{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T22:25:32Z","timestamp":1787869532177,"version":"build-2784847793"},"reference-count":32,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2026,8,28]],"date-time":"2026-08-28T00:00:00Z","timestamp":1787875200000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Genet."],"abstract":"<jats:sec>\n                    <jats:title>Objective<\/jats:title>\n                    <jats:p>This study aimed to characterize the clinical features and identify serum differential metabolites in children with left-to-right shunt congenital heart disease (CHD) complicated by neurodevelopmental abnormalities (NDA) and harboring CHD7 mutations, to elucidate potential pathogenic mechanisms.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>A case-control study was conducted with three groups: seven children with CHD7-mutant CHD-NDA, 24 children with isolated CHD, and nine healthy controls. Serum metabolomic profiling was performed using untargeted liquid chromatography-tandem mass spectrometry (LC-MS\/MS) in both positive and negative ion modes.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>The metabolomic profiles showed a tendency toward separation among the CHD7-mutant CHD-NDA, isolated CHD, and healthy control groups. Candidate differential metabolites were mainly enriched in steroid hormone biosynthesis, glyoxylate and dicarboxylate metabolism, ascorbate and aldarate metabolism, and glutathione metabolism in the CHD7-mutant group compared with the isolated CHD group. Compared with healthy controls, the CHD7-mutant group also showed candidate alterations related to steroid hormone biosynthesis, riboflavin metabolism, and folate biosynthesis. Two overlapping candidate metabolites, 11-deoxycortisol and 2-hydroxyestrone, were identified across pairwise comparisons and may represent potential metabolic markers related to steroid metabolism.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The metabolic disturbances observed in children with CHD7-associated CHD-NDA may be related to steroid metabolism and hypothalamic-pituitary axis regulation. These preliminary findings suggest a potential metabolic link between CHD7 mutations, cardiac phenotypes, and neurodevelopmental abnormalities, warranting further validation in larger, sex-matched cohorts.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.3389\/fgene.2026.1885466","type":"journal-article","created":{"date-parts":[[2026,8,27]],"date-time":"2026-08-27T22:10:08Z","timestamp":1787868608000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Metabolomic analysis of children with congenital heart disease complicated by neurological developmental abnormalities and CHD7 mutations"],"prefix":"10.3389","volume":"17","author":[{"given":"Xianghui","family":"Huang","sequence":"first","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wanting","family":"Li","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Lin","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dan","family":"Li","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Huiyue","family":"Zhang","sequence":"additional","affiliation":[{"name":"Jinjiang Municipal Hospital (Shanghai Sixth People\u2019s Hospital Fujian)","place":["Jinjiang, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuandan","family":"Chen","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wei","family":"Sheng","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University, Shanghai Key Laboratory of Birth Defects","place":["Shanghai, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Deyi","family":"Zhuang","sequence":"additional","affiliation":[{"name":"Children\u2019s Hospital of Fudan University (Xiamen Branch), Xiamen Children\u2019s Hospital, Fujian Key Laboratory of Neonatal Diseases, Xiamen Key Laboratory of Neonatal Diseases","place":["Xiamen, China"]},{"name":"Xiamen Neonatal Quality Control Center","place":["Xiamen, China"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2026,8,28]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"1614","DOI":"10.1016\/j.jacc.2023.08.013","article-title":"Magnetic resonance spectroscopy of brain metabolism in fetuses with congenital heart disease","volume":"82","author":"Andescavage","year":"2023","journal-title":"J. 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