Distinct etiologies: the influence of structures, pathways, and cell-lineages on bicuspid aortic valve phenotypes
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Bicuspid aortic valve (BAV) is a congenital heart condition where the aortic valve has two leaflets instead of the regular three leaflets. With a prevalence of 0.5% to 1.4% and its interconnectedness with multiple other conditions, understanding the causes of BAV is crucial for developing effective screening techniques and gene therapy treatments. BAV develops from either a leaflet not forming or the fusion of two leaflets, leading to different BAV phenotypes. Recent studies have suggested that the BAV phenotypes have distinct causes. Normally, the aortic valve forms from three cellular populations that interact and undergo specific processes to create the three distinct leaflets. Human cohort screenings have begun to elucidate the genes involved in these BAV phenotypes, and experimental studies have demonstrated the processes and cell lineages affected. Such research has substantially increased our understanding of BAV development and highlighted key features in valve development. This review will discuss the key processes and cell lineages involved in the development of different BAV phenotypes.
This paper was presented at the Augustana Student Academic Conference during the Fall 2025 term.
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http://purl.org/coar/resource_type/R60J-J5BD
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en