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March 30, 2026Sveikatos mokslaiOpen Access

Pathogenic mutations in pediatric LQTS linked to a ~22 ms longer median QTc.

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Why the study?

This study aimed to evaluate the clinical and genetic characteristics of pediatric LQTS patients at a single center, identifying common genetic variants, their phenotypic associations, and implications for management.

Population

50 pediatric patients with LQTS diagnosed between 2006 and 2024

Design

Single-center retrospective analysis

Key result

In pediatric patients with Long QT Syndrome, pathogenic mutations were associated with a significantly longer median QTc interval compared to patients without mutations (480 ms vs 458 ms, p<0.05).

Authors

VJVika JaskeviciuteLRLiucija RancaitėLithuanian University of Health SciencesRTRasa TrabergLithuanian University of Health Sciences

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Overview

Supports genetic testing for risk stratification in pediatric LQTS; reinforces genotype-phenotype correlation.

Key Points

  • The study aims to evaluate the clinical and genetic traits of pediatric Long QT Syndrome patients, identifying common genetic variants and their associations.
  • Retrospective analysis conducted on 50 pediatric patients with Long QT Syndrome diagnosed between 2006-2024.
  • Comparison of QTc intervals between different genetic mutation groups.
  • Assessment of prevalence of genetic mutations such as KCNQ1, KCNH2, and SCN5A.
  • Analysis of treatment approaches, specifically the use of beta-blockers in patients with longer QTc.
  • 34% of patients showed mutations, primarily in KCNQ1 (64%).
  • QTc interval averaged 461 ms, significantly longer in patients with pathogenic mutations (p<0.05).
  • A positive correlation was found between QTc length and mutations (r=0.403, p=0.004).
  • Beta-blockers were prescribed for 28% of patients with longer QTc (p=0.011).

Study Design

Type

Observational (n=50)

Multicenter

No

Structured PICO

P
Population
Pediatric patients with Long QT Syndrome (LQTS)
O
Outcome
Clinical and genetic characteristics, common genetic variants, and phenotypic associations

Main Result

Effect estimate: r=0.403

Absolute Event Rate: 480% vs 458%

p-value: p=<0.05

In pediatric patients with Long QT Syndrome, pathogenic genetic mutations are present in about a third of cases and significantly correlate with longer QTc intervals, underscoring the value of genetic testing for risk stratification.

Limitations

  • Single-center study
  • Retrospective design
  • Small sample size
  • Presence of variants of uncertain significance (VUS) requiring further functional studies

Cite This Study

Jaskeviciute et al. (2026) conducted an observational in Congenital Long QT Syndrome (LQTS) (n=50). Pathogenic mutations vs. No mutations was evaluated on Median QTc interval (r=0.403, p=<0.05). In pediatric patients with Long QT Syndrome, pathogenic mutations were associated with a significantly longer median QTc interval compared to patients without mutations (480 ms vs 458 ms, p<0.05).

synapsesocial.com/papers/69ca1280883daed6ee094fcbhttps://doi.org/10.35988/sm-hs.2026.056
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Clinical and Genetic Characteristics of 18 Cases with Suspected Congenital Long QT Syndrome: A Retrospective Cross-Sectional Study2024 · 2 citations
  2. 2Clinical, genetic characteristics, and course of congenital long QT syndrome in children: a nine years single-center experience2020 · 8 citations
  3. 3The long QT syndrome: Therapeutic implications of a genetic diagnosis2005 · 85 citations
  4. 4Clinical characteristics and gene analysis of long QT syndrome in 15 children2025
  5. 5Long QT Syndrome: a Korean Single Center Study2013 · 15 citations