Clinical characteristics of all carriers of KCNQ1 mutations according to location (S6 vs. all other gene regions) and coding type (missense vs. non-missense)
| . | p.A341V (n = 277) . | p.A341-neighbouring (n = 139) . | All other LQT1 (n = 900) . | P-value . | ||
|---|---|---|---|---|---|---|
| . | . | Missense . | Non-missense . | Missense . | Non-missense . | . |
| Patients, n | 277 | 91 | 48 | 614 | 286 | |
| Families, n | 48 | 23 | 20 | 247 | 112 | |
| Females, n (%) | 148 (53) | 49 (54) | 24 (50) | 342 (56) | 169 (59) | 0.615 |
| Follow-up (years),a median (IQR) | 29 (14–52) | 27 (15–48) | 23 (13–45) | 31 (16–48) | 37 (20–49) | 0.08 |
| QTc (ms), mean ± SD (n) | 490 ± 44 (232) | 477 ± 33 (85) | 478 ± 31 (43) | 467 ± 41 (585) | 458 ± 30 (273) | <0.001 |
| ≤440 ms, n (%) | 19 (8) | 10 (12) | 2 (5) | 151 (26) | 82 (30) | <0.001 |
| >500 ms, n (%) | 77 (33) | 16 (19) | 8 (19) | 84 (14) | 15 (5.5) | <0.001 |
| Clinical status, n (%) | <0.001 | |||||
| Symptomatic | 202 (73) | 39 (43) | 27 (56) | 122 (20) | 36 (13) | <0.001 |
| Possibly asymptomatic | 32 (12) | 23 (25) | 14 (29) | 185 (30) | 73 (25) | <0.001 |
| Truly asymptomatic | 43 (15) | 29 (32) | 7 (15) | 307 (50) | 177 (62) | <0.001 |
| Age at first event (years), median (IQR) | 6 (5–9) | 8 (5–11) | 7 (5–11) | 10 (6–17) | 22 (13–28) | <0.001 |
| CA/SCD, n (%) | 78 (28) | 7 (8) | 7 (15) | 28 (5) | 9 (3) | <0.001 |
| . | p.A341V (n = 277) . | p.A341-neighbouring (n = 139) . | All other LQT1 (n = 900) . | P-value . | ||
|---|---|---|---|---|---|---|
| . | . | Missense . | Non-missense . | Missense . | Non-missense . | . |
| Patients, n | 277 | 91 | 48 | 614 | 286 | |
| Families, n | 48 | 23 | 20 | 247 | 112 | |
| Females, n (%) | 148 (53) | 49 (54) | 24 (50) | 342 (56) | 169 (59) | 0.615 |
| Follow-up (years),a median (IQR) | 29 (14–52) | 27 (15–48) | 23 (13–45) | 31 (16–48) | 37 (20–49) | 0.08 |
| QTc (ms), mean ± SD (n) | 490 ± 44 (232) | 477 ± 33 (85) | 478 ± 31 (43) | 467 ± 41 (585) | 458 ± 30 (273) | <0.001 |
| ≤440 ms, n (%) | 19 (8) | 10 (12) | 2 (5) | 151 (26) | 82 (30) | <0.001 |
| >500 ms, n (%) | 77 (33) | 16 (19) | 8 (19) | 84 (14) | 15 (5.5) | <0.001 |
| Clinical status, n (%) | <0.001 | |||||
| Symptomatic | 202 (73) | 39 (43) | 27 (56) | 122 (20) | 36 (13) | <0.001 |
| Possibly asymptomatic | 32 (12) | 23 (25) | 14 (29) | 185 (30) | 73 (25) | <0.001 |
| Truly asymptomatic | 43 (15) | 29 (32) | 7 (15) | 307 (50) | 177 (62) | <0.001 |
| Age at first event (years), median (IQR) | 6 (5–9) | 8 (5–11) | 7 (5–11) | 10 (6–17) | 22 (13–28) | <0.001 |
| CA/SCD, n (%) | 78 (28) | 7 (8) | 7 (15) | 28 (5) | 9 (3) | <0.001 |
CA, cardiac arrest; IQR, interquartile range; LQT1, long QT syndrome type 1; SCD, sudden cardiac death; SD, standard deviation.
From birth to last contact.
