Pathogenic variants in NR2F2 have been associated with congenital malformations, including congenital heart disease, congenital diaphragmatic hernia, and syndromic 46,XX testicular or ovo-testicular difference/disorder in sex development (DSD) (Polvani et al., 2019; Bashamboo et al., 2018). This evidence concerns the gene NR2F2 and congenital heart disease.