Related Experiment Video

Updated: Sep 24, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

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Familial left ventricular noncompaction cardiomyopathy due to a novel mutation in the MYH 7 gene

Sujata S Alawani1, Abraham Paul2, Mani Ram Krishna1

  • 1Department of Pediatric Cardiology, Amrita Institute of Medical Sciences, Kochi, Kerala, India.

Annals of Pediatric Cardiology
|May 9, 2022
PubMed

Insights

Genetic factors contribute to Left Ventricular Non Compaction (LVNC) in children. This study identifies a novel mutation in the MYH 7 gene as a cause of LVNC in a familial case.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Left Ventricular Non Compaction (LVNC) is a distinct cardiomyopathy.
  • The genetic basis of pediatric LVNC remains largely unknown, despite an estimated 41% heritability.
  • Understanding genetic causes is crucial for diagnosis and treatment.

Observation:

  • A family presented with diagnosed LVNC.
  • Genetic analysis was performed on affected family members.
  • A novel mutation was identified within the MYH 7 gene.

Findings:

  • A novel mutation in the MYH 7 gene was discovered in the affected family.
  • This mutation is linked to the observed cases of LVNC.
  • MYH 7 is implicated as a causative gene for LVNC.

Implications:

  • This finding expands the known genetic landscape of LVNC.
  • It highlights the role of MYH 7 mutations in cardiomyopathy development.
  • Further research into MYH 7 and related genes is warranted for pediatric LVNC.

Keywords:
Genetic cardiomyopathyleft ventricular noncompactionmassive parallel sequencing

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