NKX2.5 mutations and congenital heart disease: is it a marker of cardiac anomalies?

Congenital heart defects (CHD) are the leading cause of morbidity and mortality in infants, the etiology of most CHD remains unknown, with the influence of genetics still topic of debate. Heterozygous mutations in the transcription factor, NKX2.5, were among the first evidence of genetic cause for congenital heart disease. For the prevention of CHD identification of specific genetic causes for congenital cardiac malformations will provide insight into the developmental mechanisms that result in normal and abnormal cardiac development and will allow for improved family counseling.