Molecular genetics of congenital heart disease

The goal of this chapter is to review the genetic basis of congenital heart disease (CHD). While the etiology of CHD is thought to be multifactorial, this chapter primarily highlights specific mutations that have been found to cause CHD. As techniques for detecting genomic changes in children with CHD continue to improve and such technology becomes available on a clinical basis, researchers and clinicians alike stand to gain a better understanding of the genetic changes that underlie CHD. In order to best comprehend its molecular basis and the larger complexities of cardiovascular genetics, it is fundamental to first review normal human cardiac development and the particular genes that drive healthy human cardiac development. Following this section, currently available genetic testing modalities will be reviewed. Finally, specific genes/loci implicated in syndromic and isolated CHD as well as genetic syndromes caused by single gene defects will be reviewed. This will include Alagille, Holt-Oram, Noonan, Char, and CHARGE syndromes.