The influence of genetic mutations on multilayer global longitudinal strain values in patients with hypertrophic cardiomyopaty

Abstract Background Hypertrophic cardiomyopathy (HCM) is a hereditary heart muscle disorder characterized by diverse genetic mutations. Multilayer global longitudinal strain (GLS) analysis has emerged as a valuable tool for assessing myocardial function. This study aimed to investigate the influence of genetic mutations on myocardial deformation patterns in HCM patients using multilayer GLS analysis. Methods A total of 83 adult patients diagnosed with HCM were included in the study. Genetic testing was performed to identify specific genetic mutations associated with HCM. Echocardiographic assessments were conducted to measure multilayer GLS values for endocardial, mid-myocardial, and epicardial layers. Patients were divided into gene-positive and gene-negative groups for comparative analysis. Results In the gene-negative group (n=41), the mean age was 57.1 ± 11.0 years, whereas in the gene-positive group (n=42), it was 55.5 ± 11.6 years (p=0.516). Significant differences were observed in endocardial (-16.1 ± 2.3 vs. -13.4 ± 3.2, p < 0.001) and mid-myocardial (-14.2 ± 2.1 vs. -12.3 ± 3.1, p = 0.002) GLS involvement between gene-negative and gene-positive HCM patients. However, no significant disparity in epicardial strain was detected. Conclusion The findings demonstrated a greater involvement of the endocardial and mid-myocardial layers in the group of HCM patients with positive genetic mutations. Multilayer GLS analysis has the potential to aid in the identification of subtle alterations in myocardial function associated with specific genetic mutations, contributing to refined risk assessment and personalized management strategies for HCM patients.