Bicuspid Aortic Valve: Unlocking the Morphogenetic Puzzle

Area of Science:

• Cardiology
• Genetics
• Medical Science

Background:

• Bicuspid aortic valve (BAV) is the most common congenital heart abnormality.
• Current understanding often treats BAV as a single entity, which may be inaccurate.
• Lack of consensus on phenotypic descriptions and classification schemes complicates BAV discussion.

Purpose of the Study:

• To review current evidence on unresolved issues concerning bicuspid aortic valve.
• To explore the concept of BAV as a cluster of diseases with diverse phenotypes, etiologies, and pathogenesis.
• To highlight the need for clarity in BAV classification and understanding.

Main Methods:

• Literature review of recent scientific publications.
• Analysis of studies on BAV phenotypes, genetic basis, and clinical manifestations.
• Examination of research on BAV-associated aortopathy and aneurysms.

Main Results:

• Evidence suggests BAV encompasses various phenotypes with distinct clinical associations.
• A genetic basis for BAV is indicated, but specific genes remain largely undescribed.
• Pathogenesis of bicuspid aortic valve aortopathy is not yet fully understood, despite increased focus on aneurysm risk.

Conclusions:

• BAV should be considered a spectrum of diseases rather than a single clinical entity.
• Further research is crucial to elucidate the genetic underpinnings and pathogenic mechanisms of BAV and its associated aortopathy.
• Standardized classification and deeper understanding of BAV phenotypes are needed for improved clinical management.