title: Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation.
abstract: Mutations in genes encoding cardiac sarcomeric proteins are thought to be a very rare cause of hypertrophic cardiomyopathy (HCM) in infants and young children. We report on genetic and histopathological findings in a 3-month-old infant presenting with severe progressive HCM arising from a mutation in the gene encoding the essential light chain of myosin (MYL3). The patient was found to have a novel, paternally inherited pathogenic c.530 A>G mutation in exon 5 of the MYL3 gene. His father was asymptomatic. Although, MYL3 mutations have been previously associated with adult-onset HCM, it has not been seen in infantile forms. As such, this case adds to the emerging evidence demonstrating that familial disease associated with mutations in cardiac sarcomere protein genes may have an important role in infants and children with HCM. In addition, this case highlights the marked phenotypic heterogeneity associated with sarcomeric protein mutations both within and between families.
authors.affiliation: Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan 48201, USA.
authors.forename: Allison
authors.initials: A
authors.lastname: Jay
authors.forename: Rashmi
authors.initials: R
authors.lastname: Chikarmane
authors.forename: Janet
authors.initials: J
authors.lastname: Poulik
authors.forename: Vinod K
authors.initials: VK
authors.lastname: Misra
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics*; D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation / Q000235:genetics*; D018994:Myosin Light Chains / Q000235:genetics*
chemical_list: D018994:Myosin Light Chains