Key result
In pediatric patients with Long QT Syndrome, pathogenic mutations were associated with a longer median QTc interval compared to patients without mutations.
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.
Observational (n=50)
No
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.
Answers are grounded in this paper and cite their sources.
Supports genetic testing for risk stratification in pediatric LQTS; reinforces genotype-phenotype correlation.
Congenital Long QT Syndrome (LQTS) is a genetic disorder affecting cardiac ion channels, leading to prolonged ventricular repolarization and an increased risk of life-threatening arrhythmias such as Torsades de Pointes and sudden cardiac death (SCD). 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. A retrospective analysis was performed on 50 pediatric patients with LQTS diagnosed between 2006 and 2024. The study cohort consisted of 56% males and 44% females, with a mean age of 12.1years (3.64). Median QTc interval was 461 ms (450-492). Genetic testing identified mutations in 34% of patients, including KCNQ1 (64%), KCNH2 (6%), and SCN5A (6%). QTc interval was significantly longer in the pathogenic mutations group (p<0.05) and mutations correlated with QTc length (r=0.403, p=0.004). Beta-blockers were prescribed for 28% with longer QTc in this group (p=0.011). This study highlights the phenotypic and genotypic diversity of LQTS, emphasizing the role of genetic testing in risk stratification.
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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 longer median QTc interval compared to patients without mutations.
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