What it is
A congenital heart defect is any problem with the heart’s structure that can be diagnosed at birth or in utero. It is the most common type of major birth disorder. Heart defects can be minor or severe. They can include such problems as holes in the walls between the heart's different chambers, narrow heart valves, or blood vessels that are incorrectly formed or positioned — a narrowing of the pulmonary valve — is one of the most common types). Another common congenital heart problem is incorrectly formed heart valves or blood vessels (pulmonary atresia — when heart tissue blocks blood flow to the lungs — is an example).
Depending on the number, type, and severity of heart defects, your child may not experience any signs or symptoms. The problem may only be diagnosed in your child much later, when he gets winded or tired from playing sports or exercising. More severe heart defects usually occur in newborns and show up shortly after birth or within the first few months of a baby’s life. They can include rapid breathing or shortness of breath, heart murmurs (irregular heart beat), difficulty feeding, poor gain weight, loss of healthy skin color, and cyanosis (a bluish tint to skin, lips, and nails due to lack of oxygen).
To detect and diagnose a heart defect, doctors use a stethoscope (to hear the heart beat and to determine if there is a heart murmur), a pulse-oximetry screening (in which a sensor is attached to a finger or toe to estimate how much oxygen is in the blood), an X-ray (to view the heart and lungs), an ultrasound called an echocardiogram (which uses sound waves to create a picture of the heart), and an electrocardiogram (which records the heart’s electrical energy). Your doctor may also note your baby has low blood pressure at a scheduled physical exam.
Researchers aren't entirely sure what causes congenital heart defects, but there is evidence that genetics is involved because a parent who has a congenital heart defect has a higher chance of having a child with a heart defect. Some genetic conditions, such as Down’s syndrome, are linked with congenital heart defects as well. Researchers also think that smoking, drinking alcohol, taking particular medications (such as some antiseizure medications and the drug thalidomide, which is used to treat cancer), and certain infections (such as rubella) during pregnancy may cause congenital heart defects.
How common it is
Estimates show that between 35,000 to 36,000 babies (eight to nine of every 1,000 infants) in the United States are born with a heart defect.
Treatment options depend on the type and severity of the heart defect — and the individual. Some minor congenital heart defects need no treatment at all. For instance, small holes between the chambers of the heart often close on their own as a child gets older. In other cases where the heart needs additional assistance, medication is given to help the heart work better. For cases in which the heart defect is diagnosed in utero, medication can sometimes even be given to the mother to help fix the problem before birth.
For heart defects in babies or children that need to be physically repaired, doctors can often perform a catheterization, a surgical procedure that’s much less invasive than open-heart surgery. During a catheterization, the doctor inserts a catheter (a long thin plastic tube) into a blood vessel in your little one’s leg or neck and then threads it all the way up to the heart. Then, tiny tools are inserted through the catheter to repair the heart. For defects that can’t be fixed with this procedure, doctors may need to do one or several open-heart surgeries on your child over several years, or in rare cases even a heart transplant.
Hope for the future
The majority of congenital heart defects — if detected early and treated in time — can be repaired and managed, though many children will need occasional checkups with cardiologists through their adult life. Long-term care from trained specialists will help them stay healthy and maintain a godo quality of life. While some children may need to limit their activity level or take precautions to prevent infections, most kids are able to play sports and games with no problem.
Where to find help
Anytime you hear the word defect attached to the word heart — especially when you're talking about your little baby — it's scary. But there are resources that can lessen your fears, keep you informed about your child’s options and the latest advances in cardiac care, and get you connected to parents facing the same set of challenges that you are who can share tips and support. Check out these organizations: