Key result
In an unselected population, carrying putatively pathogenic genetic variants in SCN5A or KCNH2 was not associated with an abnormal arrhythmia phenotype compared to non-carriers (17% vs 13%; P=.35).
Why the study?
Does the presence of putatively pathogenic variants in SCN5A or KCNH2 associate with arrhythmia or ECG phenotypes in an unselected population?
Cohort (n=2,022)
Yes
Does the presence of putatively pathogenic variants in SCN5A or KCNH2 associate with arrhythmia or ECG phenotypes in an unselected population?
Effect estimate: difference +4% (95% CI -5% to +13%)
Absolute Event Rate: 17% vs 13%
p-value: p=.35
In an unselected population, putatively pathogenic genetic variants in SCN5A and KCNH2 were not associated with abnormal arrhythmia or ECG phenotypes, highlighting the low penetrance of incidental genetic findings.
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Incidental SCN5A/KCNH2 variants warrant no arrhythmia evaluation in unselected adults; supports low penetrance but leaves questions open for selected populations.
Driest et al. (2016) conducted a cohort in Arrhythmia susceptibility (n=2,022). Pathogenic variants in SCN5A or KCNH2 vs. No pathogenic variants was evaluated on Arrhythmia or electrocardiographic (ECG) phenotypes (difference +4%, 95% CI -5% to +13%, p=.35). In an unselected population, carrying putatively pathogenic genetic variants in SCN5A or KCNH2 was not associated with an abnormal arrhythmia phenotype compared to non-carriers (17% vs 13%; P=.35).
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