Congenital Heart Disease

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Congenital Cardiovascular Defects
Statistical Fact Sheet 2016 Update (American Heart Association)

Congenital cardiovascular defects, also known as congenital heart defects, are structural problems that arise from abnormal formation of the heart or major blood vessels. ICD-9 lists 25 congenital heart defects codes, of which 21 designate specified anatomic or hemodynamic lesions. Defects range in severity from tiny pinholes between chambers that may resolve spontaneously to major malformations that can require multiple surgical procedures before school age and may result in death in utero, in infancy, or in childhood.

The common complex defects include the following:

Tetralogy of Fallot (TOF)
Transposition of the great arteries
Atrioventricular septal defects (ASD)
Coarctation of the aorta
Hypoplastic left heart syndrome

Incidence

Congenital heart defects are serious and common conditions that have significant impact on morbidity, mortality, and healthcare costs in children and adults.
The most commonly reported incidence of congenital heart defects in the United States is between 4 and 10 per 1,000, clustering around 8 per 1,000 live births.
Continental variations in birth prevalence have been reported, from 6.9 per 1000 births in Europe to 9.3 per 1000 in Asia.
An estimated minimum of 40,000 infants are expected to be affected each year in the United States. Of these, about 25%, or 2.4 per 1,000 live births, require invasive treatment in the first year of life.

Mortality

Mortality related to congenital cardiovascular defects in 2013 was 3,051. Any-mention mortality related to congenital cardiovascular defects in 2013 was 4,916.

Risk Factors

Numerous intrinsic and extrinsic non-genetic risk factors contribute to congenital heart defects.

Known maternal risks include maternal smoking during the first trimester of pregnancy. Exposure to secondhand smoke has also been implicated as a risk factor.
Maternal binge drinking is also associated with an increased risk of congenital cardiac defects, and the combination of binge drinking and smoking may be particularly dangerous.
A greater risk of congenital heart defects is also seen in women who both have a high BMI. Gestational DM has also been associated with cardiac defects, both isolated and multiple.
Folate deficiency is a well-accepted risk for congenital defects, including congenital heart defects, and folic acid supplementation is recommended during pregnancy