TableĀ 1

Dysregulated miRNA expression in CHD

Type of CHDmiRNASourceLevel of expressionRole in cardiac function
VSDhsa-miR-222-3pPlasmaDownregulatedRegulation of the target gene GATA4 transcription factor, essential in heart development
hsa-miR-433PlasmaDownregulatedModulation of GATA3 and NOTCH1 related to ventricular development
hsa-miR-487bPlasmaDownregulatedRemodelling of the aorta by targeting the vasoactive insulin receptor substrate 1 in arterial wall
Has-miR-155-5pPlasmaDownregulatedUnknown. Levels dysregulated in hypertrophic cardiomyopathy
TOFmiR-421RV tissueUpregulatedInverse correlation with SOX4 expression, a key regulator of NOTCH and Wnt pathways, which regulate heart development
miR-222MyocardiumUpregulatedRegulation of target genes NKX 2.5, TBX5, GATA4, MHC involved in cardiomyocyte differentiation
miR424-424*MyocardiumUpregulatedInvolvement in cell migration, cardiac morphogenesis and outflow tract septation by targeting NF1 and HAS2 genes
TOF, ASD, VSDmiR196a2MyocardiumUpregulatedUpstream regulator of HOXB8 and Sonic Hedgehog (Shh) pathway, required throughout cardiac septation to valve formation
  • CHD, congenital heart disease; TOF, tetralogy of Fallot.