Work

Sarcomere gene mutations leading to lower myocardial work values in hypertrophic cardiomyopathy

Year: 2025

Type: article

Abstract: Background Sarcomere gene mutations is hypertrophic cardiomyopathy (HCM) can have prognostic value and role in risk assessment, according to numerous studies. In our previous investigations, we confirmed that echocardiographic parameters of left ventricular (LV) myocardial work (MW) derived from the non-invasive pressure-strain curve were reduced in patients with HCM, especially in the case of clinical features with advanced disease. The aim of our present work was to investigate the MW parameters in genotyped HCM patients. Patients and Methods We examined 75 genotyped HCM patients [48 men (64%), age 51±12 years], who underwent standard and 2D-speckle tracking echocardiography. The patients were divided into sarcomere mutation positive (P/LP+, n=32) and mutation negative (P/LP-, n=43) groups based on carrying a pathogenic/probably pathogenic (P/LP) sarcomere gene variant. Later we extended our examination to patients with variants of unknown significance (VUS). Results There was no significant difference between the demographic (age, gender, BMI, BSA) and laboratory (troponin T, NTproBNP) parameters of the P/LP+ and P/ LP- groups. Also, no significant difference was found in most echocardiographic parameters (LAV, LAVI, LVmax, EF, SV, SV index, TAPSE) between the two groups, except that the proportion of obstructive patients was higher in the P/LP group (p=0.026) and the resting (p= 0.004) and provoked (p=0.0082) LVOT gradients were higher. Despite of no difference in the GLS value in the two groups (p=0.850), the P/LP+ group had lower global work index [GWI: p=0.0035), global constructive work (GCW: p=0.0006), and global wasted work (GWW: p=0.0098), while global work efficiency (GWE: p=0.485) did not differ. The differences remained even when patients carrying variants of unknown significance (VUS+) were examined in a separate group (GWI: p=0.013; GCW: p=0.001; GWW: p=0.005). Summary These results indicate that the pathological gene mutation underlying HCM, leads to lower myocardial work values, even with a similar morphological or functional appearance. The latter observation further confirms the possible role of MW parameters in the prognosis of HCM.

Source: European Heart Journal - Cardiovascular Imaging

DOI: 10.1093/ehjci/jeae333.205