Heart rhythm · 2026
Genotype-phenotype correlation of 139 p.Gln530Ter-KCNQ1 patients with inherited long QT syndrome.
СтатьяМногоцентровое исследованиеНаблюдательное исследованиеПоддержка исследования: вне правительства СШАНазвание и аннотация: Перевод в очереди
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Savelev Aleksei A, Larsson Nina, Dahlberg Pia, Christensen Alex H, Bugge Cecilie, Bulatovic Ivana, Gardovic Teodora, Svensson Anneli, Ljungström Erik, Markljung Minna, Ringborn Michael, Lundin Catarina, Goldenberg Ilan, McNitt Scott, Polonsky Bronislava, Graff Claus, Zareba Wojciech, Haugaa Kristina H, Platonov Pyotr G
Аннотация
BACKGROUND: Variants in the KCNQ1 underlie type 1 long QT syndrome. The clinical manifestations are influenced by the specific KCNQ1 pathogenic variant.
OBJECTIVE: We aimed to describe the phenotype in patients found to possess the p.Gln530Ter-KCNQ1 pathogenic variant common in Scandinavian patients with long QT syndrome.
METHODS: Clinical characteristics of p.Gln530Ter-KCNQ1 variant-positive patients from 6 university hospital registries in Sweden, Denmark, Norway, and the United States were compared with carriers of other KCNQ1 pathogenic variants (non-p.Gln530Ter-KCNQ1) and gene-negative controls. Cardiac events (CEs) encompassed syncope of unknown origin and ventricular arrhythmias (VAs) (episodes of torsades de pointes, appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, or sudden cardiac death).
RESULTS: The p.Gln530Ter-KCNQ1, non-p.Gln530Ter-KCNQ1, and control groups included 139 (65% female; 24% probands; mean age at end of follow-up 51 ± 20 years), 194 (65% female; mean age 44 ± 19), and 717 individuals (55% female; mean age 39 ± 24), respectively. CEs by 60 years of age were reported in 30 of the p.Gln530Ter-KCNQ1 group (22%; of those 5 VA, all nonfatal), 46 of the non-p.Gln530Ter-KCNQ1 group (24%; 4 VA, all nonfatal), and 81 of controls (11%; no VA). In the p.Gln530Ter-KCNQ1 group, CE occurred at a significantly older age than in the non-p.Gln530Ter-KCNQ1 group (44 ± 22 vs 31 ± 22; P = .02). Before 30 years of age, CE risk in the p.Gln530Ter-KCNQ1 group did not differ from that in controls (adjusted hazard ratio 1.11 [95% confidence interval 0.65-1.89]; P = .707) and was significantly lower than in the non-p.Gln530Ter-KCNQ1 group. After 30 years of age, CE risk in the p.Gln530Ter-KCNQ1 group increased significantly (adjusted hazard ratio 3.21 [95% confidence interval 1.49-6.92]; P = .003, compared with controls) and did not differ from the non-p.Gln530Ter-KCNQ1 group.
CONCLUSION: The p.Gln530Ter-KCNQ1 variant is associated with a later onset of CE than other KCNQ1 pathogenic variants.
OBJECTIVE: We aimed to describe the phenotype in patients found to possess the p.Gln530Ter-KCNQ1 pathogenic variant common in Scandinavian patients with long QT syndrome.
METHODS: Clinical characteristics of p.Gln530Ter-KCNQ1 variant-positive patients from 6 university hospital registries in Sweden, Denmark, Norway, and the United States were compared with carriers of other KCNQ1 pathogenic variants (non-p.Gln530Ter-KCNQ1) and gene-negative controls. Cardiac events (CEs) encompassed syncope of unknown origin and ventricular arrhythmias (VAs) (episodes of torsades de pointes, appropriate implantable cardioverter-defibrillator shocks, aborted cardiac arrest, or sudden cardiac death).
RESULTS: The p.Gln530Ter-KCNQ1, non-p.Gln530Ter-KCNQ1, and control groups included 139 (65% female; 24% probands; mean age at end of follow-up 51 ± 20 years), 194 (65% female; mean age 44 ± 19), and 717 individuals (55% female; mean age 39 ± 24), respectively. CEs by 60 years of age were reported in 30 of the p.Gln530Ter-KCNQ1 group (22%; of those 5 VA, all nonfatal), 46 of the non-p.Gln530Ter-KCNQ1 group (24%; 4 VA, all nonfatal), and 81 of controls (11%; no VA). In the p.Gln530Ter-KCNQ1 group, CE occurred at a significantly older age than in the non-p.Gln530Ter-KCNQ1 group (44 ± 22 vs 31 ± 22; P = .02). Before 30 years of age, CE risk in the p.Gln530Ter-KCNQ1 group did not differ from that in controls (adjusted hazard ratio 1.11 [95% confidence interval 0.65-1.89]; P = .707) and was significantly lower than in the non-p.Gln530Ter-KCNQ1 group. After 30 years of age, CE risk in the p.Gln530Ter-KCNQ1 group increased significantly (adjusted hazard ratio 3.21 [95% confidence interval 1.49-6.92]; P = .003, compared with controls) and did not differ from the non-p.Gln530Ter-KCNQ1 group.
CONCLUSION: The p.Gln530Ter-KCNQ1 variant is associated with a later onset of CE than other KCNQ1 pathogenic variants.