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Last Posted: Jun 02, 2023
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Genetic testing in monogenic early-onset atrial fibrillation.
Brandon Chalazan et al. Eur J Hum Genet 2023 5

We aim to determine the prevalence of likely pathogenic and pathogenic variants from AF genes with robust evidence in a well phenotyped early-onset AF population. We performed whole exome sequencing on 200 early-onset AF patients. Variants from exome sequencing in affected individuals were filtered in a multi-step process, prior to undergoing clinical classification using current ACMG/AMP guidelines. There was a 3.0% diagnostic yield for identifying a likely pathogenic or pathogenic variant across AF genes with robust gene-to-disease association evidence.

Generalizable and robust deep learning algorithm for atrial fibrillation diagnosis across geography, ages and sexes.
Shany Biton et al. NPJ digital medicine 2023 3 (1) 44

This retrospective study attempts to develop and assess the generalization performance of a DL model for AF events detection from long term beat-to-beat intervals across geography, ages and sexes. The new recurrent DL model, denoted ArNet2, is developed on a large retrospective dataset of 2,147 patients totaling 51,386?h obtained from continuous electrocardiogram (ECG). The model’s generalization is evaluated on manually annotated test sets from four centers (USA, Israel, Japan and China) totaling 402 patients. The model is further validated on a retrospective dataset of 1,825 consecutives Holter recordings.

Association of accelerometer-derived circadian abnormalities and genetic risk with incidence of atrial fibrillation
L Yang et al, NPJ Digital Medicine, March 4, 2023

In this large population-based cohort, we found that circadian rest-activity rhythm (CRAR) abnormalities, hallmarked by low amplitude, delayed acrophase, and low mesor (but not pseudo-F), were strongly associated with AF risk. When examining the joint associations of CRAR and genetic risk with AF incidence, high genetic risk in combination with CRAR abnormalities was associated with a more than 2.5-fold greater risk of AF compared with low genetic risk and normal CRAR.

Association of Hypertensive Disorders of Pregnancy With Future Cardiovascular Disease.
Bilal Rayes et al. JAMA network open 2023 2 (2) e230034

Is there evidence for an association between hypertensive disorders of pregnancy (HDPs) and long-term risk of cardiovascular disease? In this large genome-wide genetic association study using mendelian randomization, HDPs were associated with higher risk of coronary artery disease and ischemic stroke but not heart failure or atrial fibrillation. Mediation analysis revealed a partial attenuation of the association between HDPs and coronary artery disease after adjustment for systolic blood pressure and type 2 diabetes. These results support the consideration of HDPs as potential risk factors for cardiovascular disease.

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