Table 1

Dysregulated miRNA expression in CHD

Type of CHD	miRNA	Source	Level of expression	Role in cardiac function
VSD	hsa-miR-222-3p	Plasma	Downregulated	Regulation of the target gene GATA4 transcription factor, essential in heart development
	hsa-miR-433	Plasma	Downregulated	Modulation of GATA3 and NOTCH1 related to ventricular development
	hsa-miR-487b	Plasma	Downregulated	Remodelling of the aorta by targeting the vasoactive insulin receptor substrate 1 in arterial wall
	Has-miR-155-5p	Plasma	Downregulated	Unknown. Levels dysregulated in hypertrophic cardiomyopathy
TOF	miR-421	RV tissue	Upregulated	Inverse correlation with SOX4 expression, a key regulator of NOTCH and Wnt pathways, which regulate heart development
	miR-222	Myocardium	Upregulated	Regulation of target genes NKX 2.5, TBX5, GATA4, MHC involved in cardiomyocyte differentiation
	miR424-424*	Myocardium	Upregulated	Involvement in cell migration, cardiac morphogenesis and outflow tract septation by targeting NF1 and HAS2 genes
TOF, ASD, VSD	miR196a2	Myocardium	Upregulated	Upstream regulator of HOXB8 and Sonic Hedgehog (Shh) pathway, required throughout cardiac septation to valve formation