Table 5.
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 |