Congenital heart disease (CHD)
Congenital heart diseases are related to heart defects that develop during pregnancy and are present at birth (congenital). Congenital heart defects are the most common type of birth defect, affecting one of every 100 babies born in the United States. There are many different kinds of defects. They can affect blood flow to the lungs and body. Combinations of defects can create complicated conditions. All require careful diagnosis and management or treatment.
Babies with congenital heart problems at Children’s Hospital of Wisconsin are treated by expert, experienced fetal and pediatric heart specialists who are part of the Herma Heart Center team. These specialists developed many of the practices used worldwide for treating the rarest and most complex congenital heart defects, including surgical repair techniques. Herma Heart Center surgeons are among the busiest in the country and include several of the few board-certified congenital heart disease surgeons in the country.
Approximately 1 percent of all live-born infants have a congenital heart defect. This means that in the United States, approximately 25,000 to 30,000 babies are born each year with some type of congenital heart disease.
Heart development occurs very early in gestation – during the first seven weeks.
Causes of congenital heart disease
Experts do not know what causes most congenital heart defects. There are a few known potential causes:
- An infection during pregnancy, such as rubella (German measles), can interfere with heart development
- A genetic or chromosomal abnormality, such as Down syndrome, can result in a congenital heart defect
- A chronic health issue with the mother, such as insulin-dependent diabetes, seems to cause an increased incidence of congenital heart defects in babies
However, doctors cannot find a cause for heart defects in most children.
Prenatal diagnosis of congenital heart disease
The prenatal (before birth) diagnosis of most congenital heart diseases (CHD) may be suspected during a routine ultrasound. An ultrasound during pregnancy may indicate some types of congenital heart disease. If your obstetrician sees something on routine ultrasound that looks unusual, he or she may refer you to a maternal-fetal medicine specialist (a doctor who specializes in high-risk pregnancies). This doctor will likely perform more tests to determine if your baby has a heart disorder and evaluate for any associated birth defects.
You may also need to see a pediatric cardiologist. This doctor will do another type of ultrasound called a fetal echocardiogram. It looks specifically at the heart and its chambers, valves and vessels. With this type of ultrasound, a pediatric cardiologist can rule out or definitively diagnose CHD. If your baby is positioned in a way that makes it difficult to see all areas of the heart, you may be asked to have more than one echocardiogram to confirm the diagnosis or just to get a better look at another area of the heart that was not viewed well on the initial exam.
How does a congenital heart disease diagnosis affect pregnancy?
Most likely, your pregnancy and care will continue normally. You will have regular visits with your obstetrician to have your blood pressure and urine checked and your weight monitored. Depending on whether your baby is otherwise healthy and your pregnancy is normal and healthy, you may or may not have additional tests.
If you do have additional tests, they may include:
Ultrasounds: You may have more ultrasounds than normal to check on your baby's growth and to monitor the function of his or her heart. One of these ultrasounds will be a targeted ultrasound, which looks specifically at your baby’s heart.
Amniocentesis: Congenital heart disease may or may not be associated with other anomalies, genetic syndromes or chromosomal abnormalities. Your maternal-fetal medicine specialist will decide whether or not you need amniocentesis to evaluate your baby’s chromosomes after he or she sees the results of your targeted ultrasound. During an amniocentesis, a physician will insert a needle through the abdominal wall into the uterus to remove a small amount of amniotic fluid. The fluid is sent to a lab for testing. Final test results are usually available in 10 to 14 days.
When you know that your baby has a heart disorder prior to delivery, it can give your baby the best chances of getting the treatment he or she needs in the timeliest manner.
Find out how a simple screening at birth can help detect congenital heart disease.
Will labor and delivery be normal?
Labor and delivery will not be affected if your baby is diagnosed with congenital heart disease. Most babies will tolerate labor and delivery without any problems. There is no need to do a cesarean section for a baby with congenital heart disease. If you do require a C-section, it will be for other reasons, including:
- Maternal pelvis size is too small for the size of the baby
- Failure of labor to progress
- Position of the baby (other than head down)
- A baby whose heart rate is dropping due to labor
The cardiothoracic surgeons prefer to operate on bigger babies, so it is best to try to go as close to full term as you can. If your labor is induced, it will be done a week or two before your due date.
Where should I deliver my baby?
