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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Identification of novel genetic variants in hypertrophic cardiomyopathy

Yong Hao Yeo1, Dhun Chauhan2, Stuart H Covi3

  • 1Department of Internal Medicine/Pediatrics, Corewell Health East William Beaumont University Hospital, Royal Oak, MI, USA.

Cardiology in the Young
|October 20, 2025
PubMed

Insights

Genetic testing identified unknown significance variants in FHL1 and ANK2 genes in a hypertrophic cardiomyopathy patient, highlighting the need for further research into these genes for unexplained cardiac conditions.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Familial hypertrophic cardiomyopathy (HCM) is a genetic heart muscle disease.
  • Sarcomeric protein gene mutations cause 50-60% of HCM cases.
  • The molecular basis for HCM in about one-third of patients is unknown.

Purpose of the Study:

  • To report a case of a young female diagnosed with HCM.
  • To identify potential genetic variants contributing to her condition.
  • To investigate the role of FHL1 and ANK2 genes in HCM pathogenesis.

Main Methods:

  • Clinical presentation and family history assessment.
  • Diagnostic imaging including echocardiogram and cardiac MRI.
  • Next-generation sequencing for genetic variant identification.

Main Results:

  • A 15-year-old female with HCM and a family history of cardiovascular disease was identified.
  • Genetic testing revealed a variant of unknown significance in the FHL1 gene (exon 7).
  • A variant of unknown significance was also found in the ANK2 gene (exon 43).

Conclusions:

  • The identified variants in FHL1 and ANK2 genes may contribute to the patient's HCM.
  • Further functional studies are needed to determine the pathogenicity of these variants.
  • This case underscores the importance of exploring non-sarcomeric genes in HCM diagnosis.

Keywords:
ANK2 genetic variantsFHL1 genetic variantsHypertrophic cardiomyopathyrisk stratification

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