Table 1.
Clinical Data for 5 Pedigrees Carrying SCN5A Mutations
| Subject | Pedigree ID* | Sex | Age at Onset, yrs† | Age at Diagnosis, yrs† | NYHA Functional Class | Symptoms | Arrhythmia | Conduction System Disease | LVEF, % | LVEDD, cm | Coronary Angiogram | Outcome | Follow-Up‡ |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| II-1 | R222Q | M | 25 | 26 | 1 | Palpitations | NSR, PVC >1,000/h, NSVT, PAC | No | 34 | 66 | NL | Stable, LVEF 46% | 172 |
| II-2 | R222Q | M | 17 | 19 | 1 | Tachycardia | AA, AF, PVC >1,400/h, NSVT >100 runs/h | No | 37 | 65 | NL | NYHA functional class II, LVEF 35%, ICD | 177 |
| III-1 | F1520L | M | 25 | 26 | 1 | Asymptomatic | NSR, PVC >100 runs/h, NSVT, PAC | No | 35 | 81 | N/A | ICD, transplant (38 yrs) | 138 |
| II-1 | E446K | M | 24 | 24 | 2 | DOE, fatigue, palpitations, CP | No | No | 22 | 68 | N/A | LVEF 40% | 39 |
| III-1 | V1279I | M | 20 | 50 | 1 | Asymptomatic | PAF, NSVT | LBBB | 51 | 61 | N/A | Stable, PSVT, LVEF 50%, ICD | 52 |
| II-6 | D1275N | M | 15 | 68 | 2 | DOE, syncope | AF, AFL | LAFB | (FS 23%) | N/A | N/A | Stable | 636 |
| III:4 | D1275N | M | 23 | 51 | 1 | Fatigue, syncope | AF | 3rd AVB | 50 | 55 | N/A | PM, stable | 336 |
| III:10 | D1275N | M | 22 | 41 | 1 | Palpitations | SSS, AF | 3rd AVB | 74 | 47 | N/A | PM, AV nodal ablation | 180 |
| III:14 | D1275N | M | 29 | 41 | 2 | Fatigue, palpitations | SSS, AF | 2nd AVB | (FS 20%) | 48 | N/A | PM, stable | 228 |
| III:15 | D1275N | M | 34 | 47 | 1 | Palpitations | SSS, SVT, AF | 1st AVB | 51 | 52 | N/A | PM, stable | 156 |
| III:17 | D1275N | F | 24 | 45 | 2 | Palpitations | Bradycardia | NL | (FS 30%) | N/A | N/A | Stable | |
| IV:2 | D1275N | M | 17 | 24 | 1 | Syncope | PVC, VT | 1st AVB, RBBB | 80 | 47 | N/A | PM, stable | 84 |
| IV:8 | D1275N | F | 14 | 20 | 1 | Syncope | SSS, AS, AF, SVT | RBBB | 56 | 35 | N/A | PM, stable | 72 |
| IV:9 | D1275N | F | 16 | 16 | 2 | DOE, palpitations, syncope | AF, AS | N/A | 50 | N/A | N/A | PM, DOE | 48 |
| IV:10 | D1275N | F | 13 | 18 | 1 | Palpitations | SSS | N/A | 58 | 44 | N/A | PM, stable | 60 |
Pedigree identifier (ID) identifies dilated cardiomyopathy (DCM) family by related SCN5A mutation and correlates to Figure 1, or in the case of D1275N, to the pedigree as previously reported (7).
Age in years.
Follow-up is months after diagnosis.
AA = atrial arrhythmias; AF = atrial fibrillation; AFL = atrial flutter; AS = atrial standstill; AVB = atrioventricular block; CP = chest pain; DOE = dyspnea on exertion; FS = fractional shortening; LAFB = left anterior fascicular block; LBBB = left bundle branch block; LVEDD = left ventricular end-diastolic dimension; LVEF = left ventricular ejection fraction; N/A = not available; NL = normal (absence of symptoms); No = no arrhythmia present; NSR = normal sinus rhythm; NSVT = nonsustained ventricular tachycardia; PAC = premature atrial contraction; PAF = paroxysmal atrial fibrillation; PM = pacemaker; PSVT = paroxysmal supraventricular tachycardia; PVC = premature ventricular contraction; RBBB = right bundle branch block; SSS = sick sinus syndrome; SVT = supraventricular tachycardia; VT = ventricular tachycardia.