Unravelling the Pathogenetic Mechanisms in Congenital Aortopathies: Need for an Integrative Translational Approach

Area of Science:

• Cardiovascular Medicine
• Genetics
• Translational Research

Background:

• Congenital heart disease (CHD)-associated aortopathy presents heterogeneously, with bicuspid aortic valve (BAV)-associated disease being most common.
• BAV aortopathy increases risks of aortic dissection and sudden cardiac death, yet current risk stratification is limited.
• The precise pathogenesis of aortopathy remains incompletely understood, hindering effective prevention and management.

Discussion:

• Current risk stratification for aortopathy relies heavily on maximal aortic diameter, offering limited individual risk prediction.
• There is a critical need for research integrating genetic factors, circulating biomarkers, and aortic microstructural changes.
• Understanding these complex pathways is essential for developing targeted therapeutic strategies.

Key Insights:

• Bicuspid aortopathy is a significant concern in individuals with BAV, linked to severe aortic events.
• Existing diagnostic and prognostic tools for aortopathy are insufficient for personalized patient care.
• Translational research is crucial to bridge the gap between basic science discoveries and clinical application.

Outlook:

• Future research should focus on integrative approaches to elucidate aortopathy pathogenesis.
• Identifying novel biomarkers and genetic targets will improve risk stratification and patient outcomes.
• Advancing our understanding of CHD-associated aortopathies is vital for improving long-term cardiovascular health.