Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations.

Children with CHD7-mutant congenital heart disease and neurodevelopmental abnormalities exhibit distinct serum metabolomic profiles, especially in steroid hormone and amino acid metabolism, with 11-deoxycortisol and 2-hydroxyestrone as potential markers.

• Why it matters: Understanding metabolic alterations in these children can reveal underlying pathogenic mechanisms linking genetic mutations, cardiac defects, and neurodevelopmental issues, addressing a critical gap in personalized diagnosis and treatment.
• What they did: The study analyzed serum samples from children with CHD7 mutations, isolated CHD, and healthy controls using untargeted LC-MS/MS, identifying differential metabolites across groups and pathways involved in steroid and amino acid metabolism.
• The result: Findings suggest metabolic disturbances related to steroid hormone synthesis and hypothalamic-pituitary axis regulation in CHD7-mutant children, providing potential biomarkers and insights for targeted interventions, pending validation in larger cohorts.