Abstract
The purpose of this study was to assess whether metabolomics, associated with echocardiography, was able to highlight pathophysiological differences between obstructive (OHCM) or non-obstructive (NOHCM) hypertrophic cardiomyopathy. Thirty-one HCM patients underwent standard and advanced echocardiography; a plasma sample was collected for metabolomic analysis. Results. Patients with OHCM compared with subjects with NOHCM had higher values of 2DLVEF (66.5 ± 3.3% vs. 60.6 ± 1.8%, p < 0.01), S wave (7.6 ± 1.1 vs. 6.3 ± 0.7 cm/s, p < 0.01) and 3D global longitudinal strain (17.2 ± 4.2%, vs. 13.4 ± 1.3%, p < 0.05). A 2-group PLS-Discriminant Analysis was performed to verify whether the two HCM groups differed also based on the metabolic fingerprint. A clear clustering was shown (ANOVA p = 0.014). The most discriminating metabolites resulted as follows: in the NOHCM Group, there were higher levels of threitol, aminomalonic acid, and sucrose, while the OHCM Group presented higher levels of amino acids, in particular those branched chains, of intermediates of glycolysis (lactate) and the Krebs cycle (fumarate, succinate, citrate), of fatty acids (arachidonic acid, palmitoleic acid), of ketone bodies (2-OH-butyrate). Our data point out a different systolic function related to a specific metabolic activity in the two HCM phenotypic forms, with specific metabolites associated with better contractility in OHCM.
Highlights
IntroductionHypertrophic cardiomyopathy (HCM) is the most common of cardiovascular pathologies with the genetic transmission
This study found that concentrations of BCAAs, triglycerides, and ether-phospholipids were higher in Hypertrophic cardiomyopathy (HCM)-bearing mutation than in controls and carriers of non-hypertrophic mutations
Analyzing the VIP obtained through multivariate analysis, we found that the BCAAs in the OHCM group were the most represented molecules, in accordance with previous investigations on hypertrophied rat hearts [14] and HCM patients [6]
Summary
Hypertrophic cardiomyopathy (HCM) is the most common of cardiovascular pathologies with the genetic transmission. It is caused by a variety of mutations, mainly concerning genes encoding cardiac sarcomeric proteins, and is characterized by rather heterogeneous clinical expression, with individual pathophysiology and natural history [1]. In vitro studies and animal models have shown that some sarcomeric HCM mutations are associated with subclinical impairment in contractile function and excessive sensitivity to Ca2+ of myofilaments. The result is an altered energy metabolism of cardiomyocytes, with an increase in ATP consumption by the cellular contractile apparatus, but with reduced efficiency of electro-mechanical coupling [2]
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