Table 2.
Clinical and genetic data of the family members
| Sex | SCN5A p.P1506S | KCNH2 p.R25W | Brugada pattern on 1st ECG testing | Syncope | HR | PR msec | QTc msec | ICD | ||
|---|---|---|---|---|---|---|---|---|---|---|
| Spontaneous | After PCT | |||||||||
| II.2 Proband | M | +/− | −/− | BrS 1 | NP | + | 93 | 180–200 | 425 | + |
| II.3 | M | +/− | +/− | − | + | + | 78 | 180–200 | 404 | + |
| II.5 | M | −/− | +/− | − | Negative | + | NA | NA | NA | No |
| II.6 | F | −/− | −/− | − | NP | − | 67 | 160–180 | 428 | No |
| III.1 | M | +/− | −/− | BrS 1/BrS 2 | + | − | 78 | 200–220 | 413 | R |
| III.2 | M | −/− | −/− | − | NP | − | 89 | 160 | 395 | No |
| III.3 | F | +/− | +/− | − | Refused | − | NA | 180–200 | 390 | No |
| III.4 | F | +/− | −/− | − | Refused | − | NA | NA | NA | No |
| III.5 | M | −/− | −/− | − | R | − | 97 | 160–180 | 439 | No |
| III.6 | M | +/− | +/− | − | R | − | 65 | 160–180 | 428 | No |
| III.7 | F | −/− | +/− | − | R | − | 95 | 160–180 | 363 | No |
| III.8 | F | −/− | +/− | − | R | − | 73 | 140–160 | 404 | No |
| III.9 | M | −/− | +/− | − | + | + | 81 | 140–160 | 380 | R |
| III.10 | M | −/− | −/− | − | − | − | 100 | 180–200 | 405 | No |
BrS, Brugada syndrome; +/−, present in heterozygous state; −/−, genetic variant is absent; NA, not available; NP, not performed; R, recommended; Refused, test was recommended but refused.