Hiraya Daigo, Murakoshi Nobuyuki, Igarashi Miyako, Xu DongZhu, Ishizu Tomoko
Department of Cardiology, Institute of Medicine, University of Tsukuba, Tsukuba, Japan.
Front Genet. 2024 Aug 6;15:1432670. doi: 10.3389/fgene.2024.1432670. eCollection 2024.
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 myosin-binding 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.
肥厚型心肌病（HCM）由心肌肥厚引起，通常是由于心脏肌节蛋白基因的突变，如β-肌球蛋白重链（MYH7）和肌球蛋白结合蛋白C（MYBPC3）。然而，相当一部分HCM病例未发现基因突变，基因型与表型的相关性仍不明确。同时，有人提出HCM与人类白细胞抗原（HLA）类型以及结缔组织疾病之间可能存在关联。在这项单中心研究中，我们旨在调查梗阻性肥厚型心肌病（HOCM）合并结缔组织疾病患者的基因和HLA谱，特别关注基因变异和HLA类型的患病率。我们对5例HOCM合并结缔组织疾病和结节病的患者进行了详细分析，在2例患者中发现了HCM致病基因的罕见变异，并观察到相对常见的特定HLA类型。值得注意的是，所有HOCM病例中有15%合并结缔组织疾病，主要是类风湿性关节炎。这些发现强调了HCM病因的复杂性，并提示了对合并炎症性疾病患者的诊断策略和治疗方法的潜在影响。
