Why the study?
Impaired left ventricular myocardial work is known in HCM, but whether it occurs in sarcomere mutation carriers without left ventricular hypertrophy was unconfirmed.
Does myocardial work assessment detect early subclinical changes in sarcomere gene mutation carriers compared to healthy controls?
Does myocardial work assessment detect early subclinical changes in sarcomere gene mutation carriers compared to healthy controls?
Myocardial work indices are significantly impaired in sarcomere mutation carriers without left ventricular hypertrophy compared to healthy controls, suggesting MW is a more sensitive early marker of disease than global longitudinal strain.
May indicate preclinical dysfunction in sarcomere carriers without hypertrophy; hypothesis-generating and requires validation before clinical adoption.
BACKGROUND: Hypertrophic cardiomyopathy (HCM) is defined by unexplained hypertrophy and often characterized by diastolic and systolic dysfunction. HCM patients are known to have impaired left ventricular (LV) myocardial work (MW), a more load-independent parameter compared to global longitudinal strain (GLS). We hypothesized that impaired MW might occur in sarcomere mutation carriers without LV hypertrophy. METHODS AND RESULTS: A single centre study with a case-control design. Patients with overt nonobstructive HCM and a causal sarcomere gene variant (n = 44), carriers (n = 51) and age and sex matched (to the carriers) healthy controls (n = 32) underwent a transthoracic echocardiogram including myocardial deformation analysis to calculate GLS and MW. Global work index (GWI) (1695 ± 332mmHg% vs. 1881.50 ± 490mmHg%, p = 0.001) and global constructive work (GCW) (2017.78 ± 323.05mmHg% vs. 2329.31 ± 485.44 mmHg%, p = 0.002) were lower in sarcomere mutation carriers compared to controls. LV ejection fraction and GLS were similar between these two groups. GWI (1209 ± 735mmHg% vs. 1695 ± 332mmhg%, p < 0.001), GCW (1456 ± 703mmHg% vs. 1993 ± 389mmHg%, p < 0.001), global wasted work (GWW) (117 ± 148mmHg% vs. 96 ± 69mmHg%, p = 0.006) and global work efficiency (GWE) (89 ± 7% vs. 95 ± 3%, p < 0.001)] were worse in overt non-obstructive HCM patients. CONCLUSION: We show for the first time that MW indexes were significantly worse in sarcomere mutation carriers compared to controls, suggesting that MW is more sensitive to early changes than GLS and could have a significant role in the evaluation and follow-up of carriers.
No takes yet. Share an insight, caveat, or question.
Joy et al. (2025) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: