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. Author manuscript; available in PMC: 2017 Mar 1.
Published in final edited form as: Clin Perinatol. 2016 Mar;43(1):39–53. doi: 10.1016/j.clp.2015.11.002

Table 2.

Examples of common syndromes with CVMs caused by single gene mutations

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