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Last Posted: Apr 11, 2024
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An ECG-based artificial intelligence model for assessment of sudden cardiac death risk
L Holmstrom et al, Comm Med, February 2024

From the abstract: " Conventional ECG-based algorithms could contribute to sudden cardiac death (SCD) risk stratification but demonstrate moderate predictive capabilities. Deep learning (DL) models use the entire digital signal and could potentially improve predictive power. We aimed to train and validate a 12?lead ECG-based DL algorithm for SCD risk assessment. The DL model achieves an AUROC of 0.889 (95% CI 0.861–0.917) for the detection of SCD cases vs. controls in the internal held-out test dataset, and is successfully validated in external SCD cases with an AUROC of 0.820 (0.794–0.847). "

The burden of splice-disrupting variants in inherited heart disease and unexplained sudden cardiac death
ES Singer et al, NPJ Genomic Medicine, October 11, 2023

From the abstract: "We performed burden testing of rare splice-disrupting variants in people with inherited heart disease and sudden unexplained death compared to 125,748 population controls. ClinGen definitively disease-associated inherited heart disease genes were amplified using RNA extracted from fresh blood, derived cardiomyocytes, and myectomy tissue. Variants were functionally assessed and classified for pathogenicity. We found 88 in silico-predicted splice-disrupting variants in 128 out of 1242 (10.3%) unrelated participants. "

EMQN: Recommendations for genetic testing in inherited cardiomyopathies and arrhythmias
JB Hayesmoore et al. EJHG July 13, 2023

Inherited cardiomyopathies and arrhythmias (ICAs) are a prevalent and clinically heterogeneous group of genetic disorders that are associated with increased risk of sudden cardiac death and heart failure. Making a genetic diagnosis can inform the management of patients and their at-risk relatives and, as such, molecular genetic testing is now considered an integral component of the clinical care pathway. However, ICAs are characterised by high genetic and allelic heterogeneity, incomplete / age-related penetrance, and variable expressivity.

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Disclaimer: Articles listed in the Public Health Genomics and Precision Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.

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