Depending on your baby’s diagnosis, your doctor may recommend that you deliver at a hospital that has:
- A level III or IV Neonatal Intensive Care Unit
- A pediatric cardiologist
- Cardiothoracic surgeons
It may be important for your baby to be born at a hospital with these things so that he or she can be cared for properly after delivery.
What will happen in the NICU?
In most cases, your baby will go to the NICU after delivery. There, a pediatric cardiologist will perform an echocardiogram to better evaluate his or her heart.
Some heart diseases require administration of prostaglandins. These are medications that keep the heart circulation more like it was while your baby was still in the womb. If your baby has one of these diseases, we will provide the proper care. Read more about fetal heart circulation.
Who treats congenital heart disease?
If your child has congenital heart disease, he or she will be treated by a number of specialists.
- Pediatric cardiologists care for infants and children with congenital heart disease. If your baby is diagnosed with congenital heart disease, you will meet with a pediatric cardiologist who will perform a fetal echocardiogram, or “echo,” to confirm the diagnosis. Fetal echo is an ultrasound of your baby's heart and its circulation. After diagnosis, the doctor will work with you to develop a plan of care for after your baby is born.
- Pediatric cardiothoracic or cardiovascular surgeons are the specialists who perform heart surgery on infants and children with CHD. You also may meet with these specialists before your baby is born to discuss surgical options, should the need arise.
- Neonatologists are pediatricians who have received extra training in the care of newborns with special problems. At birth, a neonatologist will begin to care for your child.
Learn more about the heart and circulation
AHA classification of congenital heart disease
There are three common classifications of congenital heart disease, according to the American Heart Association. These are:
- Septal defects
- Obstructive defects
- Cyanotic defects
The septum is the wall that separates the right and left sides of the heart. Normally there is no communication between the right and left side after birth.
Different types of septal defects
Sometimes babies are born with an abnormal hole in the septum. The hole can be between the two upper chambers of the heart (atriums) or the lower chamber of the heart (ventricles). If the hole is between the atriums, it is called an atrial septal defect or ASD. If the hole is between the ventricles, it is called a ventricular septal defect or VSD.
Treatment for septal defects
Most septal defects will not require any type of surgical repair. When surgical care is necessary, doctors usually elect to perform surgery later in life rather than during the newborn period.
Medical treatment may include continued observation for spontaneous closure and/or medications. The medications most commonly used are digoxin and lasix. Digoxin helps the heart beat stronger, and lasix assists the body in getting rid of extra fluid.
- Atrial septal defect accounts for approximately 5 to 10 percent of all congenital heart disease. Because it is difficult to differentiate a PFO from an ASD, the exact incidence is difficult to establish.
With an ASD, there is a hole in the septum (wall between the right and left atrium). In the normal heart, the right side handles unoxygenated blood, and the left side handles blood rich in oxygen.
ASDs vary in size. They all allow oxygen-rich blood from the left side of the heart to mix with blood headed to the lungs to become oxygenated. This makes for very inefficient function and too much blood going to the right side and then being pumped into the lungs. This can cause some serious side effects if left untreated.
For example, The right side can become dilated or enlarged. The larger the size of the ASD, the greater the effects on heart and lung function.
Surgical repair requires heart-lung bypass. Postoperative hospital stay varies depending on the type of ASD (there are 3 basic types of ASD), but can range from 4 days to 2 weeks.
- Ventricular septal defect is the most common CHD. It accounts for 20 to 25 percent of all congenital heart disease and disorders.
With a VSD, there is a hole in the septum (wall between the right and left ventricles). In the normal heart, the right side handles unoxygenated blood, and the left side handles blood rich in oxygen. These defects can vary greatly in size, but they all allow oxygen rich blood in the left ventricle to mix with blood depleted of oxygen in the right ventricle.
Most children with VSDs will not have to have surgery during the newborn period. Instead, doctors will monitor them. However, in some cases, the heart may be overworked because too much blood is being pumped to the lungs from the right ventricle. This is very inefficient since blood that already has been filled with oxygen by the lungs is returned to the lungs. When this happens, the heart may become enlarged. Some babies may not grow normally if the VSD is large and allows a lot of mixing. Surgical repair requires heart-lung bypass. Postoperative hospital stay averages 5 to 7 days.
Obstructive cardiac anomalies
In an obstructive disorder, the blood flow is restricted or completely blocked. This blockage or narrowing can occur in any of the four heart valves or above or below the valve. The blockage (atresia) or narrowing (stenosis) can occur in vessels returning blood to the heart (veins) or in vessels pumping blood out of the heart (arteries).
- Aortic stenosis accounts for approximately 5 percent of all CHD. Aortic stenosis is a narrowing of the aortic valve. The aorta is the large artery that supplies oxygen-rich blood to the body. The aortic valve is within the heart's left ventricle and acts as the entrance to the aorta.
Depending on the severity of the stenosis, the symptoms at birth can vary from none to decreased blood flow and decreased oxygenation to the body.
As the PDA closes, the symptoms usually become more acute. Sometimes, a percutaneous balloon valvuloplasty (opening of a valve) can effectively relieve the valve obstruction. This procedure involves a special catheter (tube) containing a balloon being passed through the aortic valve. The surgeon inflates the balloon to stretch the valve open. The surgical repair aims to relieve the obstruction of blood flow through the aortic valve. This procedure requires heart-lung bypass. Postoperative hospital stay averages 7 to 10 days.
- Pulmonary stenosis accounts for approximately 5 to 8 percent of all CHD. Pulmonary stenosis is a narrowing of the pulmonary valve. The pulmonary artery is the artery that takes blood to the lungs from the right ventricle. The pulmonary valve is within the heart's right ventricle. It is the entrance to the pulmonary artery.
Because of the narrowing of the valve, the right ventricle needs to work harder to get blood past the blockage. If the pressure in the right ventricle is high, some form of treatment is indicated.
In some cases, the valve can be stretched open with a percutaneous balloon valvuloplasty (opening of a valve). This procedure involves a special catheter (tube) containing a balloon being passed through the pulmonary valve. The balloon is inflated to stretch the valve open.
In other cases, surgical repair of the valve will be necessary. The surgical repair is aimed at relieving the obstruction of blood flow through the pulmonary valve. This procedure requires heart-lung bypass. Postoperative hospital stay averages 5 to 7 days.
- Coarctation of the aorta accounts for approximately 8 percent of all CHD. Coarctation of the aorta is a narrowing of some portion of the aorta. This narrowing is usually found just past the arch of the aorta, opposite the area of the PDA.
The aorta is the large artery that supplies blood to the whole body. The left ventricle pumps blood through the aortic valve into the aorta and eventually to the body. Some infants will have no symptoms at birth, but can develop symptoms within the first week of life. Surgical intervention is required to open the narrowed area of the aorta to allow free blood flow to the body. This surgical repair requires heart-lung bypass. Postoperative hospital stay averages 4 to 7 days.
Cyanosis is a bluish discoloration of the skin due to less than normal levels of oxygen in the blood. With cyanotic defects, cyanosis is the major symptom because the blood that is circulated is not oxygenated adequately.
Many babies with cyanotic defects will appear healthy at birth because the circulation still is following the fetal circulation path. This circulation path provides adequate communication of oxygenated blood with unoxygenated blood to perfuse the body. But after a couple of days to a week, once these fetal structures begin to close, the infant becomes seriously ill and requires immediate interventions to keep oxygen saturation levels adequate to supply the body.
- Tetralogy of Fallot accounts for approximately 10 percent of all CHD. Tetralogy is comprised of four components.
- The first component is a narrowing of the pulmonary valve. The pulmonary valve is the entrance to the pulmonary artery found in the right ventricle. Because of this narrowing, less blood is pumped from the right ventricle into the lungs. The severity of narrowing ranges from child to child.
- The second component is a large VSD, which is a hole between the ventricles. This allows large amounts of unoxygenated blood from the right ventricle to pass into the left ventricle without going to the lungs. The body is supplied with blood that is depleted of oxygen.
- Another component is the increased musculature of the right ventricle in comparison to the left because of the increased effort required to get blood through the narrowed pulmonary valve.
- The last component is the displacement of the aorta. The aorta lies directly over the VSD. Because of this placement, it will more readily pick up the unoxygenated blood that is normally found in the right ventricle.
Often, a palliative surgical procedure called a BT shunt is done first to improve pulmonary blood flow. Surgeons perform corrective surgery or total repair later to allow time for right and left pulmonary arteries to grow. Heart-lung bypass is required for each surgical procedure. Postoperative hospital stay after the BT shunt averages 1 to 2 weeks.
