Key result
The KCNQ1 missense mutation p.Arg231His (R231H) was identified in 5 unrelated families, causing a high penetrance for interfamilial early-onset atrial fibrillation.
Why the study?
Does the KCNQ1 R231H mutation cause familial atrial fibrillation?
Observational
Does the KCNQ1 R231H mutation cause familial atrial fibrillation?
The KCNQ1 R231H mutation causes highly penetrant familial atrial fibrillation by shortening atrial refractoriness and promoting a substrate for reentry.
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R231H supports a genetic basis for familial early-onset AF; leaves open whether testing or targeted therapy alters management.
Bartos et al. (2012) conducted an observational in Familial Atrial Fibrillation. KCNQ1 missense mutation p.Arg231His (R231H) was evaluated on Identification of genetic variants and functional effects. The KCNQ1 missense mutation p.Arg231His (R231H) was identified in 5 unrelated families, causing a high penetrance for interfamilial early-onset atrial fibrillation.
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