Kim Minjeong, Kim Yoonjung, Chung Hyemoon, Seo Jiwon, Park Chul Hwan, Kim Tae Hoon, Rim Se-Joong, Lee Kyung-A, Choi Eui-Young
Division of Cardiology, Ewha Woman's University Mokdong Hospital, Seoul, Republic of Korea.
Department of Laboratory Medicine, Gangnam Severance Hospital, Yonsei University College of Medicine, 211 Eonju-Ro, Gangnam-Gu, Seoul, 06273, Republic of Korea.
Sci Rep. 2025 Jan 4;15(1):799. doi: 10.1038/s41598-025-85201-0.
Myocyte disarray and fibrosis are underlying pathologies of hypertrophic cardiomyopathy (HCM) caused by genetic mutations. However, the extent of their contributions has not been extensively evaluated. In this study, we investigated the effects of genetic mutations on myofiber function and fibrosis patterns in HCM. A total of 133 patients with HCM underwent chamber geometry, late gadolinium enhancement (LGE), and T1-mapping evaluation using 1.5T cardiac magnetic resonance (CMR) imaging, echo-derived diastolic function analyses, and genetic testing. Left ventricular (LV) segmental and global longitudinal strain (LS), circumferential strain (CS), and rotation were measured using feature tracking analysis. Patients with sarcomere-associated mutation (SM, n = 41) exhibited lower LV-CS (all three slices) and higher basal rotation, along with a higher prevalence of midepicardial LGE. The relationship between SM and LV-CS was independent of LGE amount (ß = 0.239, p = 0.008). However, global LS and E/e' were not correlated with SM but were associated with LV mass index and LGE extent. SM was significantly correlated with the presence of midepicardial LGE (odds ratio 5.81, 95% confidence interval 2.15-15.72, p = 0.001), independent of LV mass index, hypertrophy pattern and E/e'. Augmented LV basal segmental rotation was significantly associated with dynamic obstruction. Circumferential fiber dysfunction and midepicardial fibrosis were related to SM, independent of the extent of LV hypertrophy. However, longitudinal fiber function was correlated to the extent of hypertrophy and fibrosis, regardless of SM. Subendocardial fibrosis did not show a significant association with SM.
心肌细胞排列紊乱和纤维化是由基因突变引起的肥厚型心肌病（HCM）的潜在病理特征。然而，它们的作用程度尚未得到广泛评估。在本研究中，我们调查了基因突变对HCM中肌纤维功能和纤维化模式的影响。共有133例HCM患者接受了1.5T心脏磁共振（CMR）成像的腔室几何形态、延迟钆增强（LGE）和T1映射评估、超声心动图衍生的舒张功能分析以及基因检测。使用特征跟踪分析测量左心室（LV）节段性和整体纵向应变（LS）、圆周应变（CS）和旋转。肌节相关突变（SM，n = 41）的患者表现出较低的LV-CS（所有三个层面）和较高的基底旋转，以及心外膜中层LGE的较高患病率。SM与LV-CS之间的关系独立于LGE量（β = 0.239，p = 0.008）。然而，整体LS和E/e'与SM无关，但与LV质量指数和LGE范围相关。SM与心外膜中层LGE的存在显著相关（优势比5.81，95%置信区间2.15-15.72，p = 0.001），独立于LV质量指数、肥厚模式和E/e'。增强的LV基底节段旋转与动态梗阻显著相关。圆周纤维功能障碍和心外膜中层纤维化与SM相关，独立于LV肥厚程度。然而，纵向纤维功能与肥厚和纤维化程度相关，与SM无关。心内膜下纤维化与SM未显示出显著关联。
