Arrhythmias & electrophysiology
Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants
Authors' conclusion
The arrhythmic risk of C-terminus variants in Kv7.1 in LQTS is not homogeneous, and locations of variants can be a determining factor for prognosis.
Study context
- Population
- Patients with long QT syndrome (LQTS) type 1 carrying a rare heterozygous Kv7.1 C-terminus variant, Japan98 probands · 104 family members
- Participants
- 202 patients
- Exposure
- p.T587M and p.R366W variants vs other Kv7.1 C-terminus variants
- Outcome
- Clinical characteristics and arrhythmic events by variant
Methodological detailsconsecutive patients
- Consecutive patients
Main finding
As reported in the abstract
- 36 unique C-terminus variants (25 missense, 11 non-missense)
- p.R366W identified in 8 families; p.T587M in 21 families (northwestern Japan)
- Variants in highly conserved regions and nonhelical domains associated with longer QTc vs other regions
- Probands with p.T587M and p.R366W had worse arrhythmia outcomes vs other C-terminus variants
- Haplotype analysis of p.T587M families suggestive of founder effect
Observational data: associations, not effects.
Original publication
Clinical characterization of type 1 long QT syndrome caused by C-terminus Kv7.1 variants. Heart Rhythm. Published 15 February 2024. doi:10.
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