Clinical manifestations and genetics research progress of congenital heart disease with neurodevelopmental disorders in children / 中华实用儿科临床杂志

ABSTRACT

Recent studies have found that children with congenital heart disease (CHD) are at increased risk of neurodevelopmental disorders (NDDs), including cognitive, adaptive, motor, speech and autism spectrum disorders.Structural and functional neuroimaging has indicated that brain abnormalities in children with CHD might be caused by an in utero developmental insult.Specific genetic abnormalities, particularly copy number variants(CNVs), have been increasingly implicated in both CHD and NDDs.Variations in genes involved in apolipoprotein E production, the Wnt signaling pathway, and histone modification, as well as in the 1q21.1, 16p13.1-11 and 8p23.1 genetic loci, are associated with CHD and NDDs.Understanding these associations is important for risk stratification, disease classification, improving screening and pharmacologic management of individuals with CHD.