Abstract
Congenital heart disease is the most common type of birth defect. It is well known that congenital heart disease can occur in the setting of multiple birth defects as part of various chromosomal and/or genetic disorders. Even in isolated cardiac defects without chromosomal or genetic abnormalities, familial cases have also been described. Therefore, pediatric cardiologists should have thorough knowledge of these disorders and should be required to have some familiarity with the genetic backgrounds to congenital heart disease.
I present, in this review, the clinical features and genetic backgrounds of various chromosomal and gene abnormalities with congenital heart disease. And also, I would like to highlight interaction of certain genetic and environmental factors known to be involved with some congenital heart disease. We should fully recognize that the interaction between genetic backgrounds and environmental factors makes clinical features of the congenital heart disease in both a syndromic disorder and isolated defects with no syndromic association. This recognition is very important in both the clinical settings and basic research.