- Transposition of the great vessels accounts for approximately 5 percent of all CHD. Normally, the right side of the heart collects the unoxygenated blood and pumps it to the lungs via the pulmonary artery. The left side of the heart receives the blood from the lungs and pumps it out to the body via the aorta. With transposition, the aorta connects to the right ventricle (rather than the left), so instead of the right ventricle pumping blood to the lungs, it pumps it back to the body.
On the left side of the heart, the pulmonary artery connects to the left ventricle, which pumps the blood that returns from the lungs back to the lungs. There are two separate circuits at work. One handles and recirculates the unoxygenated blood from and to the body; the other handles and recirculates the oxygenated blood from and to the lungs.
Babies with transposition of the great vessels need the PFO and PDA to remain open so there is mixing of oxygenated blood with unoxygenated blood. Corrective surgery requires heart-lung bypass and is done in the newborn period after the baby has been given a couple days to adjust to life outside the uterus.
The surgical repair is aimed at returning the arteries back to their normal position. Postoperative hospital stay averages 1 to 2 weeks.
- Tricuspid atresia: Atresia means blockage. The tricuspid valve is the passageway between the right atrium and right ventricle. In tricuspid atresia, the right atrium is unable to allow blood flow into the right ventricle because the valve is blocked. Since the right ventricle has not been working, it becomes smaller in size and becomes underdeveloped.
This defect may be seen with a single ventricle, which means instead of a left and right ventricle, there is just one large ventricle. The survival of an infant with tricuspid atresia depends upon communication between the right and left atriums via an atrial septal defect, as well as a ventricular septal defect, if there are two ventricles.
While the infant is inutero, or before he or she is born, there is a natural connection between the atriums called the PFO or patent foramen ovale. This is a normal structure in fetal circulation. This structure will need to remain open even after delivery.
The surgical intervention required depends upon the heart’s structure. The repair is normally complicated and done in stages. The initial surgical procedure, called the BT shunt, is aimed at increasing the pulmonary blood flow. Postoperative hospital stay for the initial procedure averages 5 to 7 days.
- Pulmonary atresia accounts for less than 1 percent of all CHD. Atresia means blockage. The pulmonary valve is the entrance in the right ventricle to the pulmonary artery. The pulmonary artery carries blood from the right ventricle to the right and left lungs.
If there is a VSD (hole in the ventricular septal wall) associated with this defect, it is generally considered to be part of the spectrum of tetralogy of Fallot. However, if this blockage is associated with an intact ventricular septum (no hole or VSD), it may also be referred to as hypoplastic right ventricle.
In this scenario, the right ventricle and the tricuspid valve are poorly developed. At birth, these babies depend upon the fetal circulation remaining intact.
The PFO or patent foramen ovale (which is a normal part of fetal circulation) allows mixing of unoxygenated blood from the right to mix with oxygenated blood on the left. The PDA or patent ductus arteriosus (also a normal fetal structure) also allows for mixing of blood, which provides a means to get blood to the lungs after the baby is born.
A baby with a VSD will most likely have a BT shunt procedure. A baby without a VSD will require a more complicated surgical repair that is performed in stages and is planned depending on the baby's specific anatomy. Postoperative hospital stay averages 1 to 2 weeks for the BT shunt.
- Truncus arteriosus accounts for less that 1 percent of all CHD. This malformation combines the aorta and pulmonary artery into one large arterial vessel rather than two. This large, single vessel usually sits above a large VSD. There are usually valve abnormalities associated with this combined vessel.
The result of the common aorta and pulmonary artery is unrestricted left-to-right blood flow, which causes congestive heart failure. The heart works harder than it normally would to oxygenate the body. CHF is a condition in which the heart is unable to keep up with the energy requirements of the body.
The surgical repair is extensive and requires heart-lung bypass. This repair is usually done at a couple days of age. Postoperative hospital stay averages 10 to 14 days.
- Total anomalous pulmonary venous connection (TAPVC) accounts for approximately 1 percent of all CHD. With this defect, the pulmonary veins that normally bring blood to the left atrium from the lungs are not connected to the left atrium. Instead, some or all of the pulmonary veins are abnormally connected and drain into the right atrium.
