Bicuspid aortic valve-associated aortopathy: Where do we stand?

Area of Science:

• Cardiovascular Research
• Genetics and Molecular Biology
• Biomedical Engineering

Background:

• Bicuspid aortic valve (BAV) is a common congenital heart defect associated with aortopathy, a serious complication affecting the aorta.
• Current knowledge on BAV-associated aortopathy spans clinical, genetic, hemodynamic, histopathological, cellular, and animal model aspects.
• Despite significant research, fundamental questions regarding BAV development and aortopathy pathogenesis persist.

Purpose of the Study:

• To summarize current knowledge on bicuspid aortic valve (BAV)-associated aortopathy.
• To identify critical knowledge gaps and areas requiring further investigation.
• To emphasize the need for a unified research approach to accelerate progress.

Main Methods:

• Comprehensive review of existing literature on BAV-associated aortopathy.
• Synthesis of information across diverse research domains including genetics, hemodynamics, and pathology.
• Identification of unresolved questions and research challenges.

Main Results:

• Significant progress has been made in understanding various facets of BAV-associated aortopathy.
• Key knowledge gaps remain concerning the ontogeny of BAV, the diversity of associated phenotypes, and the specific signaling pathways involved in pathogenesis.
• The current body of research, while extensive, lacks integration, hindering a complete understanding of the BAV aorta.

Conclusions:

• A comprehensive understanding of BAV-associated aortopathy requires addressing fundamental questions about its development and the heterogeneity of its clinical manifestations.
• Interfering with pathogenic signaling pathways presents a potential therapeutic avenue but requires further elucidation.
• A collaborative, integrated research strategy is essential to overcome current limitations and advance the field.