RAS-MAPK signalling pathway mutation and incidence of cardiac defect(s)
| Gene mutation | Total no. | Sex: F | PS | ASD | HCM | VSD | PDA | MVP | Ao root dil | Sub-AS | AS | Coarct | TOF | No CHD |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| PTPN11 | 89 | 39 | 64 | 36 | 9 | 17 | 8 | 5 | 7 | 3 | 1 | 12 | ||
| SOS1 | 25 | 9 | 17 | 3 | 4 | 1 | 2 | 3 | 1 | 1 | 5 | |||
| BRAF | 8 | 4 | 4 | 2 | 1 | 3 | ||||||||
| RAF1 | 7 | 2 | 1 | 3 | 6 | 3 | ||||||||
| KRAS | 3 | 2 | 1 | 2 | ||||||||||
| SHOC2 (exon 2) | 3 | 1 | 3 | 1 | 1 | |||||||||
| Unknown | 158 | 59 | 80 | 47 | 26 | 16 | 15 | 9 | 7 | 6 | 6 | 6 | 4 | 34 |
| Total | 293 | 116 | 166 | 94 | 47 | 35 | 26 | 17 | 14 | 11 | 7 | 7 | 5 | 56 |
Ao root dil, aortic root dilation; AS, valvar aortic stenosis; CHD, congenital heart disease; Coarct, coarctation; MVP, mitral valve prolapse; PDA, patent ductus arteriosus; PS, pulmonary stenosis; Sub-AS, subaortic stenosis; TOF, tetralogy of Fallot.