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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
08:22

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Clinical and Genetic Heterogeneity of HCM: The Possible Role of a Deletion Involving MYH6 and MYH7

Giancarlo Mancuso1, Marina Marsan2, Paola Neroni3

  • 1Medical Genetics Unit, Department of Medical Sciences and Public Health, University of Cagliari, 09124 Cagliari, Italy.

Genes
|February 26, 2025
PubMed

Insights

A rare genetic deletion in MYH6 and MYH7 genes caused hypertrophic cardiomyopathy (HCM) in a child. This case highlights the importance of genetic testing for diagnosing pediatric HCM, a leading cause of sudden cardiac death.

Area of Science:

  • Genetics
  • Cardiology
  • Molecular Biology

Background:

  • Pediatric hypertrophic cardiomyopathy (HCM) is a common genetic heart muscle disorder in children.
  • It is a significant cause of sudden cardiac death (SCD) in the young population.
  • Phenotypic variability complicates diagnosis and management.

Observation:

  • A 16-month-old female presented with HCM.
  • Molecular analysis, including multigene panel and chromosomal microarray analysis (CMA), was performed.
  • A rare 30 kb deletion was identified.

Findings:

  • The deletion encompassed the MYH6 and MYH7 genes.
  • MYH6 and MYH7 are crucial for sarcomeric structure and function.
  • These genes are known to be associated with HCM and other cardiomyopathies.

Implications:

  • This case emphasizes the genetic heterogeneity of HCM.
  • Genomic deletions in sarcomeric genes should be considered in HCM diagnosis.
  • Advanced genetic testing is vital for accurate pediatric HCM evaluation.
Abstract

Keywords:
MYH6MYH7copy number variationpediatric hypertrophic cardiomyopathy

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