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Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations

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Abstract

Hypertrophic cardiomyopathy (HCM) is mainly caused by sarcomeric mutations which may affect myocardial mechano-energetic efficiency (MEE). We investigated the effects of sarcomeric mutations on MEE. A non-invasive pressure/volume (P/V) analysis was performed. We included 49 genetically screened HCM patients. MEEi was calculated as the ratio between stroke volume and heart rate normalized by LV mass. Fifty-seven percent (57%) HCM patients carried a sarcomeric mutation. Patients with and without sarcomeric mutations had similar LV ejection fraction, heart rate, LV mass, and LV outflow gradient. Younger age at diagnosis, family history of HCM, and lower MEEi were associated with presence of sarcomeric mutation (p = 0.017; p = 0.001 and p = 0.0001, respectively). Lower MEEi in HCM with sarcomeric mutation is not related to significant differences on filling pressure as shown on P/V analysis. Sarcomeric mutations determine a reduction of the LV pump performance as estimated by MEEi in HCM. Lower MEEi may predict a positive genetic analysis.

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Author notes

  1. Felice Borrelli and Raffaella Lombardi contributed equally to the study.

Authors and Affiliations

  1. Department of Advanced Biomedical Sciences, University Federico II of Naples, Via S Pansini, 5, I-801313, Naples, Italy

    Felice Borrelli, Raffaella Lombardi, Grazia Canciello, Gaetano Todde, Giovanni Esposito & Maria-Angela Losi

  2. Department of Molecular Medicine and Medical Biotechnologies, University Federico II of Naples, Via S Pansini, 5, I-801313, Naples, Italy

    Giulia Frisso

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  1. Felice Borrelli
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Borrelli, F., Lombardi, R., Canciello, G. et al. Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations. J. of Cardiovasc. Trans. Res. 17, 458–466 (2024). https://doi.org/10.1007/s12265-023-10441-2

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