EP295: Barriers to uptake of genetic services in families of pediatric hypertrophic cardiomyopathy patients

Abstract

Hypertrophic cardiomyopathy (HCM) is a common cardiovascular condition that is defined by unexplained left ventricular hypertrophy. A causative pathogenic variant can be detected via molecular testing in the majority of HCM cases. Pediatric HCM cases are typically predicted to be more severe than adult-onset cases and are more likely to be associated with a pathogenic variant. Barriers to genetic testing that have been established by prior studies include individual barriers such as unawareness and/or lack of knowledge regarding genetic services and institutional barriers including healthcare professionals’ lack of awareness and knowledge regarding genetic services.