Review Article

Genetic Insights into Bicuspid Aortic Valve Formation

Table 2

Mouse models of bicuspid aortic valve formation.

Gene affectedHuman cardiac phenotypeMouse modelMouse valve phenotypeCardiovascular expressionReference

Hoxa1IAAB, ASC, VSD, BAV, TOFHoxa1−/−BAVNeural crest cells, OFT endocardium and myocardium, Secondary heart field[40]
NOS3Not reportedNos3−/−BAVEndocardium, myocardium[42]
Gata5Not reportedGata5−/− and Tie2Cre; Gata5F/FBAVEndocardium, AV and OFT endocardial cushions, subset of endocardial cells, epicardium[47]
Nkx2.5ASD, AV block, VSD, TOF, HCMNkx2.5GFPhet, Nkx2.5HDneohet BAV, aortic aneurysmMyocardium[53]

ASC: aberrant subclavian artery; ASD: atrial septal defect; AV: atrioventricular; BAV: bicuspid aortic valve; HCM: hypertrophic cardiomyopathy; IAAB: interrupted aortic arch type B; VSD: ventricular septal defect; TOF: tetralogy of Fallot.