Table 2.
Gene | Syndromes | Common cardiac anomalies |
---|---|---|
CHD7, SEMA3E | CHARGE syndrome | ASD, VSD, TOF |
FBN1 | Marfan syndrome | Aortic dilation |
JAG1, NOTCH2 | Alagille syndrome | PS, peripheral PS, TOF |
KMT2D | Kabuki syndrome | ASD, VSD, TOF, CoA |
PTPN11, KRAS, NRAS, HRAS, RAF1, SOS1, NF1, CBL, BRAF, SHOC2, MAP2K1, MAP2K2 |
Rasopathies: Noonan, Cardiofaciocutaneous, Costello syndromes |
PS, HCM |
SKI | Shprintzen-Goldberg syndrome | Aortic dilation |
TBX5 | Holt-Oram syndrome | ASD, VSD, AVSD, conduction system disease |
TFAP2b | Char syndrome | PDA |
TGFB2, TGFBR1, TGFBR2, SMAD3 |
Loeys-Dietz syndrome types 1–4 | Aortic dilation |
TGFB3 | Rheinhoff syndrome | Aortic dilation |
ZIC3 | X-linked heterotaxy syndrome | heterotaxy |
ASD, atrial septal defect; AVSD, atrioventricular septal defect; CoA, coarctation of the aorta; PDA, patent ductus arteriousus; PS, pulmonic stenosis; TOF, tetralogy of Fallot; VSD, ventricular septal defect