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Mechano-energetic efficiency in patients with hypertrophic cardiomyopathy with and without sarcomeric mutations.
- Source :
-
Journal of cardiovascular translational research [J Cardiovasc Transl Res] 2024 Apr; Vol. 17 (2), pp. 458-466. Date of Electronic Publication: 2023 Oct 13. - Publication Year :
- 2024
-
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.<br /> (© 2023. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)
- Subjects :
- Humans
Male
Female
Middle Aged
Adult
DNA Mutational Analysis
Myocardial Contraction
Ventricular Pressure
Young Adult
Aged
Mutation
Sarcomeres genetics
Sarcomeres metabolism
Ventricular Function, Left
Cardiomyopathy, Hypertrophic genetics
Cardiomyopathy, Hypertrophic physiopathology
Phenotype
Heart Rate
Genetic Predisposition to Disease
Stroke Volume
Subjects
Details
- Language :
- English
- ISSN :
- 1937-5395
- Volume :
- 17
- Issue :
- 2
- Database :
- MEDLINE
- Journal :
- Journal of cardiovascular translational research
- Publication Type :
- Academic Journal
- Accession number :
- 37833437
- Full Text :
- https://doi.org/10.1007/s12265-023-10441-2