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There are many types of congenital heart defects — or heart defects that are present at birth.
Common defects usually affect the heart muscles separating the chambers or the heart valves. There are also rare and serious defects, such as when the heart's main chamber is missing or the heart is twisted.
Pennsylvania law requires all newborns to undergo a noninvasive test to check for critical heart defects before leaving the hospital.
Doctors define congenital heart defects as problems with the structure or function of the heart that are present at birth.
Congenital heart defects (CHDs) happen when either the heart or nearby blood vessels don’t develop as they should in the womb. This happens very early in pregnancy, often before you even know you're pregnant.
Also called congenital heart disease, CHD is the most common birth defect.
Most people are unaware of the impact of CHD, despite their prevalence. According to the Centers for Disease Control and Prevention, 1 in 4 people who noted a heart defect in their medical records had a severe congenital heart defect, meaning it likely required surgery or other procedures in their first year of life.
The good news is that early detection could mean earlier treatment for babies with CHD.
Congenital heart defects are very common. There are more than two million people in the U.S. living with congenital heart defects.
CHD is 30 times more common than cystic fibrosis, and 50 times more common than childhood cancer.
Each year:
The most common type of heart defect is ventricular septal defect.
There are many types of congenital heart defects and critical congenital heart defects (CCHD), which are a group of serious inborn heart defects.
Critical congenital heart disease keeps the heart from pumping effectively and decreases the oxygen level of the blood. This can result in organ and tissue damage throughout the body due to lack of oxygen, which can be life-threatening. Babies born with CCHD usually need surgery soon after birth.
Types of congenital heart disease include:
Types of critical congenital heart disease include:
The causes of heart defects in most babies are unknown.
Some babies have heart defects because of changes in their genes or chromosomes. Some heart defects may be caused by a combination of genetics and other risk factors, including the mother’s environment, diet, medication, and lifestyle choices.
In addition, certain health conditions — such as diabetes or obesity — have been linked to congenital heart defects. Smoking during pregnancy has also been linked.
Genetic disorders (which you might not realize you have) and environmental exposure (like to an infection or drug) may increase the risk of congenital heart defects.
Congenital heart defects are the leading cause of infant death due to birth defects. CHD may also cause related lifelong issues.
As the cause of most CHD is unknown, it's hard to prevent.
But if you're pregnant, we encourage you to ask about your baby's heart health whenever you have an ultrasound, typically between 18 and 22 weeks. The reason? At least half of all babies born with a heart congenital heart defect aren't diagnosed during pregnancy.
Although babies born with congenital heart defects may look healthy for the first few hours or days of life, signs and symptoms soon become apparent.
The symptoms of congenital heart defects depend on the type and severity of the particular defect. Some defects might have few or no symptoms.
Others might cause a baby to have the following symptoms:
You can be on the lookout for potential undiagnosed CHD in your baby by watching for signs of heart defects.
During your child's well-visits, a pediatrician will use a stethoscope to listen to your baby's heart. They’ll check for beats per minute, strength of the heart, and a “whooshing” sound that means a normal blood flow.
If your provider hears a heart murmur (abnormal pitch or intensity in heart sounds), they may suspect a defect. An echocardiogram, an ultrasound test of the heart, can confirm the diagnosis.
Part of the reason for your child's well-visits is to make sure he or she is growing appropriately. When there’s a defect, it places a lot of strain on the heart. This strain can cause the heart to beat faster or harder than normal to pump enough blood around a baby's body. If that happens, the baby will need a lot of calories just to keep the heart pumping.
If your child isn't gaining weight but is eating often and a lot, this may signal a heart problem. Your provider will determine if it's metabolic or cardiovascular in nature.
If your child has shortness of breath or bluish-grayish skin color, they may lack oxygen. In this event, take your child to the emergency department so they can be seen immediately.
Many infants have congestion and coughs. But there are times when a serious heart defect causes a baby to have difficulty breathing. If your baby appears winded or struggles to breathe, tell your pediatrician. They'll make sure your child's lungs and heart are functioning properly.
Finally, all babies are known to spit up or gag at times. If your baby’s gagging is more the norm than the exception, ask your pediatrician to check for acid reflux, allergies, or other problems, which may include a heart defect.
In some instances, blood vessels from the heart become tangled and wrap themselves around the trachea (breathing tube) or esophagus (feeding tube), which can squeeze and constrict those areas, causing breathing or feeding trouble.
CHDs may be diagnosed during pregnancy using a congenital echocardiogram. This is a special type of ultrasound that creates ultrasound pictures of the heart of the developing baby.
After birth, if your health care provider suspects a CHD may be present, several tests can be done, such as an echocardiogram, to confirm the diagnosis.
But some CHDs aren't detected until after birth or even later in life, during childhood or adulthood.
Congenital heart defect treatment depends on the type and severity of the condition diagnosed.
Some conditions may be treated without surgery through a procedure called cardiac catheterization. In a heart cath, a long tube (catheter) is threaded through the blood vessels into the heart. Once inside, the doctor can take pictures and measurements, do tests, or repair the defect.
Some conditions may need one or more surgeries to repair the heart or blood vessels. Sometimes, the defect can’t be completely repaired, but these procedures can improve blood flow and heart function.
By UPMC Editorial Staff. Last reviewed on 2024-09-05.