Babies with this condition depend upon fetal circulation remaining intact after delivery. Blood passing through the PFO allows for filling of the left atrium. The oxygen-rich blood in the pulmonary veins mixes with the oxygen-depleted blood normally found in the right atrium. This is the blood that flows into the left atrium.
From the left atrium, the blood goes into the left ventricle and is then pumped to the body via the aorta. The mixed blood that is pumped out through the aorta to the body is usually quite low in oxygen. Therefore, these babies may be blue in appearance. Surgical repair is performed at a couple days of age and requires heart-lung bypass. Postoperative hospital stay averages 10 to 21 days.
- Hypoplastic left heart syndrome (HLHS) accounts for about 1 to 2 percent of all CHD. With this syndrome, the left side of the heart is smaller than normal. The structures affected can include:
- The left ventricle
- The mitral and aortic valve
- The aorta
Babies with this disorder depend upon fetal circulation remaining intact after delivery. For oxygenated blood to reach the body, the right ventricle pumps the blood into the pulmonary artery, and some of this blood passes through the patent ductus arteriosus into the aorta and eventually to the body.
If a child with this defect does not have surgery, he or she cannot survive.
The surgical intervention required is called palliation. The left ventricle is the major muscle of the heart, and if it has not developed in the fetus, it cannot be developed later or after birth. The palliation is aimed at using the right ventricle to act as the major muscle of the heart. This is a complicated surgical repair that is done in stages.
The first surgery usually is done shortly after birth and requires heart-lung bypass. The babies can then go home with monitoring to await the next surgery. The second intervention is done at approximately 3 to 4 months of age. The final planned surgical intervention is at about 2 years of age. Postoperative hospital stay averages 5 to 7 days for the first surgery.
How do you treat congenital heart disease?
Most congenital heart disease is treated shortly after birth with a surgery to partially correct or provide relief, but not fully correct (palliate). Some surgeries are more extensive and complicated than others. Some have a much more complicated pre- and postoperative course than others do. The goal of treatment is to get the heart functioning at a level capable of providing the body with oxygenated blood. The brain and all internal organs need to be supplied with blood that has enough oxygen to maintain health.
What can I expect after surgery?
After surgery, your baby will go to the pediatric intensive care unit. All babies that have any type of heart surgery go there. This keeps all cardiac surgical patients in one place. The nurses in the PICU are very comfortable caring for postoperative cardiac patients. Some cardiac surgical patients will have their chests left open postoperatively to allow more room for the heart. In this case, the chest will be covered so you cannot see the heart or inside your baby's chest.
Why would my baby’s chest be left open?
The manipulation and time on the heart-lung bypass machine can cause swelling, which can cause the heart to need more room in the chest than normal. Another benefit of leaving the chest open is that, if there are any complications that require another surgical procedure, there will be easy access to the heart. The chest will be closed in the PICU several days after surgery. Your baby does not have to go back to the operating room.
How do you care for my baby after surgery?
Depending on the type of surgery performed, your baby could have several internal monitoring lines. These include the umbilical artery catheter, medication drips given via a central line placed while the baby was in surgery, umbilical venous catheter, as well as peripheral intravenous lines, and other tubes such as chest tube, breathing tube (ETT), NG/OG tube, urinary catheter, and cranial oximetry.
- Internal monitoring lines can be placed into almost any area of the heart to measure pressures. The staff caring for your baby will explain these lines and the reason for their use. Don't be afraid to ask questions more than one time. It is a lot of information to take in, and it will require repeated explanations to get a better understanding of why and how each line is used. Many of these lines are used for a short time for monitoring after surgery.
- The umbilical artery catheter was probably placed shortly after birth. This is a special IV line that goes into one of the arteries of the umbilical cord. Staff can give fluids and medication through this line. We also can monitor blood pressure and remove blood for tests.
- The umbilical venous catheter probably was placed shortly after birth. This is a special IV line that goes into the vein in the umbilical cord. We can give fluids and medication through this line and monitor the central venous pressure.
- Peripheral intravenous is a regular IV (like the one you may have had for delivery). We can give fluids and medication through this line.
