Insights into the genetic architecture underlying complex, critical congenital heart disease.

Congenital heart disease (CHD) has a multifactorial aetiology, raising the possibility of an underlying genetic burden, predisposing to disease but also variable expression, including variation in disease severity, and incomplete penetrance. Using whole genome sequencing (WGS), the findings of this study, indicate that complex, critical CHD is distinct from other types of disease due to increased genetic burden in common variation, specifically among established CHD genes. Additionally, these findings highlight associations with regulatory genes and environmental stressors in the final presentation of disease.

Automated summary

This study, using whole genome sequencing, found that complex, critical congenital heart disease is distinct from other types of disease due to increased genetic burden in common variation, specifically among established CHD genes. These findings also highlight the associations with regulatory genes and environmental stressors in the final presentation of the disease.