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Article

Retrospective Analysis of Clinical Genetic Testing in Pediatric Primary Dilated Cardiomyopathy: Testing Outcomes and the Effects of Variant Reclassification.

Journal of the American Heart Association - 2 Jun 2020

Quiat Daniel, Witkowski Leora, Zouk Hana, Daly Kevin P, Roberts Amy E

Abstract excerpt

Background Genetic testing in pediatric primary dilated cardiomyopathy (DCM) patients has identified numerous disease-causing variants, but few studies have evaluated genetic testing outcomes in this population in the context of patient and familial clinical data or assessed the clinical implications of temporal changes in genetic testing results. Methods and Results We performed a retrospective analysis of all...

Topics

Adolescent
Cardiomyopathy, Dilated
Child
Child, Preschool
DNA Mutational Analysis
Female
Genetic Predisposition to Disease
Genetic Testing
Heart Transplantation
Humans

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Infant

Infant, Newborn

Male

Mutation

Phenotype

Predictive Value of Tests

Prognosis

Reproducibility of Results

Source

Open in PubMed Open full text

Identifiers

PMID: 32458740
DOI: 10.1161/JAHA.120.016195
PMCID: PMC7428992

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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