Year: 2026
Type: article
Study design: Observational Study
Abstract: 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.
Source: Sveikatos mokslai
Institution: Lithuanian University of Health Sciences
Language: English
Subfield: Cardiology and Cardiovascular Medicine
Field: Medicine
Domain: Health Sciences
Open Access status: diamond
OpenAlex ID: W7141105683
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