Clinical Genetics in Congenital Heart Disease

Cardiac malformations have an estimated prevalence of 4-50 per 1,000 live births and are the leading cause of death in infants less than 1 year of age.1 These values may be underestimated owing to underdiagnosed heart malformations such as bicuspid aortic valve or other asymptomatic congenital heart diseases (CHD), which contribute to cardiovascular morbidity and mortality in adulthood.