Table 1.
CATHGEN Population Characteristics by Arrhythmia-related Gene Variant Carrier Status
| P/LP (N=79) | VUS (N=826) | Variant-negative (N=7,348) | |
|---|---|---|---|
| Demographics | |||
| Age, years*† | 57.3 ± 9.8 | 60.2 ± 12.5 | 60.9 ± 12.0 |
| Female | 31 (39%) | 328 (40%) | 2,775 (38%) |
| Genetic ancestry‡ | |||
| European | 61 (77%) | 583 (71%) | 5,652 (77%) |
| African | 18 (23%) | 218 (26%) | 1,563 (21%) |
| Admixed American | 0 | 12 (1%) | 38 (1%) |
| South Asian | 0 | 2 (<1%) | 35 (<1%) |
| East Asian | 0 | 2 (<1%) | 19 (<1%) |
| Unknown | 0 | 9 (1%) | 41 (1%) |
| Clinical characteristics | |||
| Body Mass Index, kg/m2 | 29 ± 6 | 30 ± 7 | 30 ± 7 |
| Diabetes*† | 15 (19%) | 252 (31%) | 2,065 (28%) |
| Hypertension | 48 (61%) | 564 (68%) | 4,953 (67%) |
| Hyperlipidemia*† | 34 (43%) | 487 (59%) | 4,384 (60%) |
| Smoker | 35 (44%) | 374 (45%) | 3,521 (48%) |
| Coronary artery disease*† | 31 (39%) | 490 (59%) | 4,578 (62%) |
| Heart failure*† | 33 (42%) | 224 (27%) | 1,987 (27%) |
| Left ventricular ejection fraction, % | 54 ± 15 | 55 ± 14 | 55 ± 14 |
| Atrial fibrillation*† | 22 (28%) | 121 (15%) | 1,169 (16%) |
| Indication for catheterization*† | |||
| Ischemic heart disease | 36 (46%) | 577 (70%) | 5,141 (70%) |
| Valvular heart disease | 1 (1%) | 24 (3%) | 193 (3%) |
| Congenital heart disease | 1 (1%) | 0 | 28 (<1%) |
| Other | 41 (52%) | 225 (27%) | 1,986 (27%) |
Continuous measures are described as mean ± standard deviation and are compared using the two-sided Student’s t-test. Categorical variables are described as N (%) and are compared using Fisher’s exact test. P/LP, pathogenic/likely pathogenic; VUS, variant of uncertain significance.
*
p <0.05 for comparison of P/LP to VUS carriers
†
p <0.05 for comparison of P/LP carriers to variant-negative individuals
‡
p <0.05 for comparison of VUS carriers to variant-negative individuals