Table 2.
Clinical characteristics of SCN5A-channelopathy pediatric patients.
| Case | Variant | Sex | Age of Onset | Syncope | Seizures | Device | NFCA | SCD | Arrhythmogenic Phenotype | SVT | VA | AVB | RBBB, LBBB | AS | MaxQTc (ms) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 1 | p.Ser1710Leu | M | 14 | - | - | PM | - | - | SSS, PCCD | aFL, CTI-D | - | 3rd D | - | - | 488 * |
| 2 | p.Ser1710Leu | M | 2 | Yes | - | PM | - | - | SSS | - | - | - | RBBB | - | 682 * |
| 3 | p.Ser1710Leu | M | 15 | - | - | - | - | - | BrS | AF, aFL, CTI-D | - | 1st D | - | - | 413 |
| 4 | p.Asp1275Asn | M | 17 | - | - | PM | - | - | SSS | - | - | 3rd D | RBBB, LBBB | Yes | 476 * |
| 5 | p.Arg893His | M | 15 | Yes | - | PM | - | - | SSS, VT | aFL, CTI-D | SMVT | 3rd D | RBBB | Yes | 542 * |
| 6 | p.Thr1708Asn | M | 6 | Yes | - | PM | - | - | SSS, PCCD, VT, BrS | AF, aFL, AT | SMVT | - | RBBB, LBBB | - | 503 * |
| 7 | p.Thr1708Asn | M | 10 | - | - | PM | - | Yes | SSS, PCCD, VT | aFL | SMVT | 1st D | RBBB, LBBB | - | 481 * |
| 8 | p.Trp1345_Ser1349delinsPhe/ p.Pro1730Leu |
F | 3 | Yes | - | PM | Yes | - | SSS, PCCD, VT, BrS | AF, aFL | SMVT, PVT | 3rd D | RBBB, LBBB | Yes | 495 * |
| 9 | p.Leu1821fs *10 | M | 12 | - | - | PM | Yes | Yes | SSS, PCCD, VT | aFL | SMVT | 2nd D | RBBB | - | 550 * |
| 10 | p.Arg34fs *60/ p.Arg1195His |
M | 22mo | Yes | Yes | -. | Yes | Yes | VT, LQTS | - | SMVT, VF | - | - | - | 519 |
| 11 | p.Gly1661Arg | M | 2 | Yes | Yes | ICD | Yes | - | SSS, VT, BrS | - | SMVT, VF | - | RBBB | - | 500 * |
| 12 | p.Arg893His | M | 17 | Yes | - | - | Yes | Yes | BrS | - | VF | - | - | - | 402 |
| 13 | p.Asp1741Glyfs *48/ p.Val240Met |
M | 4 | Yes | - | PM | - | - | SSS, PCCD, VT | AF | SMVT | 1st D | RBBB | - | 630 * |
| 14 | p.Arg1644His | F | 16 | Yes | - | - | - | - | LQTS | AT | - | - | - | - | 520 |
| 15 | p.Arg811Cys | M | 4 | - | - | PM | - | - | SSS, PCCD, VT, BrS | aFL | SMVT | 3rd D | RBBB, LBBB | Yes | 519 * |
| 16 | p.Ala1778Asp | M | 4 | Yes | Yes | - | - | - | SSS, VT | AF | PVT, TdP | 1st D | RBBB | Yes | 529 * |
| 17 | p.Arg1632Cys | M | 3 | - | Yes | PM | - | Yes | SSS, PCCD, VT | AF | SMVT | - | RBBB, LBBB | - | 462 * |
NFCA: Non-fatal cardiac arrest; SCD: Sudden cardiac death; SVT: Supraventricular tachycardia; VA: Ventricular arrhythmia; AVB: Atrioventricular block; RBBB: Right bundle branch block; LBBB: Left bundle branch block; AS: Atrial standstill; MaxQTc: maximum corrected QT interval; SSS: Sick sinus syndrome; PCCD: Progressive cardiac conduction disease; VT: idiopathic ventricular tachycardia; BrS: Brugada syndrome; LQTS: long QT syndrome; PM: pacemaker; ICD: Implantable cardioverter defibrillator; AF: Atrial fibrillation; aFL: Atrial flutter; CTI-D: cavotricuspid isthmus-dependent atrial flutter. AT: atrial tachycardia; SMVT: Sustained monomorphic ventricular tachycardia; PVT: polymorphic ventricular tachycardia; FV: ventricular fibrillation; TdP: Torsade de points. * Prolonged QTc interval secondary to intraventricular conduction defect or AV block. Cases 9 and 10 were previously published [27,29].