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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Duchenne Muscular Dystrophy and Early Onset Hypertrophic Cardiomyopathy associated with Mutations in Dystrophin and

Liam Aspit1,2, Noga Arwas3, Hanna Krymko3

  • 1The Shraga Segal Department of Microbiology, Immunology and Genetics, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer Sheva, Israel.

Journal of Pediatric Genetics
|October 21, 2022
PubMed

Insights

Duchenne muscular dystrophy (DMD) with early hypertrophic cardiomyopathy (HCM) in a child was linked to novel gene variations. Genetic diagnosis is crucial for understanding this rare combination.

Area of Science:

  • Genetics
  • Cardiology
  • Neurology

Background:

  • Duchenne muscular dystrophy (DMD) is a genetic disorder causing progressive muscle degeneration.
  • Cardiomyopathy, a common complication of DMD, typically manifests after age 10.
  • Early-onset hypertrophic cardiomyopathy (HCM) is rare in DMD patients.

Observation:

  • A case report of an 18-month-old boy with a rare phenotype of DMD and early-onset HCM.
  • Genetic analysis revealed a dystrophin gene deletion (exons 51-54) causing DMD.
  • Whole exome sequencing identified novel missense variations in MAP2K5 and ACTN2 genes associated with HCM.

Findings:

  • The patient presented with a rare combination of DMD and early-onset HCM.
  • Novel variations in MAP2K5 and ACTN2, alongside the dystrophin mutation, likely contributed to the HCM.
  • This is the second reported case of DMD with HCM in a young patient with novel genetic variations.

Implications:

  • Highlights the importance of genetic diagnosis in identifying the underlying causes of HCM in DMD patients.
  • Suggests a potential genetic link between MAP2K5, ACTN2, and dystrophin mutations in early-onset cardiomyopathy.
  • Emphasizes the need for comprehensive genetic evaluation in pediatric cases of DMD with cardiac involvement.

Keywords:
ACTN2Duchenne muscular dystrophyMAP2K5hypertrophic cardiomyopathy

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