What is the clinical evidence from this study?

Study design: Observational. Population: Long QT syndrome (n=741). Intervention: KCNQ1-Fin (G589D) mutation vs. Noncarriers. Primary outcome: Rate-corrected QT interval (p=<0.001).

What does this research mean for the field?

The KCNQ1-Fin (G589D) founder mutation accounts for 30% of Finnish long QT syndrome cases and causes significant rate-corrected QT interval prolongation compared to noncarriers. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

What question did this study set out to answer?

To investigate the presence and ancestral origin of a recurrent founder mutation in the KCNQ1 potassium channel gene among patients with long QT syndrome.

September 15, 2026Journal of the American College of Cardiology

A founder mutation of the potassium channel KCNQ1 in long QT syndrome

Q: What are the key findings of this study?

The KCNQ1-Fin (G589D) mutation accounts for 30% of Finnish LQTS cases and is associated with a significantly prolonged rate-corrected QT interval compared to noncarriers (460 vs 410 ms; p<0.001).

Q: What does this research mean for the field?

The KCNQ1-Fin (G589D) founder mutation accounts for 30% of Finnish long QT syndrome cases and causes significant rate-corrected QT interval prolongation compared to noncarriers. Novelty: ClaimNovelty.NOVEL_FINDING. Consensus alignment: ConsensusAlignment.NEUTRAL.

Q: What question did this study set out to answer?

To investigate the presence and ancestral origin of a recurrent founder mutation in the KCNQ1 potassium channel gene among patients with long QT syndrome.

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Key result

KCNQ1-Fin mutation linked to a ~50 ms longer QTc versus noncarriers.

P<0.001
n=741

Why the study?

Does the KCNQ1-Fin mutation increase the rate-corrected QT interval in Finnish patients with long QT syndrome?

Population

Finnish patients with long QT syndrome, including 2 unrelated patients with Jervell and Lange-Nielsen…

Comparison

Genetic sequencing of the KCNQ1 gene and… vs Noncarriers of the KCNQ1-Fin mutation

Design

Cross-sectional

Authors

KPKirsi PiippoPediatrics and Genetics HSHeikki SwanElectrophysiology MPMichael PasternackMSD (Finland)

Discussion

Member takes

Implication

The identification of a founder mutation (KCNQ1-Fin) responsible for 30% of Finnish LQTS cases provides a unique opportunity to study genetic and non-genetic modifiers of the disease.

Key Points

To investigate the presence and ancestral origin of a recurrent founder mutation in the KCNQ1 potassium channel gene among patients with long QT syndrome.
Genetic sequencing and pedigree analysis conducted in individuals and families diagnosed with long QT syndrome.
Haplotype analysis performed to evaluate shared chromosomal markers indicating common ancestry among mutation carriers.
Identification of a recurrent KCNQ1 channel mutation segregating with the long QT syndrome phenotype across multiple affected families.
Demonstration of a conserved haplotype flanking the mutation, confirming a single ancestral founder origin underlying the disorder.

Study Design

Type

Observational (n=741)

Structured PICO

Does the KCNQ1-Fin mutation increase the rate-corrected QT interval in Finnish patients with long QT syndrome?

Population

741 Finnish subjects including LQTS probands, patients with Jervell and Lange-Nielsen syndrome, and their family members.

Exposure

Genetic sequencing of the KCNQ1 gene and functional patch-clamp analysis

Comparator

Noncarriers of the KCNQ1-Fin mutation

Outcome

Identification of KCNQ1 mutations and rate-corrected QT intervalssurrogate

Main Result

Absolute Event Rate: 460% vs 410%

p-value: p=<0.001

The identification of a founder mutation (KCNQ1-Fin) responsible for 30% of Finnish LQTS cases provides a unique opportunity to study genetic and non-genetic modifiers of the disease.

Cite This Study

Piippo et al. (2001) conducted an observational in Long QT syndrome (n=741). KCNQ1-Fin (G589D) mutation vs. Noncarriers was evaluated on Rate-corrected QT interval (p=<0.001). The KCNQ1-Fin (G589D) mutation accounts for 30% of Finnish LQTS cases and is associated with a significantly prolonged rate-corrected QT interval compared to noncarriers (460 vs 410 ms; p<0.001).

synapsesocial.com/papers/6aa9b59283705aff8b6d8ec7 https://doi.org/10.1016/s0735-1097(00)01124-4

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Implication

The identification of a founder mutation (KCNQ1-Fin) responsible for 30% of Finnish LQTS cases provides a unique opportunity to study genetic and non-genetic modifiers of the disease.

A founder mutation of the potassium channel KCNQ1 in long QT syndrome

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Main Result

Cite This Study

A founder mutation of the potassium channel KCNQ1 in long QT syndrome

Discussion

Member takes

Implication

Key Points

Study Design

Structured PICO

Main Result

Cite This Study

Also Consider

Also Consider