What is a Congenital Heart Defect (CHD)
Learn more about CHDs and spread awareness about a little-known birth defect.
- Congenital heart defects (CHDs) are problems with the heart’s structure that are present at birth.
- Common examples include holes in the inside walls of the heart and narrowed or leaky valves. In more severe forms of CHDs, blood vessels or heart chambers may be missing, poorly formed, and/or in the wrong place.
- CHDs are the most common birth defects. CHDs occur in almost 1% of births.
- An approximate 100-200 deaths are due to unrecognized heart disease in newborns each year. These numbers exclude those dying before diagnosis.
- Nearly 40,000 infants in the U.S. are born each year with CHDs.
- CHDs are as common as autism and about twenty-five times more common than cystic fibrosis.
- Approximately two to three million individuals are thought to be living in the United States with CHDs. Because there is no U.S. system to track CHDs beyond early childhood, more precise estimates are not available.
- Thanks to improvements in survival, the number of adults living with CHDs is increasing. It is now believed that the number of adults living with CHDs is at least equal to, if not greater than, the number of children living with CHDs.
- CHDs are the most common cause of infant death due to birth defects.
- Approximately 25% of children born with a CHD will need heart surgery or other interventions to survive.
- Over 85% of babies born with a CHD now live to at least age 18. However, children born with more severe forms of CHDs are less likely to reach adulthood.
- Surgery is often not a cure for CHDs. Many individuals with CHDs require an additional operation(s) and/or medications as adults.
- People with CHDs face a life-long risk of health problems such as issues with growth and eating, developmental delays, difficulty with exercise, heart rhythm problems, heart failure, sudden cardiac arrest or stroke.
- People with CHDs are now living long enough to develop illnesses like the rest of the adult population, such as high blood pressure, obesity and acquired heart disease.
- CHDs are now the most common heart problem in pregnant women.
- Most causes of CHDs are unknown. Only 15-20% of all CHDs are related to known genetic conditions.
- Most CHDs are thought to be caused by a combination of genes and other risk factors, such as environmental exposures and maternal conditions. Because the heart is formed so early in pregnancy, the damage may occur before most women know they are pregnant.
- Environmental exposures that may be related to risk of having a CHD include the mother’s diet and certain chemicals and medications. Maternal diabetes is a recognized cause of CHDs. Maternal obesity, smoking, and some infections also may raise the risk of having a baby with a CHD. Preventing these risk factors before a pregnancy is crucial.
- A baby’s risk of having a CHD is increased by 3 times if the mother, father, or sibling has a CHD.
- In 2009, the hospital cost for roughly 27,000 hospital stays for children treated primarily for CHDs in the U.S. was nearly $1.5 billion. In the same year, hospital cost for roughly 12,000 hospital stays of adults treated primarily for CHD was at least $280 million.
- A significant number of adults with CHD in the U.S. report having problems obtaining insurance and coverage for specialized care.
- Compared to the general population, adults with CHD have 3 – 4 times higher rates of Emergency Room visits, hospitalizations, and Intensive Care Unit stays.
- Fewer than 10% of adults with CHDs in the U.S. who need care from specialty adult CHD centers are receiving this recommended care.
About 1 in 4 babies born with a heart defect has a critical CHD (also known as critical congenital heart defect).1 Babies with a critical CHD need surgery or other procedures in the first year of life.
Listed below are examples of different types of CHDs. The types marked with a star (*) are considered critical CHDs.
- Atrial Septal Defect
- Atrioventricular Septal Defect
- 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*
- Single Ventricle*
- Tetralogy of Fallot*
- Total Anomalous Pulmonary Venous Return*
- Tricuspid Atresia*
- Truncus Arteriosus*
- Ventricular Septal Defect
Signs and Symptoms
Signs and symptoms for CHDs depend on the type and severity of the particular defect. Some defects might have few or no signs or symptoms. Others might cause a baby to have the following symptoms:
- Blue-tinted nails or lips
- Fast or troubled breathing
- Tiredness when feeding
Some CHDs may be diagnosed during pregnancy using a special type of ultrasound called a fetal echocardiogram, which creates ultrasound pictures of the heart of the developing baby. However, some CHDs are not detected until after birth or later in life, during childhood or adulthood. If a healthcare provider suspects a CHD may be present, the baby can get several tests (such as an echocardiogram) to confirm the diagnosis.
Treatment for CHDs depends on the type and severity of the defect present. Some affected infants and children might need one or more surgeries to repair the heart or blood vessels. Some can be treated without surgery using a procedure called cardiac catheterization. A long tube, called a catheter, is threaded through the blood vessels into the heart, where a doctor can take measurements and pictures, do tests, or repair the problem. Sometimes the heart defect can’t be fully repaired, but these procedures can improve blood flow and the way the heart works. It is important to note that even if their heart defect has been repaired, many people with CHDs are not cured. See more information about living with a CHD below.
The causes of CHDs among most babies are unknown. Some babies have heart defects because of changes in their individual genes or chromosomes. CHDs also are thought to be caused by a combination of genes and other factors, such as things in the environment, the mother’s diet, the mother’s health conditions, or the mother’s medication use during pregnancy. For example, certain conditions a mother has, like pre-existing diabetes or obesity, have been linked to heart defects in the baby.2,3 Smoking during pregnancy as well as taking certain medications have also been linked to heart defects.2,3
Living with a CHD
As medical care and treatment have advanced, infants with CHDs are living longer and healthier lives. Many children with CHDs are now living into adulthood. It is estimated that more than two million individuals in the United States are living with a CHD. Many people with a CHD lead independent lives with little or no difficulty. Others might develop disability over time. Some people with a CHD have genetic problems or other health conditions that increase their risk for disability.
Even with improved treatments, many people with a CHD are not cured, even if their heart defect has been repaired. People with a CHD can develop other health problems over time, depending on their specific heart defect, the number of heart defects they have, and the severity of their heart defect. For example, some other health problems that might develop include irregular heart beat (arrhythmias), increased risk of infection in the heart muscle (infective endocarditis), or weakness in the heart (cardiomyopathy). People with a CHD need routine checkups with a cardiologist (heart doctor) to stay as healthy as possible. They also might need further operations after initial childhood surgeries. It is important for people with a CHD to visit their doctor on a regular basis and discuss their health, including their specific heart condition, with their doctor.
- Oster M, Lee K, Honein M, Colarusso T, Shin M, Correa A. Temporal trends in survival for infants with critical congenital heart defects. Pediatrics. 2013;131(5):e1502-8.
- Jenkins KJ, Correa A, Feinstein JA, Botto L, Britt AE, Daniels SR, Elixson M, Warnes CA, Webb CL. Noninherited risk factors and congenital cardiovascular defects: current knowledge: a scientific statement from the American Heart Association Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics. Circulation. 2007;115(23):2995-3014.
- Patel SS, Burns TL. Nongenetic risk factors and congenital heart defects. Pediatr Cardiol. 2013;34(7):1535-55.