- Endotracheal tube (ETT) is a special breathing tube placed through the vocal cords and into the windpipe. This tube is used with the ventilator to assist the baby with breathing and delivery of oxygen. This tube often will trigger increased production of secretions. To clear the secretions, nurses will suction out the tube. Because the tube goes through the vocal cords, your baby will not be able to make any sounds while the ETT is in place. He or she may appear to be crying, but you will not hear anything. Once the tube is removed, your baby may sound hoarse, but his or her normal voice will return very quickly.
- Nasal gastric/oral gastric tubes are tubes that are passed either through the mouth (oral) or nose (nasal) and into the stomach (gastric). They are left open to drain. This keeps the stomach empty of air and secretions. Eventually, the same type of tube may be used to feed your baby.
- Chest tube(s) are placed to assist with re-inflating the lungs after surgery. Suction is applied to the tubes, which creates a vacuum in the chest. This allows the lungs to re-inflate. The tubes also drain any fluids that may accumulate in the chest.
- The urinary catheter is a special tube passed into your baby's bladder to drain the urine. The urine is collected in a drainage system. This way, we can accurately measure and assess how well the kidneys are making urine, and we can test the urine for a variety of things to ensure your baby's well-being.
- Cranial oximetry measures blood perfusion to the head.
Some of the medication drips (medication is given IV by a continuous infusion) your baby may be on include:
- Dopamine and/or dobutamine, which are used to maintain an adequate blood pressure.
- Epinephrine is used to treat low blood pressure.
- Captopril is used to treat high blood pressure.
- Nitroprusside (Nipride) is used to lower blood pressure.
- Phenoxybenzamine is used to control or treat high blood pressure.
- Milrinone is used to produce vasodilation (dilated blood vessels) by relaxing vascular smooth muscles.
- Neuromuscular blocking agent is used to keep your baby from moving about and/or "fighting" the ventilator. Babies taking this medication are unable to move any muscles and require mechanical ventilation while on the medication.
- Fentanyl is used for pain relief and sedation.
Will I be able to help care for my baby after surgery?
Yes. Please ask your baby's nurse about ways to interact with and care for your baby.
If you had planned to breastfeed your baby, you can begin to pump your breasts and freeze the breast milk while you are still in the hospital. A lactation consultant can answer your questions. Your milk will be frozen and stored in the NICU until your baby is ready for it. The NICU has breast pumps and private rooms available to you when you are visiting.
After surgery, your baby will be admitted to the PICU. The PICU also has the equipment and personnel available to help you with whatever concerns you may have.
The Fetal Concerns Center of Wisconsin will arrange a tour of the NICU and PICU before your baby is born. This helps you get a better idea of where your baby will go after delivery. You will see the facilities available to you as you learn to care for your baby while he or she is still in the hospital.
When can my baby go home?
Your baby can go home when he or she is eating enough to maintain weight, grow and gain weight. Some babies have to spend more time in the hospital because they have trouble eating. Because these babies are not allowed to eat initially and may have been given negative oral stimulation such as intubation, some may have a difficult time learning to eat by mouth.
Others have difficulty with oral feeding because it takes a lot of effort for a baby to eat. They may be exerting more energy eating than they are able to take in by mouth because of their compromised heart function.
If this keeps your baby in the hospital, he or she may need to have another surgical procedure to place a gastrostomy tube (G-tube) through which formula or breast milk can be given. The G-tube can be used exclusively (meaning they do not eat at all by mouth), or it can be used to supplement what your baby is taking by mouth.
Before your baby goes home, his or her heart will be functioning well enough to provide the body with oxygenated blood. If the surgery provided relief but did not fully correct the problem, the next surgery will be scheduled according to the average time babies with similar heart defects have gone between surgeries.
Care at home
Your baby may go home on medication. Some of the most common ones include:
- ASA (aspirin) is used as a blood thinner or to prevent clots
- Digoxin strengthens the hearts contractions
- Lasix assists the body with getting rid of fluids
Before you go home, we will give you instructions about any medicine your baby needs to take, the dosage, how to give it and any side effects to watch for.
What is my baby's long-term prognosis?
The long-term prognosis for babies with heart defects is getting better all the time. New surgical techniques are being developed and older techniques are being perfected. Our Interstage Home Monitoring Program has proven to help improve outcomes significantly by providing a means for parents to assess well-being at home more accurately, allowing for earlier interventions when needed. New medications that help keep babies’ hearts functioning more effectively are being used.
Learn more about congenital heart disease at these websites: