NOTCH2 and congenital heart disease: Additionally, mutations in Notch receptors and their ligands have been identified as the causal agents of human congenital heart diseases, including VSDs.[10] In this patient, similar genetic variations were found: NOTCH2, exon 2, c.137A > G, p.N46S; exon 2, c.112G > A, p.E38K; exon 1, c.57C > G, p.C19W; exon 2, c.137A > G, p.N46S; exon 2, c.112G > A, p.E38K; and exon 1, c.57C > G, p.C19W, which are all considered deleterious.