Metabolomic profiling reveals amino acid dysregulation in congenital heart disease: Arginine-induced embryonic malformations and pathogenic insights.

ABSTRACT: Congenital heart disease (CHD) is the most common form of malformation seen in China. In most cases, its pathogenesis is unclear. The present study aimed to identify the differential metabolites and novel screening markers to discover the potential pathogenesis of CHD. Cultured amniotic fluid cells from pregnant patients carrying CHD-affected (n=24) or healthy (n=24) fetuses were collected. Untargeted metabolomics was performed on the cells. A total of 292 metabolites (172 up- and 120 downregulated) were significantly different between the CHD and control groups (variable importance on projection >1 and P<0.05). Significantly different metabolites were screened and analyzed using hierarchical clustering and Kyoto Encyclopedia of Genes and Genomes metabolic pathway enrichment. These data de

SUBMITTER: Li Z 

PROVIDER: S-EPMC12329727 | biostudies-literature | 2025 Oct

REPOSITORIES: biostudies-literature