Article
Cardiac myosin binding protein-C variants in paediatric-onset hypertrophic cardiomyopathy: natural history and clinical outcomes.
Journal of medical genetics - 1 Aug 2022
Field Ella, Norrish Gabrielle, Acquaah Vanessa, Dady Kathleen, Cicerchia Marcos Nicolas, Ochoa Juan Pablo, Syrris Petros, McLeod Karen, McGowan Ruth, Fell Hannah, Lopes Luis R, Cervi Elena, Kaski Juan Pablo Pablo
Abstract excerpt
BACKGROUND: Variants in the cardiac myosin-binding protein C gene (MYBPC3) are a common cause of hypertrophic cardiomyopathy (HCM) in adults and have been associated with late-onset disease, but there are limited data on their role in paediatric-onset HCM. The objective of this study was to describe natural history and clinical outcomes in a large cohort of children with HCM and pathogenic/likely pathogenic...
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