Clinical characteristics of all carriers of KCNQ1 mutations according to location (S6 vs. all other gene regions) and coding type (missense vs. non-missense)
| . | p.A341V (n = 277) . | p.A341-neighbouring (n = 139) . | All other LQT1 (n = 900) . | P-value . | ||
|---|---|---|---|---|---|---|
| . | . | Missense . | Non-missense . | Missense . | Non-missense . | . |
| Patients, n | 277 | 91 | 48 | 614 | 286 | |
| Families, n | 48 | 23 | 20 | 247 | 112 | |
| Females, n (%) | 148 (53) | 49 (54) | 24 (50) | 342 (56) | 169 (59) | 0.615 |
| Follow-up (years),a median (IQR) | 29 (14–52) | 27 (15–48) | 23 (13–45) | 31 (16–48) | 37 (20–49) | 0.08 |
| QTc (ms), mean ± SD (n) | 490 ± 44 (232) | 477 ± 33 (85) | 478 ± 31 (43) | 467 ± 41 (585) | 458 ± 30 (273) | <0.001 |
| ≤440 ms, n (%) | 19 (8) | 10 (12) | 2 (5) | 151 (26) | 82 (30) | <0.001 |
| >500 ms, n (%) | 77 (33) | 16 (19) | 8 (19) | 84 (14) | 15 (5.5) | <0.001 |
| Clinical status, n (%) | <0.001 | |||||
| Symptomatic | 202 (73) | 39 (43) | 27 (56) | 122 (20) | 36 (13) | <0.001 |
| Possibly asymptomatic | 32 (12) | 23 (25) | 14 (29) | 185 (30) | 73 (25) | <0.001 |
| Truly asymptomatic | 43 (15) | 29 (32) | 7 (15) | 307 (50) | 177 (62) | <0.001 |
| Age at first event (years), median (IQR) | 6 (5–9) | 8 (5–11) | 7 (5–11) | 10 (6–17) | 22 (13–28) | <0.001 |
| CA/SCD, n (%) | 78 (28) | 7 (8) | 7 (15) | 28 (5) | 9 (3) | <0.001 |
| . | p.A341V (n = 277) . | p.A341-neighbouring (n = 139) . | All other LQT1 (n = 900) . | P-value . | ||
|---|---|---|---|---|---|---|
| . | . | Missense . | Non-missense . | Missense . | Non-missense . | . |
| Patients, n | 277 | 91 | 48 | 614 | 286 | |
| Families, n | 48 | 23 | 20 | 247 | 112 | |
| Females, n (%) | 148 (53) | 49 (54) | 24 (50) | 342 (56) | 169 (59) | 0.615 |
| Follow-up (years),a median (IQR) | 29 (14–52) | 27 (15–48) | 23 (13–45) | 31 (16–48) | 37 (20–49) | 0.08 |
| QTc (ms), mean ± SD (n) | 490 ± 44 (232) | 477 ± 33 (85) | 478 ± 31 (43) | 467 ± 41 (585) | 458 ± 30 (273) | <0.001 |
| ≤440 ms, n (%) | 19 (8) | 10 (12) | 2 (5) | 151 (26) | 82 (30) | <0.001 |
| >500 ms, n (%) | 77 (33) | 16 (19) | 8 (19) | 84 (14) | 15 (5.5) | <0.001 |
| Clinical status, n (%) | <0.001 | |||||
| Symptomatic | 202 (73) | 39 (43) | 27 (56) | 122 (20) | 36 (13) | <0.001 |
| Possibly asymptomatic | 32 (12) | 23 (25) | 14 (29) | 185 (30) | 73 (25) | <0.001 |
| Truly asymptomatic | 43 (15) | 29 (32) | 7 (15) | 307 (50) | 177 (62) | <0.001 |
| Age at first event (years), median (IQR) | 6 (5–9) | 8 (5–11) | 7 (5–11) | 10 (6–17) | 22 (13–28) | <0.001 |
| CA/SCD, n (%) | 78 (28) | 7 (8) | 7 (15) | 28 (5) | 9 (3) | <0.001 |
CA, cardiac arrest; IQR, interquartile range; LQT1, long QT syndrome type 1; SCD, sudden cardiac death; SD, standard deviation.
From birth to last contact.
This PDF is available to Subscribers Only
View Article Abstract & Purchase OptionsFor full access to this pdf, sign in to an existing account, or purchase an annual subscription.
