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ORIGINAL RESEARCH article

Front. Genet.
Sec. Genetics of Common and Rare Diseases
Volume 15 - 2024 | doi: 10.3389/fgene.2024.1432670
This article is part of the Research Topic Recent Advances in Causes, Diagnosis, and Therapeutics for Congenital Heart Defects View all 6 articles

Genetic testing and human leukocyte antigen in patients with hypertrophic cardiomyopathy and connective tissue diseases

Provisionally accepted
Daigo Hiraya Daigo Hiraya *Nobuyuki Murakoshi Nobuyuki Murakoshi Miyako Igarashi Miyako Igarashi DongZhu Xu DongZhu Xu Tomoko Ishizu Tomoko Ishizu
  • Faculty of Medicine, University of Tsukuba, Tsukuba, Japan

The final, formatted version of the article will be published soon.

    Hypertrophic cardiomyopathy (HCM) is caused by myocardial hypertrophy, often due to mutations in cardiac sarcomere protein genes such as beta-myosin heavy chain (MYH7) and myosinbinding protein C (MYBPC3). However, a significant proportion of HCM cases lack identified genetic mutations, and genotype-phenotype correlations remain unclear. Concurrently, potential associations between HCM and human leukocyte antigen (HLA) types, as well as connective tissue diseases, have been proposed. In this single-center study, we aimed to investigate the genetic and HLA profiles of patients with obstructive hypertrophic cardiomyopathy (HOCM) and connective tissue diseases, particularly focusing on the prevalence of genetic variants and HLA types. We conducted a detailed analysis of five patients with HOCM and connective tissue diseases and sarcoidosis, identifying rare variants in causative genes for HCM in two cases and observing specific HLA types that were relatively common. Notably, 15% of all HOCM cases presented with connective tissue diseases, mainly rheumatoid arthritis. These findings underscore the complexity of HCM etiology and suggest potential implications for both diagnostic strategies and therapeutic approaches in patients with concomitant inflammatory conditions.

    Keywords: Hypertrophic Cardiomyopathy, Genetic mutations, human leukocyte antigen, Rheumatoid arthritis, Connective Tissue Diseases

    Received: 14 May 2024; Accepted: 23 Jul 2024.

    Copyright: © 2024 Hiraya, Murakoshi, Igarashi, Xu and Ishizu. This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) or licensor are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.

    * Correspondence: Daigo Hiraya, Faculty of Medicine, University of Tsukuba, Tsukuba, Japan

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