Table 1:
Clinical Features of Probands and Genotype Positive Family Members Possessing Rare KCNE1 Variants
| LQT5 | JLNS2 | ||||
|---|---|---|---|---|---|
| Clinical Variable | Overall n = 229 |
Probands n = 89 |
Genotype +ve FM n = 140 |
p value* | n = 19 |
| Age at First ECG (years) | 25.4 (19.7) | 26.8 (19.2) | 24.5 (19.9) | 0.174 | 14.6 (14.0) |
| Female (%) | 141 (61.6) | 59 (66.3) | 82 (58.6) | 0.211 | 9 (47.4) |
| European Ancestry (%) | 219 (95.6) | 83 (93.3) | 136 (97.1) | 0.016 | 16 (84.2) |
| QTc on Presenting ECG (ms) | 455.6 (38.2) | 476.9 (38.6) | 441.8 (30.9) | <0.001 | 471.1 (43.5) |
| Males | 448.5 (36.2) | 469.3 (38.2) | 437.7 (30.2) | <0.001 | 468.9 (53.5) |
| Females | 460.1 (38.8) | 480.8 (38.6) | 444.8 (31.3) | <0.001 | 473.6 (32.0) |
| Atrial Fibrillation | 7 (3.1) | 6 (6.7) | 1 (0.7) | 0.017 | 0 (0) |
| Treatment | |||||
| β-Blocker | 147 (64.2) | 70 (78.7) | 77 (55.0) | 0.001 | 8 (42.1) |
| LCSD | 5 (2.2) | 2 (2.2) | 3 (2.1) | 1.000 | 1 (5.3) |
| ICD | 28 (12.2) | 23 (25.8) | 5 (3.6) | <0.001 | 0 (0) |
| Cardiac Event | |||||
| Syncope | 31 (13.5) | 25 (28.1) | 6 (4.2) | <0.001 | 3 (15.8) |
| Appropriate ICD Shock | 4 (1.8) | 3 (3.4) | 1 (0.7) | 0.304 | 0 (0) |
| Aborted Cardiac Arrest | 12 (5.2) | 12 (13.5) | 0 (0) | <0.001 | 1 (5.3) |
| Sudden Cardiac Death | 4 (1.8) | 3 (3.4) | 1 (0.7) | 0.304 | 1 (5.3) |
| CAO with Syncope | 45 (19.7) | 37 (41.6) | 8 (5.7) | <0.001 | 4 (21.1) |
| CAO Without Syncope | 17 (7.4) | 15 (16.9) | 2 (1.4) | <0.001 | 2 (10.5) |
Data are n (%) or mean (SD).
*
p-value compares LQT5 probands and family members. LQT5 = Type 5 Long QT syndrome, JLNS2 = Type 2 Jervell and Lange-Nielsen Syndrome, Genotype +ve FM = genotype positive family members, ms = milliseconds, LCSD = left cardiac sympathetic denervation, ICD = implantable cardioverter defibrillator, CAO = composite arrhythmic outcome