Presymptomatic diagnosis in adults
| Sex/age (y) | Familly | Family already genotyped | Gene* | Previous major event in the family† | Procedure after step 1 | Result of genetic testing | Follow up (FU in months) | Adverse psychological effect/FU | |
|---|---|---|---|---|---|---|---|---|---|
| *MYH7: beta myosin heavy chain; MYBPC3: cardiac myosin binding protein C. | |||||||||
| †At least one premature sudden death or one heart transplantation related to HCM. | |||||||||
| ‡Second degree relative and procedure stopped because first degree relative had presymptomatic testing and carried no mutation. | |||||||||
| 1 | F/28 | A | Yes | MYH7 | Yes | Continued | Mutation | 29 | No |
| 2 | F/26 | A | Yes | MYH7 | Yes | Stopped | – | – | – |
| 3 | M/33 | A | Yes | MYH7 | Yes | Continued | Mutation | 26 | No |
| 4 | F/27 | B | Yes | MYH7 | Yes | Continued | No mutation | 16 | Yes |
| 5 | F/20 | B | Yes | MYH7 | Yes | Continued | No mutation | 14 | No |
| 6 | F/54 | C | Yes | MYH7 | No | Stopped | – | – | – |
| 7 | M/48 | D | Yes | MYBPC3 | No | Continued | No mutation | 14 | No |
| 8 | M/47 | E | Yes | MYH7 | No | Continued | Mutation | 9 | No |
| 9 | M/33 | F | Yes | MYH7 | Yes | Continued | No mutation | 8 | No |
| 10 | M/66 | G | Yes | MYBPC3 | No | Continued | No mutation | 7 | No |
| 11 | F/44 | A | Yes | MYH7 | Yes | Stopped | – | – | – |
| 12 | F/37 | H | Yes | MYBPC3 | Yes | Continued | Mutation | 6 | No |
| 13 | M/20 | B | Yes | MYH7 | Yes | Stopped | – | – | – |
| 14 | M/34 | F | Yes | MYH7 | Yes | Continued | No mutation | 5 | No |
| 15 | F/65 | I | Yes | MYBPC3 | Yes | Continued | No mutation | 5 | No |
| 16 | F/64 | J | Yes | MYBPC3 | No | Continued | No mutation | 3 | No |
| 17 | M/35 | K | Yes | MYH7 | No | Stopped | – | – | – |
| 18 | F/49 | L | Yes | MYBPC3 | No | Stopped | – | – | – |
| 19 | F/39 | I | Yes | MYBPC3 | No | Stopped | – | – | – |
| 20 | M/32 | M | Yes | MYH7 | No | Continued | No mutation | 2 | No |
| 21 | M/27 | K | Yes | MYH7 | No | Continued | No mutation | 3 | No |
| 22 | M/30 | M | Yes | MYH7 | No | Continued | Mutation | 3 | No |
| 23 | F/30 | N | Yes | MYBPC3 | No | Continued | Mutation | 2 | Yes |
| 24 | M/23 | K | Yes | MYH7 | No | Continued | No mutation | 3 | No |
| 25 | F/21 | K | Yes | MYH7 | No | Stopped‡ | – | – | – |
| 26 | F/44 | K | Yes | MYH7 | No | Continued | No mutation | 2 | No |
| 27 | M/18 | K | Yes | MYH7 | No | Stopped‡ | – | – | – |
| 28 | M/64 | I | Yes | MYBPC3 | No | Continued | No mutation | 2 | No |
| 29 | F/20 | O | Yes | MYBPC3 | No | Stopped | – | – | – |