The aim of the present study was to determine the association of variants belonging to different genes including ISL1: rs1017 (NG_023040.1:g.16138A > T), NFATc1: rs7240256 (NG_029226.1:g.23449 T > C), VEGF: rs36208048 (NG_008732.1:g.3877C > A), TBX5: rs11067075 (NG_007373.1:g.51682G > T), HEY2: (NC_000006.10:g.126117350A > C) and MTHFR: rs1801133 (NG_013351.1:g.14783C > T), with VSD. This evidence concerns the gene TBX5 and ventricular septal defect.