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2023 ACMG Annual Clinical Genetics Meeting Digital ...
Diagnostic Yield and Clinical Utility of Whole Exo ...
Diagnostic Yield and Clinical Utility of Whole Exome Sequencing in Pediatric Cardiomyopathy
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Pdf Summary
This study focused on the diagnostic yield and clinical utility of whole exome sequencing (WES) in pediatric cardiomyopathy. The study included 91 patients with various types of cardiomyopathy, such as dilated and hypertrophic cardiomyopathy. The results showed that WES had a high diagnostic yield of 39.6%, with over 60% of patients receiving a molecular genetic diagnosis that would not have been detected by a multigene panel alone. The diagnostic yield did not vary significantly between different types of cardiomyopathy or age groups, suggesting that WES has broad clinical utility for pediatric patients with cardiomyopathy. Clinical and demographic features including family history, extracardiac features, sex, and patient outcomes did not significantly affect the diagnostic yield of WES. The study concluded that WES, including mitochondrial DNA sequencing, should be the first-tier genetic test for any child presenting with cardiomyopathy. It has the capability to capture variants that may be missed by a cardiomyopathy gene panel. The study highlighted the potential of WES to uncover genetic causes of cardiomyopathy and guide medical management for affected patients. The authors expressed their gratitude to the patients and their families for participating in the study and acknowledged additional contributors to the research. The study also presented patient demographics and outcomes, showing the distribution of males and females, different types of cardiomyopathy, age at diagnosis, family history, extracardiac features, major adverse cardiac events, and survival rates. It presented a comparison of the diagnostic yields based on different factors and found no significant differences in diagnostic yield based on the type of cardiomyopathy or age at diagnosis. However, patients who presented with only an abnormal echocardiogram had a significantly lower diagnostic yield compared to those who presented with heart failure, cardiac arrest, or murmur.
Asset Subtitle
Presenting Author - Julia Keisling, BS; Co-Author - Alyssa Ritter, MS CGC; Co-Author - Rebecca C. Ahrens-Nicklas, MD, PhD; Co-Author - Christine Seymour, MS, CGC;
Meta Tag
Cardiac/circulatory disorders
Exome sequencing
Genetic Testing
Co-Author
Alyssa Ritter, MS CGC
Co-Author
Rebecca C. Ahrens-Nicklas, MD, PhD
Co-Author
Christine Seymour, MS, CGC
Presenting Author
Julia Keisling, BS
Keywords
diagnostic yield
clinical utility
whole exome sequencing
pediatric cardiomyopathy
molecular genetic diagnosis
multigene panel
cardiomyopathy types
age groups
clinical features
patient outcomes
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