Abstract Cardiac fibrosis in congenital heart disease (CHD) is associated with poor outcomes, but the genetic risk factors have not been clearly outlined. This review details genes important for regulation of normal cardiac development or fibrosis, particularly cilia-related genes. Specific CHD pathologies have different patterns of fibrosis, likely from interaction between genetic mutations and environmental factors. Future studies are more feasible as tools like single-cell RNAseq and patient-derived organoids have become more affordable and easier to implement. A better understanding of genetic risk factors for fibrosis in CHD could improve diagnosis and treatment for these patients.
Zeigler et al. (2026) studied this question.