Article
Comprehensive Genetic Testing for Pediatric Hypertrophic Cardiomyopathy Reveals Clinical Management Opportunities and Syndromic Conditions.
Pediatric cardiology - 1 Mar 2022
Gal Dana B, Morales Ana, Rojahn Susan, Callis Tom, Garcia John, Priest James R, Truty Rebecca, Vatta Matteo, Nussbaum Robert L, Esplin Edward D, Hollander Seth A
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) has historically been diagnosed phenotypically. Through genetic testing, identification of a molecular diagnosis (MolDx) is increasingly common but the impact on pediatric patients is unknown. This was a retrospective study of next-generation sequencing data for 602 pediatric patients with a clinician-reported history of HCM. Diagnostic yield was stratified by gene and...
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