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Infantile hypertrophic cardiomyopathy associated with a novel MYL3 mutation

Allison Jay1, Rashmi Chikarmane, Janet Poulik

  • 1Division of Genetic and Metabolic Disorders, Department of Pediatrics, Children's Hospital of Michigan, Detroit, Michigan 48201, USA.

Cardiology
|April 19, 2013
PubMed

Insights

A novel mutation in the MYL3 gene caused severe infantile hypertrophic cardiomyopathy (HCM) in an infant, despite the father being asymptomatic. This highlights the role of sarcomeric protein gene mutations in pediatric HCM.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is a cardiac condition.
  • Mutations in sarcomeric protein genes are rarely linked to infantile HCM.
  • Genetic factors play a role in HCM development.

Observation:

  • A 3-month-old infant presented with severe, progressive HCM.
  • Genetic analysis revealed a novel, paternally inherited MYL3 gene mutation (c.530 A>G) in the infant.
  • The infant's father, carrying the same mutation, was asymptomatic.

Findings:

  • The identified MYL3 mutation, previously associated with adult-onset HCM, is implicated in infantile HCM.
  • This case demonstrates a new genetic cause for severe pediatric HCM.
  • The study identified a pathogenic mutation in the MYL3 gene.

Implications:

  • Familial disease linked to sarcomeric protein gene mutations is significant in pediatric HCM.
  • Sarcomeric protein mutations exhibit significant phenotypic heterogeneity within and between families.
  • This finding expands the understanding of genetic causes for HCM in infants and children.

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