Tricuspid atresia is a heart defect present at birth (congenital) in which one of the valves (tricuspid valve) between two of the heart's chambers — the upper right chamber (right atrium) and the lower right chamber (right ventricle) — isn't formed. Instead, there's solid tissue between the chambers.
If your baby is born with tricuspid atresia, blood can't flow appropriately through the heart and into the lungs to pick up oxygen as it normally would. The result is that the lungs can't supply the rest of your baby's body with the oxygen it needs. Babies with tricuspid atresia tire easily, are often short of breath and have blue-tinged skin.
Tricuspid atresia is treated with multiple surgeries. Most babies with tricuspid atresia who have surgery may live well into adulthood, though follow-up surgeries are often needed.
Tricuspid atresia symptoms become evident soon after birth, and can include:
- Blue tinge to the skin and lips (cyanosis)
- Difficulty breathing (dyspnea)
- Tiring easily, especially during feedings
- Slow growth and poor weight gain
Some babies with tricuspid atresia may also develop symptoms of heart failure, including:
- Fatigue and weakness
- Shortness of breath
- Swelling (edema) in the legs, ankles and feet
- Swelling of the abdomen (ascites)
- Sudden weight gain from fluid retention
When to see a doctor
Tell your doctor if you notice any of the above symptoms in your child.
Tricuspid atresia occurs during fetal growth when your baby's heart is developing. While some factors, such as heredity or Down syndrome, may increase your baby's risk of congenital heart defects such as tricuspid atresia, the cause of congenital heart disease is unknown in most cases.
How the heart works
Your heart is divided into four chambers — two on the right (right atrium and right ventricle) and two on the left (left atrium and left ventricle). In performing its basic job — pumping blood throughout the body — your heart uses its left and right sides for different tasks.
The right side of the heart moves blood to the lungs through the pulmonary artery. In your lungs, oxygen enriches the blood, which then circulates to your heart's left side. The left side of the heart pumps blood into a large vessel called the aorta, which circulates the oxygen-rich blood to the rest of your body.
Valves control the flow of blood into and out of the chambers of your heart. These valves open to allow blood to move to the next chamber or to one of the arteries, and they close to keep blood from flowing backward.
When things go wrong
In tricuspid atresia, the right side of the heart can't properly pump blood to the lungs because the tricuspid valve — located between the upper right chamber (right atrium) and the lower right chamber (right ventricle) — is missing. Instead, a solid sheet of tissue blocks the flow of blood from the right atrium to the right ventricle. As a result, the right ventricle is usually very small and underdeveloped (hypoplastic).
Blood instead flows from the right atrium to the left atrium through a hole in the wall between them (septum). This hole is either a heart defect (atrial septal defect) or an enlarged natural opening (foramen ovale) that is supposed to close soon after birth. If a baby with tricuspid atresia doesn't have an atrial septal defect, the baby may need a procedure to create this opening.
Once the blood flows from the right atrium to the left atrium, the heart's left side must pump blood both to the rest of the body and to the lungs. In some cases, blood flows through a natural opening between the aorta and pulmonary artery (ductus arteriosus).
The ductus arteriosus is a normal part of a baby's circulatory system before birth and usually closes soon after birth. When necessary, this passageway is kept open using medication in babies with tricuspid atresia.
Many babies with tricuspid atresia have another heart defect — a hole between the ventricles (ventricular septal defect). In these cases, some blood can flow through the hole between the left ventricle and the right ventricle, and then blood is pumped to the lungs through the pulmonary artery.
However, the valve between the right ventricle and the pulmonary artery (pulmonary valve) may be narrowed in some babies with tricuspid atresia, which can reduce the blood flow to the lungs. If the pulmonary valve isn't narrowed and if the ventricular septal defect is large, too much blood may flow to the lungs, which can lead to heart failure.
Some babies with tricuspid atresia have another defect, in which the pulmonary artery and the aorta are switched, causing blood flow to be impaired and unable to flow through its normal cycle. If this occurs, the baby generally needs a ventricular septal defect between the ventricles, in order for the blood to flow from the left ventricle to the right ventricle. If the ventricular septal defect is narrowed and blood flow is reduced, a ductus arterious may be needed to allow blood to flow between the aorta and pulmonary artery.
Some babies may have other heart defects as well.
In most cases, the exact cause of a congenital heart defect, such as tricuspid atresia, is unknown. However, several factors may increase the risk of a baby being born with a congenital heart defect, including:
- A mother who had German measles (rubella) or another viral illness during early pregnancy
- A parent who has a congenital heart defect
- Drinking alcohol during pregnancy
- Smoking before or during pregnancy
- A mother who has poorly controlled diabetes
- A mother who has lupus, an autoimmune disorder
- Use of some types of medications during pregnancy, such as the acne drug isotretinoin (Claravis, Amnesteem, others), some anti-seizure medications and some bipolar disorder medications
- The presence of Down syndrome, a genetic condition that results from an extra 21st chromosome
The most significant complication of tricuspid atresia is a lack of oxygen to your baby's tissues (hypoxemia). This can be life-threatening.
