Case | Sex | Age HCM Diagnosed (months) | Clinical phenotype | LVOTO | Associated cardiac defect | Gene Mutation | Origin of mutation | ACMG classification | Follow-up time (years) |
---|---|---|---|---|---|---|---|---|---|
01 | M | 1.7 | NSML | + | ASD | PTPN11, c.836A > G (p.Y279C) | De novo | Pathogenic | 7.1 |
02 | M | 12 | NSML | + | – | PTPN11, c.836A > G (p.Y279C) | De novo | Pathogenic | 15.2 |
03 | M | 1.0 | NSML | – | PVS | PTPN11, c.836A > G (p.Y279C) | De novo | Pathogenic | 1.4 |
04 | F | 2 d | NS | + | – | PTPN11, c.836A > G (p.Y279C) | De novo | Pathogenic | 1.2 |
05 | M | 6.0 | NS | – | – | PTPN11, c.836A > G (p.Y279C) | De novo | Pathogenic | 0.5 |
06 | F | 10 | NS | – | ASD, PVS | PTPN11, c.854 T > C (p.F285S) | De novo | Pathogenic | 1.6 |
07 | M | 3 d | – | – | ASD | PTPN11, c.1391G > C (p.G464A) | De novo | Pathogenic | 2.0 |
08 | M | 10 | NS | + | – | PTPN11, c.1492C > T (p.R498W) | Mother | Pathogenic | 6.8 |
09 | M | Fetal | NS | + | ASD, PVS | PTPN11, c.1517A > C (p.Q506P) | De novo | Pathogenic | 4.0 |
10 | F | 8 d | NS | – | ASD, PDA | PTPN11, c.1517A > C (p.Q506P) | De novo | Pathogenic | 1.6 |
11 | M | 17 d | NS | – | ASD, PVS | PTPN11, c.1517A > C (p.Q506P) | De novo | Pathogenic | Die at 6.0 ms old |
12 | F | Fetal | NS | + | – | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 4.9 |
13 | F | 2.5 | – | + | ASD | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | Die at 3.0 ms old |
14 | M | 1.0 | NS | + | – | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 8.3 |
15 | F | 1.5 | NS | + | PVS | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 3.9 |
16 | M | 1 d | NS | + | VSD | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 0.7 |
17 | M | 1 d | NS | + | VSD | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | Die at 3.5 ms old |
18 | M | 3 d | NS | + | – | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 2.0 |
19 | F | 1.3 | NS | + | – | PTPN11, c.1528C > G (p.Q510E) | De novo | Pathogenic | 9.3 |
20 | F | 9.0 | NS | + | ASD, PVS | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 3.9 |
21 | F | 8.0 | NSML | + | – | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 13.1 |
22 | M | 12 | NS | – | VSD, ASD | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 1.8 |
23 | M | 2 d | NS | – | ASD | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 1.1 |
24 | F | 30 | NS | – | ASD | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 6.5 |
25 | M | 6.0 | NS | + | ASD, PVS | RAF1, c.770C > T (p.S257 L) | De novo | Pathogenic | 1.2 |
26 | F | 4.0 | NS | – | DORV, VSD, ASD, PVS | RAF1, c.781C > A (p.P261T) | De novo | Pathogenic | 3.6 |
27 | F | 5.5 | NS | – | – | RAF1 c.786 T > G (p.N262K) a | De novo | Pathogenic | 7.4 |
28 | F | 12 | NS | + | ASD | RAF1 , c.788 T > G (p.V263G) a | De novo | Pathogenic | 1.1 |
29 | M | 17 | NS | + | – | RAF1, c.1472C > T (p.T491I) | NA | Pathogenic | 1.3 |
30 | M | 8.1y | NS | – | ASD | RAF1,c.1837C > G (p.L613 V) | De novo | Pathogenic | 3.7 |
31 | F | 16 d | NS | – | ASD, PVS | KRAS, c.101C > T (p.P34L) | De novo | Pathogenic | 0.9 |
32 | M | 34 | NS | – | ASD, LSVC | KRAS, c.178G > A (p.G60S) | De novo | Pathogenic | 2.0 |
33 | M | 2.0 | NS | – | – | KRAS, c.458A > T (p.D153V) | De novo | Pathogenic | 3.0 |
34 | M | 15 d | NS | – | ASD, PDA | KRAS, c.458A > T (p.D153V) | De novo | Pathogenic | 0.9 |
35 | F | 16 | NS | – | ASD, PVS | KRAS, c.458A > T (p.D153V) | De novo | Pathogenic | 0.8 |
36 | F | 3.0 | NS | – | ASD, PVS | RIT1, c.170C > G (p.A57G) | De novo | Pathogenic | 0.9 |
37 | F | 17 | NS | – | ASD, PVS, PDA | RIT1, c.170C > G (p.A57G) | De novo | Pathogenic | 1.4 |
38 | F | 6.8 | NS | – | ASD, PVS,VSD | RIT1, c.170C > G (p.A57G) | De novo | Pathogenic | 4.0 |
39 | M | 2.4 | NS | – | ASD, PVS | RIT1, c.270G > C (p.M90I) | De novo | Pathogenic | 4.2 |
40 | M | 3.5 | CFCS | – | – | BRAF, c.770A > G (p.Q257R) | De novo | Pathogenic | 0.9 |
41 | F | 5.0 | CFCS | – | ASD, PVS | BRAF, c.1502A > G (p.E501G) | De novo | Pathogenic | 0.6 |
42 | F | 5.0 | CFCS | – | VSD | BRAF , c.1796C > T (p.T599I) a | De novo | Pathogenic | 3.7 |
43 | M | 6.0y | NS | + | – | SOS1 c.1644 T > G (p.S548R) | De novo | Pathogenic | 7.4 |
44 | M | 3.0 | NS | + | ASD | SOS1, c.2536G > A (p.E846K) | De novo | Pathogenic | 17.1 |
45 | M | 3.0 | CS | – | ASD, PVS | HRAS, c.179G > A (p.G60D) | De novo | Pathogenic | 3.8 |
46 | M | 3.0 | NS/LAH | – | – | SHOC2, c.4A > G (p.S2G) | De novo | Pathogenic | 2.7 |
47 | M | 1.0 | NS | + | ASD | LZTR1 , c.509G > C(p.R170P) a LZTR1 , c.2374 T > G(p.C792G) a | Mother Father | Likely pathogenic Likely pathogenic | 4.2 |