Key result
KCNQ1 mutations in LQTS families were associated with a 31% rate of cardiac events and reduced penetrance, with 40% of carriers having normal to borderline QTc.
Observational (n=62)
KCNQ1 mutations in LQTS show reduced penetrance of QTc prolongation, making genetic testing crucial for identifying carriers at risk of sudden death.
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May support genetic evaluation beyond QTc in LQTS families; leaves open the role of modifiers in KCNQ1 penetrance.
Chen et al. (2003) conducted an observational in Long QT syndrome (LQTS) and family history of lethal cardiac arrhythmias (n=62). KCNQ1 mutations vs. Non-carriers / other arrhythmia syndromes was evaluated on Genotype-phenotype characteristics (ECG parameters and cardiac event history). KCNQ1 mutations in LQTS families were associated with a 31% rate of cardiac events and reduced penetrance, with 40% of carriers having normal to borderline QTc.
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