Genetic Causes of Syndromic and Non-Syndromic Congenital Heart Disease

Congenital heart disease (CHD) is the most common human congenital defect, and a leading cause of death in infants. With an incidence that varies between 0.8 to 2% in neonates, congenital heart disease contributes to a much larger fraction of stillbirths.(Goldmuntz 2001; Loffredo 2000) Additionally, undiagnosed mild malformations of the heart often appear later in adulthood or remain undiagnosed for life. If these are included, some expect a prevalence of CHD that is up to 4% among all newborns.(Loffredo 2000) An additional contributor to the rising prevalence of CHD among adults is the advance in diagnostics and medical and surgical treatments of children with CHD, which is allowing them, in the majority of cases, to get their heart defect, fixed and sustain a normal life into adulthood.(van der Bom and others 2011) Management of the increasing number of adult patients living with CHD is becoming more and more complicated due to the fact that many patients with mild cardiac lesions are missed during childhood and later appear with complications due to these defects such as heart failure, but even more due to the improvements in diagnosis and surgical care of pediatric patients which are allowing them to survive to adulthood and have their own children.