Table 2. Clinical and Genetic Characteristics of Affected Probands.
| No. | General Information |
Symptom | Arrhythmia | Genetic Rare Variants |
ECG | Treatme nt |
|||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Age for Dx (y/o ) |
Sex | FH* | Sync ope |
SCD | Ch est pai n |
Other† | BrS/ERS | ER Pattern other than V1-V3 |
CCD | Brady cardia |
VT/VF | AF |
SCN10 A |
Othe r suspe cted gene |
H R (b pm ) |
PR (m s) |
Q RS (m s) |
Q T (m s) |
Q Tc (m s) |
||
| 1 | 65 | M | N | N | N | N | Y | BrS (Spontaneous BrS/RBBB) | N | Y (IAVB) | N | Y (induced) | N | N1715T | N | 71 | 220 | 72 | 426 | 463 | ICD |
| 2 | 50 | F | Y | N | N | Y | Y | BrS (Spontaneous) | I, avL | Y (IAVB) | N | N | N | R14L | N | 73 | 234 | 112 | 402 | 443 | |
| 3 | 42 | F | N | Y | N | Y | Y | BrS (Spontaneous) | N | N | N | Y (induced) | N | F938YFSX12 | N | 68 | 160 | 120 | 400 | 426 | ICD |
| 4 | 44 | M | N | Y | N | N | N | BrS (Spontaneous) | N | N | N | Y (induced) | N | G1662S | N | 79 | 190 | 120 | 380 | 436 | Quinidine |
| 5 | 20 | M | N | Y | Y | N | N | BrS/ERS3 (Spontaneous/Procainamide+) | II, III, avF | N | N | N | N | S242T | N | 67 | 170 | 105 | 376 | 396 | |
| 6 | 19 | M | N | N | N | Y | N | BrS (Procainamide+) | N | N | N | Y (induced) | N | R14L | N | 66 | 185 | 113 | 397 | 416 | |
| 7 | 36 | M | N | N | N | N | Y | BrS (Ajmaline+) | N | N | N | Y (spontaneous) | N | G1406D | N | 73 | 150 | 110 | 400 | 442 | ICD |
| 8 | 19 | M | Y | Y | Y | Y | Y | BrS/ERS3 (Flecainide+) | II, III, avF, V4-V6 | Y (IAVB) | Y | Y (spontaneous) | N | G1662S | N | 44 | 200 | 120 | 410 | 352 | |
| 9 | 39 | M | N | Y | N | N | N | BrS(Ajmaline+) | I, avL | N | N | N | N | I206M/V1697I | N | 78 | 168 | 80 | 340 | 388 | |
| 10 | 46 | M | N | Y | N | N | Y | BrS (Procainamide+) | N | N | N | N | Y | S1337T | N | 69 | 148 | 105 | 418 | 448 | |
| 11 | 37 | M | N | N/A | N/A | N/A | N/A | BrS (Ajmaline+) | N | Y (I AVB) | N | N | N | T137M | N | 59 | 205 | 72 | 350 | 348 | |
| 12 | 49 | F | Y | Y | N | N | Y | BrS (Spontaneous) | N | Y (IAVB) | N | Y (spontaneous) | N | R1268Q | N | 79 | 170-200 | 102 | 380 | 436 | ICD |
| 13 | 44 | M | N/A | N | N | N | Y | BrS (fever+) | N | N | N | N | N | I1225T | N | 80 | 180 | 110 | 350 | 404 | |
| 14 | 27 | M | N | N | Y | N | N | BrS (fever+) | N | Y (IAVB) | N | Y (during fever) | N | G1662S | N | 120 | 220 | 120 | 300 | 387 | ICD, Metoprolol |
| 15 | 44 | M | N | Y | N | N | N | BrS (fever+) | N | Y (IAVB) | N | Y (during fever) | N | I1225T | N | 103 | 200 | 116 | 400 | 525 | ICD |
| 16 | 56 | M | N/A | N | N | N | Y | BrS (fever+) | N | N | N | N | N | L388P | N | 86 | 180 | 112 | 350 | 418 | |
