Editor’s Pick: Genetics and Pathophysiology of Co-occurrence of Congenital Heart Disease and Autism Spectrum Disorder

Abstract

There is increasing evidence demonstrating that children with congenital heart disease (CHD) have a greater risk of developing autism spectrum disorder (ASD) in later life. This review aims to summarise the genetics and pathophysiology underlying both conditions. A PubMed search was performed to identify relevant studies exploring the comorbidities of ASD and CHD. The comorbidities of ASD and CHD can be explained by the influence of common and rare variants that contribute to genetic risks. De novo mutations in chromatin remodelling genes, and common genetic loci in the development of brain and heart in utero, can lead to the co-occurrence of ASD and CHD. Furthermore, there are several cases of syndromic ASD with concurrent CHD presentation. Foetuses with CHD may have abnormal haemodynamic changes and alteration of brain circulation in utero, resulting in impaired development of the brain, and increased risk of ASD. Abnormal brain development or brain injury as observed in MRI studies of infants with CHD may also contribute to the risk of ASD. Children with CHD should have regular neurodevelopmental assessment to screen for ASD symptoms for early diagnosis and intervention.