Why the study?
Do mutations in the pore region of the HERG channel increase the risk of arrhythmia-related cardiac events compared to nonpore mutations in patients with LQT2?
Population
201 subjects with the LQT2 form of hereditary long-QT syndrome (44 different HERG mutations)
Comparison
Mutations in the pore region of the HERG channel vs Mutations in nonpore regions of the HERG channel
Design
Cohort
Follow-up
through age 40 years
Key result
Mutations in the pore region of the HERG gene were associated with a markedly higher frequency of arrhythmia-related cardiac events compared with nonpore mutations (74% vs 35%; P<0.001).
Authors
Loading...
May inform LQT2 risk stratification by mutation site; extends genotype-phenotype data but remains hypothesis-generating.
Cohort (n=201)
Do mutations in the pore region of the HERG channel increase the risk of arrhythmia-related cardiac events compared to nonpore mutations in patients with LQT2?
Patients with LQT2 and mutations in the pore region of the HERG gene are at a markedly increased risk for arrhythmia-related cardiac events compared to those with nonpore mutations.
Effect estimate: HR 11
Absolute Event Rate: 74% vs 35%
p-value: p=<0.001
Moss et al. (2002) conducted a cohort in Long-QT Syndrome (LQT2) (n=201). HERG channel pore region mutations vs. HERG channel nonpore region mutations was evaluated on Arrhythmia-related cardiac events (HR 11, p=<0.001). Mutations in the pore region of the HERG gene were associated with a markedly higher frequency of arrhythmia-related cardiac events compared with nonpore mutations (74% vs 35%; P<0.001).