Publications by authors named "E Carruth"
Article Synopsis
- The study investigates the role of BAG3 genetic variants in heritable dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM), focusing on how these variants contribute to the variability in disease expression and severity.
- Conducted at the University of Pennsylvania Health System, the research included a large cohort of patients, using whole-exome sequencing linked to electronic health records to analyze associations between BAG3 variants and clinical traits.
- Results indicated that the common C151R BAG3 variant is linked to a lower risk of DCM but an increased risk of HCM, with carriers showing better long-term health outcomes compared to noncarriers.
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene lead to a unique type of cardiomyopathy that doesn't fit neatly into existing categories like DCM, NDLVC, or ARVC, with limited past studies on potential predictors of severe outcomes.
- Researchers analyzed 800 patients with DSP variants from a global network over an average of 3.7 years, finding that 17.4% experienced sustained ventricular arrhythmias (VAs) and 9.0% had heart failure (HF) hospitalizations.
- Key risk factors for developing VAs included female sex, history of non-sustained and sustained VAs, and lower left ventricular ejection fraction, while T-wave inversion was linked to HF
Article Synopsis
- ARVC is a rare genetic heart condition that can lead to dangerous heart rhythms, and its diagnosis often relies on expert evaluation using specific criteria.* -
- This study aimed to create and validate a deep learning tool that analyzes ECGs to diagnose ARVC, using data from 688 patients, with mixed results from cardiologists but strong performance from the ECG-DL model.* -
- The ECG-DL tool demonstrated excellent accuracy in identifying ARVC cases, matching the diagnostic level of seasoned experts, and showed improved results when combined with traditional diagnostic criteria.*
Article Synopsis
- Pathogenic variants in the desmoplakin (DSP) gene are linked to a specific type of arrhythmogenic cardiomyopathy, which increases the risk of serious heart rhythm issues, but current evaluation methods are unreliable for these patients.
- A study was conducted with patients from the DSP-ERADOS registry to track the occurrence of sustained ventricular arrhythmia (VA) over time, using a detailed statistical analysis to create a new clinical prediction tool.
- The research identified five key clinical factors that can help predict the risk of developing sustained VA, resulting in a new DSP risk score that demonstrated strong prediction capabilities in both the initial and external testing groups.
Heart failure (HF) is a complex trait, influenced by environmental and genetic factors, which affects over 30 million individuals worldwide. Historically, the genetics of HF have been studied in Mendelian forms of disease, where rare genetic variants have been linked to familial cardiomyopathies. More recently, genome-wide association studies (GWAS) have successfully identified common genetic variants associated with risk of HF.
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