We genotyped 771 CVM cases, of whom 595 had the outflow tract malformation Tetralogy of Fallot (TOF), and carried out TDT and case-control analyses using haplotype-tagging SNPs in VEGF.
Disturbed vascular endothelial growth factor (VEGF) production during early heart morphogenesis causes endocardial cushion malformation, which results in congenital heart disease (CHD).