New imaging techniques project the cellular and molecular alterations underlying bicuspid aortic valve development

Area of Science:

• Cardiology
• Genetics
• Medical Imaging

Background:

• Bicuspid aortic valve (BAV) is the most common congenital heart defect, increasing risks for valve deterioration and aortic dilation.
• Genetic factors have historically guided BAV treatment, but recent evidence highlights the importance of hemodynamic stressors.
• There's a critical need for improved risk stratification to enable early detection and prediction of BAV-related valvulopathy and aortopathy.

Purpose of the Study:

• To merge evidence from imaging and basic science studies.
• To develop a coherent hypothesis for BAV development and associated aortopathy.
• To identify susceptibility to aneurysm formation/rupture for improved diagnosis and management.

Main Methods:

• Utilizing advanced imaging like 4D flow MRI, 2D/3D speckle-tracking imaging (STI), and computational fluid dynamics.
• Analyzing gene mutations, signaling pathways, hemodynamic influences, biomarkers, and immune responses.
• Integrating diverse data to understand BAV progression and aortic abnormalities.

Main Results:

• Cutting-edge technologies reveal insights into BAV valvulopathy progression.
• Studies identify alterations in genes, pathways, hemodynamics, biomarkers, and immune responses.
• Evidence points to the interplay of genetic and hemodynamic factors in BAV disease.

Conclusions:

• A comprehensive approach combining imaging and basic science is essential for understanding BAV.
• Improved risk stratification can lead to earlier detection and better management of BAV complications.
• This integrated hypothesis aims to enhance the diagnosis and treatment of BAV-related aortopathy and its risks.