Effects of genetic mutations on left ventricular myocardial mechanics and fibrosis patterns in hypertrophic cardiomyopathy.

ABSTRACT: 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 thr

SUBMITTER: Kim M 

PROVIDER: S-EPMC11700167 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature