Progress in the Research of Genetic and Environmental Risk Factors for Congenital Heart Disease

CHD (congenital heart disease) is the most prevalent congenital anomaly among newborns, affecting nearly 1 in every 100 live births. Recent advancements in next-generation sequencing technology have facilitated rapid progress in identifying susceptibility variants and pathogenic variants associated with CHD. Furthermore, the advancement of gene editing technology has accelerated phenotypic research and mechanism analysis of genetic causes. Environmental factors, which are another risk factor for CHD, have garnered considerable attention. However, limitations in sample collection for exposure detection during pregnancy have impeded research on their role and mechanism in the development of CHD, resulting in slow progress. Over the past decade, the application of single-cell omics, elementomics, and metabolomics based on cohort samples has played a pivotal role in investigating genetic and environmental risk factors. This article reviews existing literature from both genetic and environmental perspectives to provide references for preventing and controlling CHD while suggesting future research directions.