Publications by authors named "A Leenhardt"

Article Synopsis
  • Arrhythmic risk stratification in Brugada syndrome is challenging, and this study aimed to evaluate the predictive value of automatically measured ECG parameters from digitized paper ECGs.
  • In a multicenter study involving 301 patients, two ECG parameters (QRS prolongation in lead V1 and S duration on DI) were found to independently predict major cardiac events.
  • The study concluded that automatic ECG analysis could effectively assess risk in Brugada syndrome patients by confirming known parameters and identifying new ones.
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Article Synopsis
  • SCN5A gene variants are linked to various cardiac electrical disorders, but they can also result in complex phenotypes like overlap syndromes, which haven't been thoroughly studied.
  • The study analyzed DNA from over 13,500 patients with a focus on those carrying pathogenic SCN5A variants, finding that most were tied to well-defined conditions like Brugada syndrome and long QT syndrome.
  • About 19% of the variants were associated with complex phenotypes, and only a small number (8 out of 9,960 patients) showed a potential link to dilated cardiomyopathies (DCM), suggesting it's a rare association.
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Article Synopsis
  • KCNQ1 mutations are linked to long QT syndrome (LQT) and increase the risk of life-threatening heart arrhythmias, with distinct impacts based on whether the mutations are heterozygous or homozygous.
  • This study analyzed data from 789 individuals with KCNQ1 variants to compare QTc duration and cardiac event risks among three groups: JLNS patients, heterozygous JLNS variant carriers, and heterozygous non-JLNS variant carriers.
  • Findings revealed that heterozygous JLNS variant carriers had a significantly lower risk of cardiac events compared to non-JLNS carriers, with specific genetic factors identified as influencing these risks.
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Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) may cause sudden cardiac death (SCD) despite medical therapy. Therefore, implantable cardioverter-defibrillators (ICDs) are commonly advised. However, there is limited data on the outcomes of ICD use in children.

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Background: The efficacy of beta-blocker treatment in type 3 long QT syndrome (LQT3) remains debated.

Objectives: The purpose of this study was to test the hypothesis that beta-blocker use is associated with cardiac events (CEs) in a French cohort of LQT3 patients.

Methods: All patients with a likely pathogenic/pathogenic variant in the SCN5A gene (linked to LQT3) were included and followed-up.

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