Publications by authors named "I Denjoy"
Int J Cardiol
January 2025
Article Synopsis
- - The study compares genotypes between pediatric cardiomyopathy (pCM) and adult-onset cardiomyopathy (aCM) to understand why pCM has earlier onset and differs in severity.
- - Analysis of 253 pCM patients revealed a higher rate of genetic variants, particularly in restrictive pCM, and identified critical risk factors for adverse outcomes such as early diagnosis and presence of multiple variants.
- - Genetic testing not only clarified the genetic basis for pCM but also enhanced genetic counseling for families, resulting in cases of prenatal diagnosis.
Arch Cardiovasc Dis
October 2024
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.
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.
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.
Arch Cardiovasc Dis
May 2024
Article Synopsis
- A study was conducted to assess how well two wearable ECG devices, the Apple Watch and KardiaMobile 6L, can accurately measure important heart metrics in patients with congenital long QT syndrome (LQTS).*
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- Researchers compared these wearable devices' readings to a standard 12-lead ECG in 98 patients and found that both devices offered moderate to strong correlations, especially in measuring the corrected QT interval and analyzing ST-T wave patterns.*
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- While the wearable devices showed promise as additional monitoring tools, they are not a substitute for traditional 12-lead ECG tests in managing patients with LQTS.*
