. 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 5.

Locus heterogeneity: the same CVM results from distinct genetic loci

CVM Type	Examples of genetic etiologies
BAV	TGFB signaling pathway single gene mutations, aneuploidy (45,X)
VSD	TGFB and BMP signaling pathway single gene mutations, aneuploidy (45,X; Trisomy 21), 22q11.2 deletion
DORV	GDF1, TBX1, 22q11.2 deletion
AVSD	ACVR2, NKX2-5, GATA4, 22q11.2 deletion, aneuploidy (Trisomy 21)
PS	JAG1, NOTCH2
TOF	JAG1, NOTCH2, 22q11.2 deletion
MVP	TGFB2, FBN1, FLNA
TAA	TGFB signaling pathway single gene mutations, MYH11, ACTA2, MYLK1, FBN1,
HCM	Rasopathy gene mutations Sarcomeric gene mutation