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Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue

Daigo Hiraya1, Nobuyuki Murakoshi1, Miyako Igarashi1

  • 1Department of Cardiology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.

Frontiers in Genetics
|August 21, 2024
PubMed

Insights

Investigating obstructive hypertrophic cardiomyopathy (HOCM) in patients with connective tissue diseases reveals genetic variants and common human leukocyte antigen (HLA) types. These findings highlight the complex origins of HOCM, especially when inflammatory conditions are present.

Area of Science:

  • Cardiology
  • Genetics
  • Immunology

Background:

  • Hypertrophic cardiomyopathy (HCM) is often genetic, linked to sarcomere protein gene mutations (e.g., MYH7, MYBPC3), but many cases lack identified mutations.
  • Associations between HCM, human leukocyte antigen (HLA) types, and connective tissue diseases (CTDs) are suggested but not well-defined.
  • Understanding these links is crucial for diagnosing and treating HCM, particularly obstructive forms (HOCM).

Purpose of the Study:

  • To investigate the genetic and HLA profiles of patients with obstructive hypertrophic cardiomyopathy (HOCM) and connective tissue diseases.
  • To determine the prevalence of genetic variants and specific HLA types in this patient cohort.
  • To explore potential correlations between HOCM, CTDs, and HLA types.

Main Methods:

  • Single-center study analyzing five patients with HOCM, connective tissue diseases, and sarcoidosis.
  • Detailed genetic analysis to identify variants in known HCM causative genes.
  • HLA typing to assess the prevalence of specific human leukocyte antigen types.

Main Results:

  • Rare variants in HCM causative genes were identified in two of the five analyzed patients.
  • Specific human leukocyte antigen (HLA) types were found to be relatively common in the study group.
  • Fifteen percent of all evaluated HOCM cases were associated with connective tissue diseases, predominantly rheumatoid arthritis.

Conclusions:

  • HCM etiology is complex, involving genetic factors, HLA types, and potentially autoimmune or inflammatory conditions like CTDs.
  • The frequent co-occurrence of HOCM and CTDs suggests a potential link requiring further investigation.
  • Findings may inform improved diagnostic strategies and targeted therapies for HOCM patients with coexisting inflammatory diseases.

Keywords:
connective tissue diseasesgenetic mutationshuman leukocyte antigenhypertrophic cardiomyopathyrheumatoid arthritis

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