Transcription Factor Pathways and Congenital Heart Disease

摘要: Congenital heart disease is a major cause of morbidity and mortality throughout life. Mutations in numerous transcription factors have been identified patients families with some the most common forms cardiac malformations arrhythmias. This review discusses factor pathways known to be important for normal development how abnormalities these linked morphological functional congenital defects. A comprehensive, current list mutations associated provided, but focuses primarily on three key factors, Nkx2-5, GATA4, Tbx5, their biochemical genetic partners. By understanding interaction partners, transcriptional targets, upstream activators core additional information about formation further insight into genes affected should result.