Why the study?
Few studies have evaluated genetic testing outcomes in pediatric primary DCM in the context of clinical data or assessed the clinical implications of temporal changes in genetic testing results.
Does clinical genetic testing and variant reclassification identify causal variants in pediatric patients with primary dilated cardiomyopathy?
Population
73 pediatric patients with primary DCM presenting between 2008 and 2018 (63 probands tested)
Comparison
Initial genetic testing results vs current guideline variant reclassification
Design
Single-center retrospective cohort study
Authors
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Periodic variant reclassification may refine pediatric DCM diagnoses; leaves open prospective trials on management impact.
Does clinical genetic testing and variant reclassification identify causal variants in pediatric patients with primary dilated cardiomyopathy?
Clinical genetic testing identifies a causal variant in about one-third of pediatric primary DCM patients, and periodic reevaluation of variants helps downgrade variants of uncertain significance.
Quiat et al. (2020) studied this question.
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