. 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 4.

Phenotypic heterogeneity: the same genetic abnormality causes different heart defects

Gene	CVMs in genetic mouse models
TGFB2	VSD, TAA, BAV
NKX2-5	VSD, AVSD, ASD
GATA4	ASD, VSD, AVSD
TBX1	AVSD, VSD,
TBX20	VSD, AVSD, ASD
BMP4	VSD, AVSD, ASD
GATA6	VSD, AVSD, ASD
ZIC3	Heterotaxy, d-TGA, DORV, AVSD, other heterotaxy spectrum heart defects
JAG1	PS, ASD, TOF
GDF1	DORV, TOF, d-TGA
TBX5	ASD, VSD
Trisomy 21	ASD, VSD, PDA
45, X	BAV, HLHS, CoA
22q11.2 deletion	TOF, VSD, IAA type B

ASD, atrial septal defect; AVSD, atrioventricular septal defect; BAV, bicuspid aortic valve; CoA, coarctation of the aorta; DORV, double outlet right ventricle; d-TGA, d-transposition of the great arteries; HLHS, hypoplastic left heart syndrome; IAA, interrupted aortic arch type A; PDA, patent ductus arteriousus; PS, pulmonic stenosis; TAA, thoracic aortic aneurysm; TOF, tetralogy of Fallot; VSD, ventricular septal defect