Key result
Genetic testing of 43 patients with swimming-triggered arrhythmias revealed LQT1 mutations in 85% of high-probability LQTS cases, while 9 of 10 low-probability cases had RyR2 (CPVT1) mutations.
Why the study?
What is the spectrum of genetic mutations in patients with swimming-triggered arrhythmia syndromes?
Population
388 consecutive, unrelated patients referred specifically for long-QT syndrome genetic testing between…
Design
Cohort, Determination of swimming history was blinded to genetic test results.
Authors
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RyR2 testing may be warranted in low-probability LQTS swimming cases; extends genetic spectrum in observational cohorts.
Observational (n=388)
Blinded to genetic test results
What is the spectrum of genetic mutations in patients with swimming-triggered arrhythmia syndromes?
Swimming-triggered arrhythmias are not exclusively caused by LQT1; CPVT1 (RyR2 mutations) is a significant underlying cause when LQT1 is excluded.
Choi et al. (2004) conducted an observational in Swimming-triggered arrhythmia syndromes (n=388). Genetic testing (LQTS genes, KCNJ2, and RyR2) was evaluated on Frequency of cardiac channel defects in patients with a positive swimming phenotype. Genetic testing of 43 patients with swimming-triggered arrhythmias revealed LQT1 mutations in 85% of high-probability LQTS cases, while 9 of 10 low-probability cases had RyR2 (CPVT1) mutations.
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