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Article

Prevalence of Genetic Diagnoses in a Cohort With Valvar Pulmonary Stenosis

6 Jun 2022

Abstract excerpt

Background: Valvar pulmonary stenosis (vPS) accounts for 8% to 12% of congenital heart disease cases. Multiple genetic syndromes are associated with vPS, most commonly Noonan syndrome, but the cause is unknown in most cases. We analyzed genomic data from a large cohort with vPS to determine the prevalence of genetic diagnosis. Methods: The Pediatric Cardiac Genomics Consortium database was queried to identify...

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PMID: 35666834
DOI: 10.1161/circgen.121.003635

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