A cohort of patients with a mutation in PBX3 showed a range of phenotypes for congenital heart defects including outflow tract malformations such as tetralogy of Fallot, atrioventricular septal defect, persistent truncus arteriosus, bicuspid aortic valve, coarctation of the aorta, and hypoplastic left heart syndrome [108]. This evidence concerns the gene PBX3 and congenital heart disease.