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Updated: Jun 29, 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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ATTR Gene Variants in HCM

Anthony J Kanelidis1, Jeremy A Slivnick1, Rachel Campagna1

  • 1University of Chicago Medicine, Chicago, Illinois, USA.

JACC. Case Reports
|March 29, 2024
PubMed

Insights

Hypertrophic cardiomyopathy (HCM) is often inherited. However, TTR gene variants causing cardiac amyloidosis can mimic HCM, highlighting an underrecognized diagnostic overlap.

Area of Science:

  • Cardiology
  • Genetics
  • Molecular Biology

Background:

  • Hypertrophic cardiomyopathy (HCM) is the most prevalent inherited cardiac condition, affecting 1 in 200 to 1 in 500 individuals.
  • Cardiac amyloidosis involves the deposition of misfolded transthyretin (TTR) protein in the heart muscle, leading to cardiomyopathy.
  • Amyloidosis can be acquired or hereditary, presenting diagnostic challenges.

Observation:

  • Phenotypic HCM may be caused by underlying genetic factors not typically associated with the condition.
  • Transthyretin (TTR) gene variants are increasingly recognized in patients presenting with HCM-like symptoms.

Findings:

  • Pathogenic TTR gene variants represent an underrecognized cause of hypertrophic cardiomyopathy.
  • Genetic testing can reveal TTR variants in individuals with a phenotypic diagnosis of HCM.

Implications:

  • Identifying TTR variants in HCM patients is crucial for accurate diagnosis and appropriate management.
  • This finding underscores the importance of considering genetic amyloidosis in the differential diagnosis of HCM.
  • Early detection of TTR-related amyloidosis can guide targeted therapies and improve patient outcomes.

Keywords:
TTR genecardiac amyloidosisgeneticshypertrophic cardiomyopathyinfiltrative cardiomyopathy

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