Table 2.
Ratio changes and disease. Rare missense TTN variants (percentage). ARVC arrhythmogenic right ventricular tachycardia, B benign, BrS Brugada syndrome, CPVT catecholaminergic polymorphic ventricular tachycardia, DCM dilated cardiomyopathy, HCM hypertrophic cardiomyopathy, LB likely benign, LQTS long QT syndrome, LP likely pathogenic, LVNC left ventricular non-compacted, NA not available, P pathogenic, SQTS short QT syndrome, VUS variant of uncertain significance.
| 2015 | 2021 | |||||
|---|---|---|---|---|---|---|
| VUS | B | LB | VUS-LB | VUS | VUS-LP | |
| BrS | 19 (9.84%) | 5 (2.59%) | 1 (0.51%) | 3 (1.55%) | 10 (5.18%) | 0 |
| CPVT | 5 (2.59%) | 0 | 3 (1.55%) | 1 (0.51%) | 1 (0.51%) | 0 |
| LQTS | 22 (11.39%) | 8 (4.14%) | 1 (0.51%) | 3 (1.55%) | 10 (5.18%) | 0 |
| SQTS | 2 (1.03%) | 0 | 1 (0.51%) | 0 | 1 (0.51%) | 0 |
| ARVC | 17 (8.8%) | 7 (3.62%) | 2 (1.03%) | 0 | 1 (0.51%) | 7 (3.62%) |
| DCM | 30 (15.54%) | 5 (2.59%) | 0 | 5 (2.59%) | 5 (2.59%) | 15 (7.77%) |
| HCM | 96 (49.74%) | 25 (12.95%) | 12 (6.21%) | 5 (2.59%) | 2 (1.03%) | 52 (26.94%) |
| LVNC | 2 (1.03%) | 1 (0.51%) | 0 | 1 (0.51%) | 0 | 0 |
| 193 | 51 (26.42%) | 20 (10.36%) | 18 (9.84%) | 30 (15.54%) | 74 (38.34%) | |
| 122 (63.21%) | ||||||
| 193 | ||||||