Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot

PurposeTo determine disease-associated single-gene variants in conotruncal defects, particularly tetralogy of Fallot (TOF).MethodsWe analyzed for rare loss-of-function and deleterious variants in FLT4 (VEGFR3) and other genes in the vascular endothelial growth factor (VEGF) pathway, as part of a genome sequencing study involving 175 adults with TOF from a single site.ResultsWe identified nine (5.1%) probands with novel FLT4 variants: seven...