Article
Untargeted Metabolomics Identifies Potential Hypertrophic Cardiomyopathy Biomarkers in Carriers of MYBPC3 Founder Variants.
International journal of molecular sciences - 17 Feb 2023
Jansen Mark, Schuldt Maike, van Driel Beau O, Schmidt Amand F, Christiaans Imke, van der Crabben Saskia N, Hoedemaekers Yvonne M, Dooijes Dennis, Jongbloed Jan D H, Boven Ludolf G, Deprez Ronald H Lekanne, Wilde Arthur A M, Jans Judith J M, van der Velden Jolanda, de Boer Rudolf A, van Tintelen J Peter, Asselbergs Folkert W, Baas Annette F
Abstract excerpt
Hypertrophic cardiomyopathy (HCM) is the most prevalent monogenic heart disease, commonly caused by pathogenic MYBPC3 variants, and a significant cause of sudden cardiac death. Severity is highly variable, with incomplete penetrance among genotype-positive family members. Previous studies demonstrated metabolic changes in HCM. We aimed to identify metabolite profiles associated with disease severity in carriers...
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