| 17 | 31 | M | Y | N | N | N | N | BrS (Ajmaline+) | N | Y (IAVB) | N | Y (induced) | N | V1697I | N | 75 | 200 | 120 | 360 | 403 | |
| 18 | 65 | M | Y | Y | Y | N | N | BrS/ERS3 (Spontaneous) | II, III, avF | N | Y | Y (spontaneous) | N | R14L | N | 54 | 194 | 94 | 400 | 378 | ICD, Amiodarone |
| 19 | 49 | M | N/A | N | N | N | Y | BrS (fever+) | AvL | N | N | N | N | R14L | N | 88 | 130 | 110 | 340 | 411 | |
| 20 | 58 | M | N | Y | N | N | N | BrS (Ajmaline+) | N | Y (IAVB) | N | N | N | I206M/V1697I | CAC NB2B | 84 | 210 | 100 | 344 | 408 | ICD, Metoprolol |
| 21 | 46 | F | N | N | Y | N | N | BrS/ERS3 (Spontaneous) | I, II, III, avF, V5-V6 | Y (IAVB) | Y | N | N | V620I | SCN5A | 53 | 280 | 84 | 432 | 406 | ICD |
| 22 | 65 | M | N | N | Y | N | N | BrS (Flecainide+) | N | Y (IAVB) | Y | Y (spontaneous) | N | F386C | CACNA1C | 55 | 200 | 116 | 484 | 464 | ICD |
| 23 | 28 | M | N | N | N | Y | N | BrS (Spontaneous/Procainamide+) | N | Y (IAVB) | N | N | N | D1080N | SCN5A | 71 | 240 | 158 | 376 | 409 | ICD |
| 24 | 43 | M | N | N | Y | N | Y | BrS (Procainamide+) | N | N | N | N | Y | R1869C | KCNJ8 | 64 | 192 | 84 | 372 | 385 | |
| 25 | 47 | F | N | N | N | N | Y | BrS/ERS3 (Ajmaline+) | II, III, avF, V4-V6 | N | Y | N | N | R1869C | CACNB2B | 56 | 18 0 | 88 | 42 4 | 40 8 | |
| Total | 42.5 ± 13.6 | F5/M20(80%) | 5 (20%) | 10 (40%) | 7 (28%) | 5 (20%) | 12 (48%) | 25 (100%) | 8 (32%) | 12 (48%) | 5 (20%) | 12 (48%) | 2 (8%) | 25 | 72.6 ± 16.3 | 193.4 ± 31.8 | 105.7 ± 18.9 | 384.4 ± 38.67 | 416.1 ± 37.4 | ICD-11 (44.0%) | |
| SCN 10A† | 41.2 ± 13.7 | F3/M16(84%) | 5 (26%) | 9 (47%) | 4 (21%) | 4 (21%) | 10 (53%) | 19 (100%) | 6 (32%) | 8 (42%) | 2 (10%) | 11 (58%) | 1 (5%) | 19 | 75.4 ± 16.8 | 18 6.0 ± 26. 9 | 10 5.9 ± 15.6 | 37 7.8 ± 32.9 | 416.9 ± 40.9 | ICD-7 (36.4%) | |
| SCN 10A and other gene† | 47.8 ± 12.8 | F2/M4(67%) | 0 (0 %) | 1 (17%) | 3 (50%) | 1 (17%) | 2 (33%) | 6 (100%) | 2 (33%) | 4 (67%) | 3 (50%) | 1 (17%) | 1 (17%) | 6 | 63. 8 ± 12.0 | 21 7.0 ± 37.0 | 10 5.0 ± 28. 7 | 40 5.3 ± 51.0 | 413.3 ± 26.4 | ICD-4 (66.7%) | |
AF: atrial fibrillation; AVB: atrioventricular block; BrS: Brugada syndrome; CCD: cardiac conduction disease; Dx: diagnosis; ER: early repolarization; ERS3: Type 3 early repolarization syndrome; F: female; HR: heart rate; ICD: implantable cardioverter-defibrillator; M: male; RBBB: right bundle branch block; SCD: sudden cardiac death; VT/VF: ventricular tachycardia/ventricular fibrillation.
*
FH: Family history of cardiac events/unexplained sudden death.
†
Other symptoms, including palpitation, dizziness, coma, et al.