Publications by authors named "J Barc"
Background: Congenital long QT syndrome (LQTS) is characterized by delayed ventricular repolarization, predisposing to potentially lethal ventricular arrhythmias. The variability in disease severity among patients remains largely unexplored, underscoring the limitations of current risk stratification methods.
Objective: We aimed to evaluate the potential utility of electrocardiographic markers from the exercise stress test (EST) in identifying patients with high-risk LQTS.
Genotype-phenotype association tests are typically adjusted for population stratification using principal components that are estimated genome-wide. This lacks resolution when analysing populations with fine structure and/or individuals with fine levels of admixture. This can affect power and precision, and is a particularly relevant consideration when control individuals are recruited using geographic selection criteria.
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- Sudden cardiac death significantly impacts the life expectancy of individuals with schizophrenia, possibly linked to arrhythmic disorders, although the exact relationship remains unclear.
- The study aimed to explore genetic connections and possible causal influences between schizophrenia and various heart-related conditions, utilizing extensive genetic data from large-scale studies.
- Findings revealed minimal global genetic correlation, but specific genetic regions showed strong links, suggesting that schizophrenia risk may increase the likelihood of developing certain arrhythmias like Brugada syndrome and affect heart rate during activities.
Background: The long-term prognosis of patients with a loss-of-function variant in the cardiac sodium channel gene SCN5A is unknown.
Objective: This study aimed to evaluate the long-term arrhythmic risk in patients with an SCN5A loss-of-function variant to identify predictors of arrhythmic events.
Methods: Probands and family members with (likely) pathogenic SCN5A loss-of-function variants were retrospectively included.
Article Synopsis
- Brugada syndrome (BrS) is a hereditary cardiac disorder linked to sudden death in young adults, particularly prevalent in Southeast Asia, with certain genetic variants associated with the condition.
- Researchers conducted genome sequencing on individuals with BrS and matched controls in Thailand to find rare noncoding variants that are more common in BrS patients.
- A specific rare variant was identified that disrupts a transcription factor binding site, causing reduced gene expression and reduced sodium current in heart cells, contributing to the high prevalence of BrS in the region and identifying at-risk individuals.