Congenital Heart Disease and Genetics

Improvements in the diagnosis and treatment of congenital heart disease have drastically reduced the morbidity and mortality associated with such defects. Knowledge regarding the genetic contributions to congenital heart disease is considered to be in its infancy; however, the field of cardiovascular genetics in humans is moving at a rapid pace. This article discusses what is currently known about the genetic contribution to congenital heart disease, including structural defects and congenital cardiac arrhythmias. Genetic and chromosomal syndromes that involve the heart are reviewed along with genetic testing.