November 1, 2003Journal of Cardiovascular Electrophysiology
Location of Mutation in the KCNQ1 and Phenotypic Presentation of Long QT Syndrome
Why the study?
Does the location of KCNQ1 mutations affect the risk of cardiac events in LQT1 patients?
Population
294 LQT1 patients with KCNQ1 gene mutations
Comparison
Location of KCNQ1 mutations vs Comparison among the three mutation location…
Design
Cohort
Follow-up
from birth until age of last contact or age 40 years
Authors
Discussion
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Member takes
Implication
Findings do not support KCNQ1 location for LQT1 risk stratification; challenges LQT2 extrapolation and leaves open alternative predictors.
Structured PICO
Does the location of KCNQ1 mutations affect the risk of cardiac events in LQT1 patients?
P
Population
294 LQT1 patients with KCNQ1 gene mutations
I
Intervention
Location of KCNQ1 mutations (pre-pore region including N-terminus [1-278], pore region [279-354], and post-pore region including C-terminus [>354])
C
Comparator
Comparison among the three mutation location subgroups
O
Outcome
Cardiac events (syncope, cardiac arrest, or sudden death) by age 40 yearshard clinical
Unlike LQT2, the location of the KCNQ1 mutation in LQT1 patients does not significantly influence the clinical phenotype or risk of cardiac events.
Cite This Study
Zaręba et al. (2003) studied this question.