Table 1.
Characteristics of CPVT patients included in the pilot study.
| Subject | Sex | Case Status | Age at first EST | Presenting symptoms | Worst VE on EST | Worst symptom | Genetic Mutation | Therapies |
|---|---|---|---|---|---|---|---|---|
| 1 | M | Proband | 7 | Syncope | PMVT | SCA | RYR2 M1107T (heterozygous) & CASQ2 IVS5+1G>C (homozygous) | Nadolol, flecainide, ganglionectomy, defibrillator |
| 2 | F | Proband | 12 | Syncope | PMVT | Syncope | RYR2 E4183Q | Nadolol |
| 3 | F | Proband | 8 | Syncope | PMVT | Syncope | RYR2 L2200F |
Nadolol, verapamil, flecainide, defibrillator |
| 4 | M | Relative | 12 | Asymptomatic, referred for family screening | Ventricular bigeminy | Asymptomatic | RYR2 R122H | Nadolol |
| 5 | F | Relative | 12 | Asymptomatic, referred for family screening | None | Asymptomatic | RYR2 R420W | None |
| 6 | M | Relative | 10 | Asymptomatic, referred for family screening | Frequent VPBs | Asymptomatic | RYR2 R420W | Nadolol switched to Bisoprolol (intolerance) |
| 7 | F | Relative | 8 | Asymptomatic, referred for family screening | Frequent VPBs | Asymptomatic | RYR2 R420W | Nadolol |
| 8 | M | Relative | 6 | Asymptomatic, referred for family screening | Frequent VPBs | Asymptomatic | RYR2 R420W | None |
| 9 | F | Proband | 11 | Asymptomatic, screening prior to psychiatric medications | Frequent VPBs | SCA | RYR2 I4855M | Carvedilol, defibrillator |
| 10 | M | Proband | 11 | Syncope | PMVT | Syncope | RYR2 V4771I |
Nadolol switched to bisoprolol (intolerance), flecainide |
| 11 | M | Proband | 17 | Syncope | PMVT | Syncope | RYR2 R15P | Nadolol |
| 12 | M | Relative | 21 | Asymptomatic, referred for family screening | Frequent VPBs | Asymptomatic | RYR2 R15P | None |
| 13 | M | Proband | 11 | SCA | Ventricular couplets | SCA | No genetic testing performed | Nadolol, flecainide, defibrillator |
| 14 | F | Proband | 15 | SCA | Ventricular bigeminy | SCA | RYR2 V4125F | Nadolol, flecainide, sympathectomy, defibrillator |
| 15 | F | Proband | 15 | SCA | Ventricular couplets | SCA | RYR2 L1894F | Nadolol, defibrillator |
| 16 | F | Proband | 14 | Syncope | PMVT | Syncope | RYR2 K4751Q | Nadolol, flecainide |
| 17 | F | Proband | 6 | Syncope | PMVT | SCA | RYR2 A4091T | Nadolol, flecainide, sympathectomy, defibrillator |
| 18 | F | Proband | 6 | Syncope | Ventricular bigeminy | Syncope | RYR2 R4201H | Nadolol, flecainide |
| 19 | M | Proband | 14 | SCA | PMVT | SCA | No RYR2 variants identified | Nadolol, defibrillator |
| 20 | F | Proband | 15 | SCA | PMVT | SCA | RYR2 E2314K | Nadolol, flecainide, defibrillator |
Abbreviations: CASQ2, calsequestrin 2; EST, exercise stress test; PMVT, polymorphic ventricular tachycardia; RYR2, ryanodine receptor 2; SCA, sudden cardiac arrest; VE, ventricular ectopy; VPB, ventricular premature beat.