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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Evaluating the Utility of a New Pathogenicity Pred ...
Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy
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This document is a summary of a retrospective cohort study conducted at the Children's Hospital of Philadelphia (CHOP) to evaluate the utility of a new pathogenicity predictor for pediatric cardiomyopathy (CM). The study aimed to assess the association between disease-causing genetic variants and severe clinical outcomes in pediatric CM. The study included a total of 104 pediatric patients with CM, categorized into three types: dilated cardiomyopathy (DCM), hypertrophic cardiomyopathy (HCM), and other types. The study utilized CardioBoost scores to assess the risk of adverse clinical outcomes.<br /><br />The results showed that a composite endpoint of major adverse cardiac events (MACE) occurred in 61% of the cohort. However, after adjusting for confounding variables, there was no identified association between CardioBoost scores and clinical outcomes. The study also highlighted the differences between adult and pediatric CM, suggesting that the CardioBoost tool, trained with adult data, may not be as effective for pediatric disease.<br /><br />The authors recommended caution when using the CardioBoost tool to stratify clinical outcomes in pediatric CM. They suggested the addition of new genes to improve the clinical utility of the tool and the development of a variant classifier specifically designed for pediatric CM. The study emphasized the ongoing challenges in variant interpretation in pediatric CM.<br /><br />In conclusion, this study did not find a relationship between CardioBoost scores and clinical outcomes in pediatric CM. The study highlights the need for further research and improvement in variant interpretation for pediatric CM. The contact information of the lead authors is provided for further inquiries.
Asset Subtitle
Presenting Author - Alyssa L. Rippert, MS; Co-Author - Sarah Trackman, MS CGC; Co-Author - Danielle Burstein, MD; Co-Author - J. William Gaynor, MD; Co-Author - Heather Griffis, PhD; Co-Author - Christine Seymour, MS, CGC; Co-Author - Rebecca C. Ahrens-Nicklas, MD, PhD;
Meta Tag
Cardiac/circulatory disorders
Cardiovascular System
Genetic Testing
Genotype-Phenotype Correlations
Risk Assessment
Co-Author
Sarah Trackman, MS CGC
Co-Author
Danielle Burstein, MD
Co-Author
J. William Gaynor, MD
Co-Author
Heather Griffis, PhD
Co-Author
Christine Seymour, MS, CGC
Co-Author
Rebecca C. Ahrens-Nicklas, MD, PhD
Presenting Author
Alyssa L. Rippert, MS
Keywords
retrospective cohort study
pediatric cardiomyopathy
CardioBoost scores
clinical outcomes
dilated cardiomyopathy
hypertrophic cardiomyopathy
major adverse cardiac events
adult and pediatric CM
variant interpretation
lead authors
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