Arrhythmias & electrophysiology
Mutation location and I Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region
Authors' conclusion
KCNQ1 S6 segment mutations surrounding p.A341 increase arrhythmic risk. p.A341V-specific loss of PKA-dependent IKs enhancement correlates with its phenotypic severity.
Study context
- Population
- LQT1 patients (450 families, 166 unique KCNQ1 mutations)450 families
- Participants
- 1,316 patients
- Exposure
- p.A341V vs p.A341-neighbouring vs Other LQT1
- p.A341Vn = 277
- p.A341-neighbouringn = 139
- Other LQT1n = 900reference
- Outcome
- First cardiac event
Methodological detailsS6 missense variant characteristics, including cyclic adenosine monophosphate (cAMP) stimulation responses, analysed by cellular electrophysiology
- S6 missense variant characteristics, including cAMP stimulation responses, analysed by cellular electrophysiology
Main finding
As reported in the abstract
Symptomatic subjects
Observational data: associations, not effects.
Further findings
QTc
- QTc: P < 0.05 for both (neighbouring vs p.A341V; neighbouring vs other LQT1)
Original publication
Mutation location and I Ks regulation in the arrhythmic risk of long QT syndrome type 1: the importance of the KCNQ1 S6 region. Eur Heart J. Published 10 September 2021. doi:10.
Summarised from the published abstract; every number is checked against it