The causes of congenital heart defects among most babies are unknown. Some babies have heart defects because of changes in their genes or chromosomes. Congenital heart defects also are thought to be caused by a combination of genes and other risk factors, such as exposures to things in the environment, maternal diet, or maternal medication use. As medical care and treatment have advanced, infants with congenital heart defects are living longer and healthier lives. Many now are living into adulthood and it is estimated that nearly one million adults in the United States are living with a congenital heart defect. It is important for children and adults living with a congenital heart defect to see a specialized health care provider regularly throughout their lives.
Some congenital heart defects may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates pictures of the heart of the fetus. However, some congenital heart defects are not detected until later in life, during childhood or adulthood. Usually, though, congenital heart defects are diagnosed at birth or shortly afterward.
Congenital heart defects account for nearly 30% of infant deaths due to birth defects. In the United States, about 7,200 (or 18 per 10,000) babies born every year have critical congenital heart defects (CCHDs, which also are known as critical congenital heart disease). These CCHDs are coarctation of the aorta, double-outlet right ventricle, D-transposition of the great arteries, Ebstein anomaly, hypoplastic left heart syndrome, interrupted aortic arch, pulmonary atresia (intact septum), single ventricle, total anomalous pulmonary venous connection, tetralogy of Fallot, tricuspid atresia, and truncus arteriosus. Babies with CCHDs usually require surgery or catheter intervention in the first year of life. CCHDs can potentially be detected using pulse oximetry screening, which is a test to determine the amount of oxygen in the blood and pulse rate. Pulse oximetry screening is most likely to detect these CCHDs.
Some babies born with a heart defect appear healthy at first and can be sent home with their families before their heart defect is detected. It is estimated that about 300 infants with an unrecognized CCHD are discharged each year from newborn nurseries in the United States. These babies are at risk of having serious complications within the first few days or weeks of life and often require emergency care. Newborn screening using pulse oximetry can identify some infants with a CCHD before they show signs of a CCHD. Once identified, babies with a CCHD can be seen by cardiologists and can receive specialized care and treatment that can prevent disability and death early in life. Treatment can include medications and surgery.
To learn more about CHDs and CCHDs, please visit some of the links below.
Center for Disease Control (CDC) information on CHDs
Cove Point Foundation (John's Hopkins Medical Center) information on CHDs