Genetic and Environmental Contributors To Congenital Heart Disease

Paradigms surrounding congenital heart disease (CHD) etiology represent an evolving area of study. Traditionally, genetic causes of CHD have been classified into chromosomal abnormalities, copy number variation, and single-gene disorders, while environmental contributors include external and intrinsic maternal factors that impair cardiac development. Here, we summarize established causes of CHD and highlight emerging insights into CHD pathogenesis that may inform future treatment options.

Recent advancements in next-generation sequencing technologies have uncovered novel genetic etiologies underlying CHD including oligogenic inheritance and pathogenic noncoding variation. In addition, industrialization and transformation of society has introduced new environmental risk factors that may contribute to CHD. Further, mechanistic insight into both genetic and environmental factors underlying CHD has led to discovery of novel therapeutic strategies.

New methodologies have greatly improved our comprehension of the heterogeneous mechanisms underlying CHD, catalyzing the discovery of effective therapeutic strategies to reduce CHD incidence.