Department of Cardiology, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, Hainan, China.
Central Laboratory, Haikou Affiliated Hospital of Central South University Xiangya School of Medicine, Hainan, China.
Anatol J Cardiol. 2024 Nov;28(11):513-522. doi: 10.14744/AnatolJCardiol.2024.4653.
Hypertrophic cardiomyopathy (HCM) is a prevalent genetic cardiovascular disease characterized by asymmetric thickening of the left ventricular wall, frequently occurring in families predisposed genetically. While HCM in twins is rare, it presents a unique opportunity to explore the disease's genetic and epigenetic underpinnings due to the phenotypic heterogeneity observed even among genetically identical individuals. This review collates and analyzes global clinical studies that focus on the twin phenomena in HCM. It explores the genetic foundations of HCM, examines the influence of environmental and epigenetic factors on disease expression, and emphasizes the crucial role of genetic screening in the early and differential diagnosis of HCM. By focusing on twin cases in HCM, this review aims to enhance our understanding of HCM's complex genetic background, which could lead to more personalized approaches in the management and treatment of this condition, thus drawing significant interest from researchers and clinicians alike.
肥厚型心肌病（HCM）是一种常见的遗传性心血管疾病，其特征为左心室壁不对称性增厚，通常在遗传易感性的家族中发生。尽管双胞胎中的 HCM 较为罕见，但由于即使在遗传上完全相同的个体中也观察到表型异质性，因此这为探索该疾病的遗传和表观遗传基础提供了独特的机会。本综述汇集并分析了专注于 HCM 双胞胎现象的全球临床研究。它探讨了 HCM 的遗传基础，研究了环境和表观遗传因素对疾病表达的影响，并强调了遗传筛查在 HCM 的早期和鉴别诊断中的重要作用。通过关注 HCM 中的双胞胎病例，本综述旨在增强我们对 HCM 复杂遗传背景的理解，这可能导致对这种疾病的管理和治疗采取更具个性化的方法，因此引起了研究人员和临床医生的极大兴趣。
