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A case of MYH7 and MYH9 genes variants with cardiomyopathy and macrothrombocytopenia

Yasuhiro Ikawa1, Taichi Nakamura1, Noboru Fujino2

  • 1Department of Pediatrics, Graduate School of Medicine, Institute of Medical, Pharmaceutical and Health Sciences Kanazawa University Kanazawa Japan.

Clinical Case Reports
|February 5, 2024
PubMed

Insights

A 15-year-old girl with inherited cardiomyopathy and macrothrombocytopenia was diagnosed with pathogenic variants in both MYH7 and MYH9 genes. This case highlights the critical role of genetic testing in diagnosing and managing rare inherited disorders.

Area of Science:

  • Genetics
  • Cardiology
  • Hematology

Background:

  • Myosin heavy chain proteins, encoded by MYH7 and MYH9 genes, are crucial for muscle function.
  • Inherited cardiomyopathies and macrothrombocytopenia are distinct genetic disorders.

Observation:

  • A 15-year-old female presented with symptoms of inherited cardiomyopathy and macrothrombocytopenia.
  • Genetic analysis revealed pathogenic variants in both the MYH7 and MYH9 genes.

Findings:

  • The co-occurrence of pathogenic variants in MYH7 and MYH9 genes in a single patient is rare.
  • This genetic combination led to the manifestation of both cardiomyopathy and macrothrombocytopenia.

Implications:

  • This case underscores the importance of comprehensive genetic testing for complex inherited disorders.
  • Personalized medicine approaches are essential for accurate diagnosis and effective management of patients with combined genetic variants.
  • Repeated genetic testing may be necessary for diagnosing and managing inherited conditions with overlapping phenotypes.

Keywords:
MYH7MYH9cardiomyopathymacrothrombocytopenia

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