Genetics of Congenital Heart Disease

Abstract

Congenital heart disease is the most common birth defect, affecting 0.7% of liveborn infants [1]. There is overwhelming evidence supporting a genetic etiology for most congenital heart defects in humans [2]. This inc1udes familial occurrences and a high recurrence rate, an association with specific chromosomal disorders, and the high occurrence rate of congenital defects in dysmorphic syndromes. To date, there is a limited number of genes that has been demonstrated to cause congenital heart defects in humans. That number is bound to increase rapidly with the completion of the human genome sequencing project. In this review, congenital heart defects are defined as those defects that are present and can be diagnosed at birth. Other structural heart defects in which specific genes have been identified, including cardiomyopathies, long QT syndrome and Marfan syndrome, are discussed in separate chapters.