The Role of Genetics in Development of Congenital Heart Disease

Genetic abnormalities are a known etiological factor in the development of most congenital heart diseases. We continue to expand our understanding of the complex nature of genetic involvement and the multifactorial processes leading to the development of congenital heart disease. This chapter reviews many aspects of the role of genetic factors in congenital heart diseases, including chromosomal abnormalities, copy number variations, and monogenic diseases as well as the interaction of these factors with environmental factors to produce aberrations in the normal fetal development of cardiovascular structures. Finally, the most common genetic syndromes, known to be associated with congenital heart diseases, are reviewed.