Arrhythmias & electrophysiologyCohort study
Genotype-phenotype correlation of 139 p.Gln530Ter-KCNQ1 patients with inherited long QT syndrome
- Genotype-phenotype correlation
- 6 university hospital registries in Sweden, Denmark, Norway, and the United States
Authors' conclusion
The p.Gln530Ter-KCNQ1 variant is associated with a later onset of CE than other KCNQ1 pathogenic variants.
Study context
- Population
- Patients with inherited long QT syndrome possessing the p.Gln530Ter-KCNQ1 pathogenic variant, compared with carriers of other KCNQ1 pathogenic variants and gene-negative controlsp.Gln530Ter-KCNQ1 139 · non-p.Gln530Ter-KCNQ1 194 · control 717
- Participants
- 139 / 194 / 717
- Exposure
- p.Gln530Ter-KCNQ1 variant-positive patients compared with carriers of other KCNQ1 pathogenic variants (non-p.Gln530Ter-KCNQ1) and gene-negative controls
- p.Gln530Ter-KCNQ1n = 139
- non-p.Gln530Ter-KCNQ1n = 194
- controln = 717reference
Main finding
As reported in the abstract
Cardiac events (CEs) · by 60 years of age
| Group | Value | VA (of those with CE) | VA |
|---|---|---|---|
| p.Gln530Ter-KCNQ1 | 22% | 5 VA, all nonfatal | |
| non-p.Gln530Ter-KCNQ1 | 24% | 4 VA, all nonfatal | |
| control | 11% | no VA |
Observational data: associations, not effects.
Further findings
| Outcome | adjusted hazard ratio (95% CI) | P value | |
|---|---|---|---|
| CE risk · Before 30 years of age | 1.11 (0.65–1.89) | P = 0.707 | |
| CE risk · After 30 years of age | 3.21 (1.49–6.92) | P = 0.003 | |
| 0.10.31310Adjusted hazard ratio (log scale) |
| Outcome | p.Gln530Ter-KCNQ1 | non-p.Gln530Ter-KCNQ1 | control | Estimate | P value |
|---|---|---|---|---|---|
| Age at CE | 44 ± 22 | 31 ± 22 | Not reported in the abstract | P = 0.02 |
- Age at CE: CE occurred at a significantly older age in the p.Gln530Ter-KCNQ1 group
CE risk · Before 30 years of age
- CE risk in the p.Gln530Ter-KCNQ1 group significantly lower than in the non-p.Gln530Ter-KCNQ1 group
CE risk · After 30 years of age
- CE risk in the p.Gln530Ter-KCNQ1 group did not differ from the non-p.Gln530Ter-KCNQ1 group
Original publication
Genotype-phenotype correlation of 139 p.Gln530Ter-KCNQ1 patients with inherited long QT syndrome. Heart Rhythm. Published 23 March 2026. doi:10.1016/j.hrthm.2026.03.1911
Summarised from the published abstract; every number is checked against it