genetic links, emphasizing neural crest and second heart field contributions.

Main Results:

• Asymmetric BAV morphologies result in altered ejection flow, leading to distinct wall-impingement and scouring patterns.
• Excessive hydrodynamic wall-shear stress is closely correlated with vascular smooth muscle and extracellular matrix damage.
• Evidence suggests a common embryological basis for BAV and associated aortopathies, likely involving multifactorial/polygenic inheritance.

Conclusions:

• Hemodynamics play a crucial role in the pathogenesis of BAV-associated aortopathies.
• A shared embryological origin may link BAV and aortopathies, necessitating further genetic and developmental research.
• Integrating Electronic Health Records with genetic and phenotypic data is vital for understanding complex BAV interactions.