2023 ACMG Annual Clinical Genetics Meeting Digital Edition: Poster Gallery-Evaluating the Utility of a New Pathogenicity Predictor for Pediatric Cardiomyopathy

Pdf Summary

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