NOTCH1 and congenital heart disease: Alterations in the function of this transcription factor could lead to heart defects especially in concert with dysregulation of other heart development pathways such as NOTCH1. In addition to these findings, the epigenetic regulators KDM4A and HDAC2 were significantly enriched within TS DMRs and these genes have been linked to increased risk of congenital heart disease (Zaidi et al., 2013).