| Title: |
Circulating Acylcarnitines Associated with Hypertrophic Cardiomyopathy Severity: an Exploratory Cross-Sectional Study in MYBPC3 Founder Variant Carriers |
| Authors: |
Jansen, Mark; Schmidt, AF; Jans, JJM; Christiaans, I; van der Crabben, SN; Hoedemaekers, YM; Dooijes, D; Jongbloed, JDH; Boven, LG; Lekanne Deprez, RH; Wilde, AAM; van der Velden, J; de Boer, RA; van Tintelen, JP; Asselbergs, FW; Baas, AF |
| Source: |
Journal of Cardiovascular Translational Research , 16 pp. 1267-1275. (2023) |
| Publisher Information: |
Springer Science and Business Media LLC |
| Publication Year: |
2023 |
| Collection: |
University College London: UCL Discovery |
| Subject Terms: |
Acylcarnitine; Biomarker; Hypertrophic Cardiomyopathy; MYBPC3; Metabolism |
| Description: |
Hypertrophic cardiomyopathy (HCM) is a relatively common genetic heart disease characterised by myocardial hypertrophy. HCM can cause outflow tract obstruction, sudden cardiac death and heart failure, but severity is highly variable. In this exploratory cross-sectional study, circulating acylcarnitines were assessed as potential biomarkers in 124 MYBPC3 founder variant carriers (59 with severe HCM, 26 with mild HCM and 39 phenotype-negative [G + P-]). Elastic net logistic regression identified eight acylcarnitines associated with HCM severity. C3, C4, C6-DC, C8:1, C16, C18 and C18:2 were significantly increased in severe HCM compared to G + P-, and C3, C6-DC, C8:1 and C18 in mild HCM compared to G + P-. In multivariable linear regression, C6-DC and C8:1 correlated to log-transformed maximum wall thickness (coefficient 5.01, p = 0.005 and coefficient 0.803, p = 0.007, respectively), and C6-DC to log-transformed ejection fraction (coefficient -2.50, p = 0.004). Acylcarnitines seem promising biomarkers for HCM severity, however prospective studies are required to determine their prognostic value. |
| Document Type: |
article in journal/newspaper |
| File Description: |
text |
| Language: |
English |
| Relation: |
https://discovery.ucl.ac.uk/id/eprint/10171869/7/Schmidt_Circulating%20Acylcarnitines%20Associated%20with%20Hypertrophic%20Cardiomyopathy%20Severity_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10171869/ |
| Availability: |
https://discovery.ucl.ac.uk/id/eprint/10171869/7/Schmidt_Circulating%20Acylcarnitines%20Associated%20with%20Hypertrophic%20Cardiomyopathy%20Severity_VoR.pdf; https://discovery.ucl.ac.uk/id/eprint/10171869/ |
| Rights: |
open |
| Accession Number: |
edsbas.BE8891E1 |
| Database: |
BASE |