Fig. 6

Common congenital heart defects and pathogenic mechanisms. Ventricular septal defect is a defect in the ventricular septum involving the loss of functions of various TFs, GFs, Notch signaling, RA signaling, etc.; atrial septal defect is a defect in the atrial septum, involving the loss of functions of various TFs, GFs, WNT signaling, RA signaling, etc; bicuspid aortic valve is a pathological condition where the aortic valve has only two leaflets instead of the normal three, involving the loss of functions of TGF-β signaling, Notch signaling, various TFs, etc.; mitral valve prolapse is a pathological condition where the mitral valve does not close properly, involving the loss of functions of TGF-β signaling, ECM signaling, FBN1, etc.; patent ductus arteriosus is a pathological condition in which the ductus arteriosus fails to close after birth, allowing a portion of oxygenated blood from the left heart to flow back to the lungs through the aorta, involving the loss of functions of TFAP2B, prostaglandin signaling, Notch signaling, etc.; tetralogy of Fallot includes ventricular septal defects, overriding of the aorta, right ventricular outflow obstruction and right ventricular hypertrophy, involving the loss of functions of various TFs, Notch signaling, VEGF signaling, etc.; double-outlet right ventricle is the defect that both the pulmonary artery and the aorta arise from the right ventricle instead of their normal positions, involving the loss of functions of various TFs, RA signaling, Notch signaling, etc.; transposition of the great arteries is a pathological condition where the pulmonary artery and aorta are switched in position, causing oxygen-rich blood from the lungs is pumped back to the lungs instead of being circulated to the rest of the body, and oxygen-poor blood from the body is pumped back to the body instead of being sent to the lungs to pick up oxygen, involving the loss of functions of cilia, various TFs, Nodal signaling, etc.; persistent truncus arteriosus is a pathological condition characterized by single large vessel arising from the heart that supplies blood to both the systemic and pulmonary circulations, involving the loss of functions of various TFs, RA signaling, Nodal signaling, etc.; hypoplastic left heart syndrome presents with different degrees of stenosis or atresia of the aortic and mitral valve along with hypoplasia of the left ventricle and ascending aorta involving the loss of functions of various TFs, Notch signaling, ECM signaling, etc. ECM extracellular matrix, FBN1 fibrillin 1, FLNA filamin A, FOG2 friend of GATA 2, GATA GATA binding protein, GFs Growth factors, HAND1 heart and neural crest derivatives expressed 1, HOXA1 homeobox A1, ISL1 islet 1, NKX2-5 NK2 homeobox 5, PITX2 paired-like homeodomain transcription factor 2, RA retinoic acid, TBX T-box transcription factor, TFs transcription factors, TFAP2B transcription factor AP-2 beta, TGF-β transforming growth factor beta, VEGF vascular endothelial growth factor, ZIC3 Zic family member 3. This figure was created using Adobe Photoshop