Congenital Heart Defects
What Is a Congenital Heart Defect?
A congenital heart defect is a problem in the heart's structure that is there when a baby is born. Heart defects can range from mild to severe.
What Causes a Congenital Heart Defect?
Congenital heart defects happen because of incomplete or abnormal development of the fetus' heart during the very early weeks of pregnancy. Some are known to be associated with genetic disorders, such as Down syndrome.
But the cause of most congenital heart defects isn't known. While they can't be prevented, many treatments are available for the defects and related health problems.
Common Heart Defects
Common types of congenital heart defects, which can affect any part of the heart or its surrounding structures, include:
- aortic stenosis
- atrial septal defect (ASD)
- coarctation of the aorta (COA)
- patent ductus arteriosus (PDA)
- patent foramen ovale (PFO)
- tetralogy of Fallot (TOF)
- total anomalous pulmonary venous connection/return (TAPVC or TAPVR)
- truncus arteriosus
- ventricular septal defect (VSD)
What Are the Signs & Symptoms of a Heart Defect?
Because congenital defects often affect the heart's ability to pump blood and to deliver oxygen to the tissues of the body, they often produce telltale signs such as:
- a bluish tinge or color (cyanosis) to the lips, tongue, and/or nailbeds
- an increased rate of breathing or difficulty breathing
- poor appetite or difficulty feeding
- failure to thrive (weight loss or failure to gain weight)
- abnormal heart murmur
- sweating, especially during feedings
- a weaker pulse
If you notice any of these signs in your baby or child, call your doctor right away. If your doctor notices these signs, you may be referred to a pediatric cardiologist (a doctor who specializes in treating heart problems).
How Is a Heart Defect Diagnosed?
Some congenital heart defects cause serious symptoms right at birth. For those, a baby will go to the newborn intensive care unit (NICU) in the hospital for immediate evaluation by a cardiologist. Other defects might not be diagnosed until the teen years — or even adulthood.
Newborns in the U.S. are screened at least 24 hours after birth to look for serious congenital heart problems that can lower oxygen levels. This screen is a simple, painless test using a machine called a pulse oximeter. The oximeter uses a sensor put on a baby's skin that estimates how much oxygen is in the baby's blood. This test can help spot heart problems early on so that they can be treated right away. The screening will find most serious heart defects, but some babies who test normal could still have a problem, especially COA or other defects on the left side of the heart.
After a complete physical exam, including evaluation of the baby's heart rate and blood pressure, the cardiologist will order an electrocardiogram (EKG).
The cardiologist will probably order an echocardiogram — a test that uses sound waves to create a picture of the heart and its circulation. Echocardiograms are the primary tool for diagnosing congenital heart defects.
A fetal echocardiogram is a specialized type of ultrasound that allows diagnosis of heart problems in utero. This can be done as early as 16–18 weeks into the pregnancy. These tests are ordered when a possible heart abnormality is seen on a level II ultrasound. They're also done if another close family member has a congenital heart defect or if the mother has a condition, such as diabetes, that might make a heart problem in the fetus more likely.
When Should I Call the Doctor?
If you think your child may have a heart problem or you notice any signs (such as difficulty breathing or feeding, or blue lips or tongue) that concern you, call your doctor. If your baby suddenly turns very blue or loses consciousness, call 911.
More treatments than ever are available for congenital heart defects, and most defects are treated successfully. Children with heart problems are best cared for by a team of specialists, which usually will include:
- pediatric cardiologists
- pediatric heart surgeons
- pediatric cardiac anesthesiologists
- doctors specialized in the intensive care of children with heart problems and specialized nurses, nurse practitioners, physician assistants, and many others
Many kids with heart problems benefit from having their hearts fixed surgically or through a cardiac catheterization procedure. The sooner they get medical attention, the better the chances for the fullest recovery possible.
With all the medical resources available, a congenital heart defect won't necessarily prevent a child from leading a normal life. By working with the health care team, you'll get the best care possible for your child.