Remodelling of supernumerary leaflet primordia leads to bicuspid aortic valve caused by loss of primary cilia.

ABSTRACT:

Aims

Bicuspid aortic valve (BAV), where two valve leaflets are found instead of the usual three, affects 1-2% of the general population and is associated with significant morbidity and mortality. Despite its frequency, the majority of cases remain unexplained. This is, at least in part, because there are two types of valve leaflet primordia: endocardial cushions and intercalated valve swellings (ICVS). Moreover, multiple progenitors make distinct contributions to the formation of these primordia. Genomic studies in mouse and human have suggested a correlation between BAV and malfunctional primary cilia. However, the precise requirement for cilia during early embryonic valvulogenesis remains unknown.

Methods and results

Here, we disrupted primary cilia by deleting the ciliary

SUBMITTER: Alqahtani A 

PROVIDER: S-EPMC12477680 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature