Publications by authors named "Christopher D Nevius"

Purpose: Right ventricular (RV) function is increasingly recognized for its prognostic value in many disease states. As with the left ventricle (LV), strain-based measurements may have better prognostic value than typical chamber volumes or ejection fraction. Complete functional characterization of the RV requires high-resolution, 3D displacement tracking methods, which have been prohibitively challenging to implement.

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Background: Genomic screening holds great promise for presymptomatic identification of hidden disease, and prevention of dramatic events, including sudden cardiac death associated with arrhythmogenic cardiomyopathy (ACM). Herein, we present findings from clinical follow-up of carriers of ACM-associated pathogenic/likely pathogenic desmosome variants ascertained through genomic screening.

Methods: Of 64 548 eligible participants in Geisinger MyCode Genomic Screening and Counseling program (2015-present), 92 individuals (0.

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Machine learning promises to assist physicians with predictions of mortality and of other future clinical events by learning complex patterns from historical data, such as longitudinal electronic health records. Here we show that a convolutional neural network trained on raw pixel data in 812,278 echocardiographic videos from 34,362 individuals provides superior predictions of one-year all-cause mortality. The model's predictions outperformed the widely used pooled cohort equations, the Seattle Heart Failure score (measured in an independent dataset of 2,404 patients with heart failure who underwent 3,384 echocardiograms), and a machine learning model involving 58 human-derived variables from echocardiograms and 100 clinical variables derived from electronic health records.

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Article Synopsis
  • Children with obesity often experience changes in heart structure, known as hypertrophic cardiac remodeling, partly due to high blood pressure (hypertension).
  • A study involving 72 children, aged 8-17, found that those who were obese or overweight had significantly higher measures of heart mass and thickness compared to their healthy-weight peers, with 35% showing signs of concentric hypertrophy.
  • Blood pressure readings indicated that 26% of the obese/overweight children had ambulatory hypertension, and there were strong correlations between body mass index (BMI) and various heart measurements, suggesting that both obesity and blood pressure contribute to heart changes in children.
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  • Pediatric obesity is a rising public health issue linked to serious health risks like heart disease and early death, highlighting the need to explore right ventricular (RV) changes in addition to left ventricular (LV) issues in obese children.
  • A study involving 103 children aged 8-18 used advanced imaging techniques to assess the geometry and function of the RV, discovering significant differences between healthy-weight and obese/overweight groups.
  • Results showed that obese/overweight children had a 22% increase in RV mass and poorer RV function (longitudinal strain), with some exhibiting more severe conditions like LV concentric hypertrophy, which further impaired RV functionality.
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  • ARVC is a genetic heart disease, and researchers aimed to assess the prevalence of related findings in genes associated with it through exome sequencing of over 30,000 individuals.
  • The study found that subjects with pathogenic loss-of-function (pLOF) variants and variants of uncertain significance (VUS) did not have a formal diagnosis of ARVC in their electronic health records (EHR).
  • Overall, the results indicate that pLOF variants and VUS were not linked to ARVC-related health issues among the cohort, raising questions about the reliability of EHR reviews in predicting ARVC.
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Abdominal aortic aneurysm (AAA) is a complex disorder that has a significant impact on the aging population. While both genetic and environmental risk factors have been implicated in AAA formation, the precise genetic markers involved and the factors influencing their expression remain an area of ongoing investigation. DNA methylation has been previously used to study gene silencing in other inflammatory disorders and since AAA has an extensive inflammatory component, we sought to examine the genome-wide DNA methylation profiles in mononuclear blood cells of AAA cases and matched non-AAA controls.

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