Table 3.
Phenotypes of CPVT1 patients by RyR2 hotspot and region
| Mild VA | Severe VA | Syncopal events | Cardiac arrest events | |
|---|---|---|---|---|
| (n = 13) | (n = 76) | (n = 42) | (n = 52)a | |
| Hotspot I | 5 (38%) | 12 (16%) | 6 (14%) | 8 (16%) |
| Hotspot II | 4 30% | 16 (21%) | 10 (24%) | 11 (21%) |
| Hotspot III | 1 (8%) | 15 (20%) | 8 (19%) | 12 (23%) |
| Hotspot IV | 1 (8%) | 19 (25%) | 12 (29%) | 9 (17%) |
| Non-hotspotb | 1 (8%) | 11 (14%) | 5 (12%) | 8 (15%) |
| Unknownc | 1 (8%) | 3 (4%) | 1 (2%) | 4 (8%) |
| C-terminal region | 2 (15%) | 35 (46%) | 19 (45%) | 21 (42%) |
| Central region | 4 (31%) | 18 (24%) | 10 (24%) | 13 (26%) |
| N-terminal region | 6 (46%) | 12 (16%) | 6 (14%) | 8 (16%) |
| Non-regionb | 0 | 5 (6%) | 2 (5%) | 3 (6%) |
| Unknownc | 1 (8%) | 6 (8%) | 5 (12%) | 5 (10%) |
a
Number of cardiac arrest events reported for hotspots is n = 52, and the number reported for regions is n = 50.
b
Variant does not localize to a known hotspot and/or region in RyR2.
c
Insufficient data provided by participating centre to determine localization of RyR2 variant.