Key result
LQTS probands with compound mutations were significantly more likely to experience cardiac arrest compared to those with one or no identified mutation (56% vs 27%; OR 3.5; 95% CI 1.2 to 9.9; P<0.01).
Why the study?
Does the presence of compound mutations increase the severity of the phenotype and risk of cardiac events in LQTS probands?
Population
252 Long QT syndrome (LQTS) probands
Comparison
Presence of compound mutations vs Probands with 1 or no identified mutation
Design
Cohort
Authors
Discussion
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Implication
May support intensified monitoring in compound-mutation LQTS probands; hypothesis-generating for risk stratification and requires prospective validation.
Study Design
Type
Observational (n=252)
Structured PICO
Does the presence of compound mutations increase the severity of the phenotype and risk of cardiac events in LQTS probands?
P
Population
252 Long QT syndrome (LQTS) probands
I
Intervention
Presence of compound mutations (carriers of 2 mutations in KVLQT1, HERG, KCNE1, KCNE2, or SCN5A)
C
Comparator
Probands with 1 or no identified mutation
O
Outcome
QTc interval length, cardiac events, and cardiac arresthard clinical
Main Result
Effect estimate: OR 3.5 (95% CI 1.2 to 9.9)
Absolute Event Rate: 56% vs 27%
p-value: p=<0.01
LQTS probands with compound mutations exhibit a significantly more severe phenotype, including longer QTc intervals and a higher risk of cardiac arrest, highlighting the need for tailored management.
Cite This Study
Westenskow et al. (2004) conducted an observational in Long QT syndrome (LQTS) (n=252). Compound mutations vs. 1 or no identified mutation was evaluated on Cardiac arrest (OR 3.5, 95% CI 1.2 to 9.9, p=<0.01). LQTS probands with compound mutations were significantly more likely to experience cardiac arrest compared to those with one or no identified mutation (56% vs 27%; OR 3.5; 95% CI 1.2 to 9.9; P<0.01).