From: Clinical and functional characterisation of a recurrent KCNQ1 variant in the Belgian population
 | c.1124_1127delTTCA/p.(Ile375Argfs*43) | c.332A > G/p.(Tyr111Cys) [11] | c.1022C > T/p.(Ala341Val) [8] | c.1522C > T/p.(Arg518*) [12] | LQTS1/Non-p.(Ile375Argfs*43) | LQTS1/Non-(p.Ala341Val) |
---|---|---|---|---|---|---|
Female gender | 22/41 (54%) | 44/80 (55%) | 132/244 (54%) | 54/86 (63%) | 15/19 (79%) | 122/205 (60%) |
Median FU, year (IQR) | 45 (17–57) | 23 (11–43) | 30 (15–51) | NA | 27 (11–43) | 32 (14–46) |
Mean age at last FU ± S.E.M. (y) | 41 ± 22 | 28 ± 20 | NA | 29 ± 23 | 27 ± 18 | NA |
SCD | 1/41 (2%) | 1/80 (1%) | NA | 1/86 (1%) | 1/19 (5%) | NA |
SCD < 40 y | 1/41 (2%) | 1/80 (1%) | 74/244 (30%)*** | NA | 1/19 (5%) | 14/205 (7%) |
Symptomatic | 3/41 (7%) | 27/80 (34%)** | NA | 15/86 (17%) | 6/19 (32%)** | NA |
Symptomatic < 40 y | 2/41 (5%) | 24/80 (30%)*** | 184/244 (75%)*** | NA | 6/19 (32%)** | 49/205 (24%)** |
QTc ≥ 500 ms | 6/40 (15%) | 19/78 (24%) | 45/153 (29%) | 20/81 (25%) | 7/19 (37%) | 26/190 (14%) |
QTc ≤ 440 ms | 13/40 (33%) | 8/78 (10%)** | 16/153 (10%)** | 13/81 (16%) | 3/19 (16%) | 45/190 (24%) |