The science of BAV aortopathy

Area of Science:

• Cardiovascular Medicine
• Genetics
• Biomedical Engineering

Background:

• Aortopathy is a significant complication of bicuspid aortic valve (BAV), leading to aortic aneurysm and dissection.
• The precise pathogenesis of BAV-associated aortopathy remains incompletely understood, likely involving complex interactions.
• Existing research highlights the interplay of genetic predispositions and altered hemodynamic forces.

Purpose of the Study:

• To review current knowledge on the pathogenesis of aortopathy in patients with bicuspid aortic valve.
• To synthesize evidence from genetic and hemodynamic studies.
• To discuss the implications for clinical management and future research.

Main Methods:

• Literature review of genetic studies identifying variants associated with BAV and aortopathy.
• Analysis of research on hemodynamic alterations in BAV patients, including flow patterns and wall shear stress.
• Examination of molecular and cellular changes in the aortic wall.

Main Results:

• Genetic studies have identified several variants (e.g., NOTCH1, TGFBR2) but explain a small percentage of cases.
• Hemodynamic investigations reveal abnormal flow dynamics and increased stress on the aortic wall.
• Cellular and molecular changes include extracellular matrix degradation, smooth muscle cell alterations, and TGF-β pathway imbalance.

Conclusions:

• BAV aortopathy pathogenesis is multifactorial, driven by a complex interplay of genetic and hemodynamic factors.
• Diverse aortopathy phenotypes in BAV patients may have prognostic significance.
• A comprehensive understanding of these mechanisms is essential for advancing clinical management strategies.