Table 1.
Clinical comparisons between patients with CPVT1 and gene-elusive CPVT
| CPVT1a | Gene elusive | |
|---|---|---|
| n = 117 | n = 23 | |
| Male sex | 59/117 (50%) | 10/23 (43%) |
| Probands | 77/117 (66%) | 22/23 (96%) |
| Median age at diagnosis (years) | 11.7 (95% CI: 10.6–12.8) | 14.8 (95% CI: 12.3–17.2) |
| Median delay to diagnosis (years) | 0.6 (95% CI: 0.3–1.2) | 0.4 (95% CI: 0–2.2) |
| Syncope | 36/117 (31%) | 6/23 (26%) |
| Cardiac arrest | 43/117 (37%) | 9/23 (39%) |
| Atypical trigger for syncope | 8/33 (13%) | 3/9 (33%) |
| Atypical trigger for cardiac arrest | 10/37 (26%) | 4/10 (40%) |
| VA | 89/117 (76%) | 23/23 (100%) |
| Atrial arrhythmia | 26/117 (22%) | 5/23 (22%) |
| Beta-blocker failure | 15/117 (13%) | 5/23 (22%) |
| ICD use | 56/115 (49%) | 15/23 (65%) |
| Deaths | 4/117 (3%) | 0/23 (0%) |
a
Defined as carrying a rare variant in RYR2 classified as a pathogenic mutation, probable pathogenic mutation, or VUS at the time of genetic testing.