What Is a Congenital Heart Defect?
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Medically reviewed by Angela Ryan Lee, MD
A congenital heart defect (CHD) occurs when the heart or its blood vessels don't develop in a fetus properly before birth. This defect usually starts to develop early in pregnancy. There are many types of CHDs, which can range in severity from mild issues like holes between heart chambers to more complex problems, such as the absence of one or more heart chambers or valves. When a baby is born, a healthcare provider will likely run tests to check the heart function and diagnose a CHD.
Having a CHD can increase the risk of developing several other conditions, such as high blood pressure in the lungs (called pulmonary hypertension), irregular heartbeats, an infection of the heart's inner lining (known as infective endocarditis), congestive heart failure, and some kidney and liver diseases.
Nearly 1% of babies born each year (which is about 40,000 babies annually) have a congenital heart defect. Most children with mild defects grow up to live normal or nearly normal lives, although they may have some limitations in physical activities. Babies with more complex heart defects may experience more significant physical limitations, developmental days, or learning disabilities. But treatment can help a child live well throughout their life.
Congenital Heart Defect Symptoms
The symptoms of CHDs can vary greatly, depending on the specific defect that you or your baby and the severity of the condition. Some common signs of a CHD include:
Cyanosis, or a blueish tint in the skin, lips, or fingernails
Fatigue or sleepiness during feedings
Poor blood flow
Rapid or labored breathing
Heart murmur (unusual sound between heartbeats)
Pulmonary edema (fluid buildup in the lungs)
Enlarged liver
Children born with CHDs often face unique challenges, including being smaller in size compared to their peers. They may also experience developmental delays in certain areas, like speech and language. A child with a CHD may also be at an increased risk of attention deficit hyperactivity disorder (ADHD).
Causes
CHDs are present at birth and often have unclear causes. However, researchers do know that they can be linked to genetic changes in a baby, which might be inherited from their parents. The severity of these defects can differ greatly, meaning that children might experience health problems that are either more or less severe than those of their parents. CHDs in a baby can also result from exposures the birth parent had during pregnancy, like having certain infections or taking medications.
It's important to note that death rates from CHDs have decreased overall. But there are notable differences among people from certain racial backgrounds. Studies show that the cause of death from a CHD is higher in Black and Hispanic children under four years of age compared to white children. For children between 5 and 17 years old, these rates have significantly dropped, but Black children still experience a higher risk of death.
Researchers are still working to understand the racial disparities in CHD cases. Some researchers suggest that systemic issues like access to quality care, availability of healthcare providers who specialize in CHD, and proper health insurance coverage play a role. Experts also suspect that racism in the healthcare system and income inequality are potential concerns. But more research is still needed to understand why Black and Hispanic children with a CHD experience a higher risk of death.
Diagnosis
A healthcare provider can diagnose a CHD before birth through a fetal echocardiogram—a type of ultrasound that takes detailed images of the to reveal any defects or problems in the heart. After a baby is born, your provider will also check blood oxygen levels to assess the newborn's heart function. If oxygen levels run low, more testing is needed.
If your baby needs additional testing, your healthcare provider may order one or more of the following tests:
Electrocardiogram (ECG/EKG): Checks for problems with the heart's rhythm and can detect issues like unusually large heart chambers or changes in the heart's position
Chest X-ray: Shows heart size and fluid in the lungs that can point out specific signs of certain CHDs
Two-dimensional echocardiography: Uses sound waves to create images of the heart and measures blood flow through the heart to determine any issues with the heart's chambers, valves, or structure
Congenital Heart Defect Treatments
If you or your baby have a congenital heart defect, your primary care provider will often work with a cardiologist (a doctor who specializes in heart conditions) to guide treatment and ongoing care. It's worth noting that children and adults with CHD may also be at risk of developing other heart conditions like congestive heart failure, heart rhythm problems, and pulmonary hypertension. So alongside treatment for a CHD, they may also need treatment for related heart conditions.
Treatment and care for CHDs can include a variety of approaches, such as:
A cardiac catheterization procedure, which uses a thin tube to take images of the heart's structure and allows for less invasive procedures to fix heart valve or blood vessel problems
Surgery to repair the structure of the heart and blood vessels
Heart transplant if your heart isn't functioning properly even with other treatments
Your healthcare team will offer guidance on how to prepare for surgery. In the days leading up to the surgery, your provider may set up a hospital tour so you or your child have an idea of where to go and what to expect. You and your family may also receive nutritional advice about what to eat (and not eat) before surgery. Your provider should also tell you what you can expect about the recovery after having heart surgery and how often you need to have follow-up appointments.
Can You Prevent a CHD?
Because a CHD doesn't have a clear cause, experts don't have enough information to understand what can prevent a heart defect. But, the National Heart, Lung, and Blood Institute recommends talking to your healthcare provider or genetic counselor about what medications you should avoid during pregnancy, how to keep underlying health conditions (like diabetes) in control, and which lifestyle changes you should be making (such as stopping smoking and drinking alcohol).
Related Conditions
People with a heart defect may experience additional health issues related to their heart condition as time progresses. The likelihood and nature of these problems can vary based on the type of heart defect they have, the number of defects present, and the severity of their condition. Common conditions related to CHD include:
Infective endocarditis (an infection that occurs when bacteria enter the bloodstream in your heart's lining or valve)
Arrhythmia (irregular heartbeat)
Pulmonary hypertension (high blood pressure in the lungs)
Liver diseases (conditions such as hepatitis or cirrhosis)
As adults with CHDs grow older, they are also more vulnerable to other common conditions that affect other adults, such as diabetes and obesity.
Living With a Congenital Heart Defect
For some, managing a heart defect may involve regular visits to a cardiologist and consistent monitoring. In cases where the defect is more serious, surgical procedures might be needed. It's important to remember that a heart defect can change over time, so ongoing medical care may be necessary, even if the defect was treated in childhood. For personalized information on how to live well with your CHD, it's best to consult with your provider.
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