Why the study?
Practice variations exist despite guideline recommendations for genetic testing in pediatric cardiomyopathy, and robust data on clinical testing practices and diagnostic yield in children are lacking.
Population
152 children with familial or idiopathic cardiomyopathy from 14 institutions in North America
Comparison
Exome sequencing for rare variants in 37 known cardiomyopathy genes across clinical testing subgroups
Design
Multicenter observational cohort study
Key result
Clinical genetic testing and exome sequencing identified a definitive molecular cause in 48% of previously tested and 21% of previously untested children with cardiomyopathy.
Authors
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Adds diagnostic yield data for genetic testing in pediatric cardiomyopathy; leaves open effects on management and outcomes.
Observational (n=152)
Yes
Exome sequencing can identify a definitive molecular genetic diagnosis in a substantial proportion of children with cardiomyopathy, supporting the routine use of genetic testing in this population.
Ware et al. (2021) conducted an observational in Pediatric cardiomyopathy (n=152). Genetic testing and exome sequencing was evaluated on Identification of a molecular cause (positive genetic test result). Clinical genetic testing and exome sequencing identified a definitive molecular cause in 48% of previously tested and 21% of previously untested children with cardiomyopathy.
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