Complications later in life
Although treatment greatly improves the outcome for babies with tricuspid atresia, they may still have complications later in life, even after surgery, which may include:
- Formation of blood clots that may lead to a clot blocking an artery in the lungs (pulmonary embolism) or to a stroke
- Easily tiring when participating in sports or other exercise
- Heart rhythm abnormalities (arrhythmias)
- Certain complications in the lymphatic system
Whether problems are first noted in the hospital or later by you and your primary care doctor, eventually your baby will be seen by a cardiologist who has experience in treating congenital heart defects.
Because appointments can be brief and because there's often a lot to discuss, it's a good idea to be well-prepared for your appointment with the cardiologist. Here's some information to help you get ready, and what to expect from your cardiologist.
What you can do
- Write down any symptoms you've noticed in your child, including any that may seem unrelated to a heart defect.
- Write down important personal information, including any family history of congenital heart disease, or any illnesses or potentially negative habits the mother may have had during pregnancy.
- Take a family member or friend along, if possible. Learning that your baby has a serious heart condition and will need surgery is likely to be distressing, making it harder to remember all of the details your doctor may go over with you. If someone is with you, they can help you remember what the doctor said, or they can take notes during the appointment.
- Write down questions to ask your doctor.
Preparing a list of questions can help you ensure that you cover all of the points you want to. For a congenital heart defect, some basic questions to ask your child's cardiologist include:
- What could be causing my child's symptoms?
- Are there other possible causes for these symptoms?
- What kinds of tests will my child need? Do these tests require any special preparation?
- What treatments are available, and which do you think is best for my child?
- Will my child need more than one surgery?
- How can I make my child more comfortable?
- Are there any restrictions or special instructions that I need to follow for my child?
- Will my child need to take medications? If so, are there generic alternatives to the medicines you're prescribing?
- What about future pregnancies? Is there any way I can prevent this from happening again?
- Are there any brochures or other printed material that I can take home with me? What websites do you recommend visiting?
In addition to the questions that you've prepared to ask your doctor, don't hesitate to ask additional questions during your appointment.
What to expect from your doctor
Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask:
- When did you first notice symptoms in your child?
- Have your child's symptoms been continuous or occasional?
- What, if anything, seems to improve your child's symptoms?
- Does anything make your child's symptoms worse?
Because of advances in ultrasound technology, it's possible for a baby to be diagnosed with tricuspid atresia before he or she is born. Doctors can usually identify the condition on a routine ultrasound exam during gestation.
After your baby is born, his or her doctor may suspect a heart defect, such as tricuspid atresia, if your baby has blue-tinged skin or is having trouble breathing.
Your baby's doctor may also suspect a heart defect if he or she hears a heart murmur when listening to your baby's heart using a stethoscope during a physical exam. A heart murmur is an abnormal whooshing sound caused by turbulent blood flow.
If tricuspid atresia is suspected, your baby's doctor may order tests including:
Echocardiogram. Doctors usually use an echocardiogram to diagnose tricuspid atresia and to rule out other heart conditions that could be causing reduced or increased blood flow to the lungs. This test uses sound waves that bounce off your baby's heart to produce moving images your baby's doctor can view on a video screen.
In a baby with tricuspid atresia, the echocardiogram reveals the absence of a tricuspid valve and a smaller than normal right ventricle. Because this test tracks blood flow, it can also measure the amount of blood moving through holes in the walls between the right and left sides of the heart and blood flow to the lungs.
In addition, an echocardiogram can identify associated heart defects, such as an atrial septal defect, a patent foramen ovale, transposition of the great arteries or a ventricular septal defect.
- Electrocardiogram (ECG). An electrocardiogram records the electrical activity of the heart, and it can determine whether the heart's chambers are enlarged.
- Pulse oximetry. This test measures how much oxygen is in your baby's blood. A sensor is placed over the end of your baby's finger to record the amount of oxygen in your baby's blood.
- Chest X-ray. A chest X-ray may show whether the heart and heart chambers are enlarged. It can also show the blood flow in the lungs.
- Cardiac catheterization. In this test, a thin, flexible tube (catheter) is inserted into a blood vessel at your child's groin and guided through it into the heart. This test is rarely used to diagnose tricuspid atresia. However, doctors may order the test to examine the heart prior to surgery to treat tricuspid atresia.
There isn't currently a way to replace the defective tricuspid valve. Treatment for tricuspid atresia involves surgery to ensure adequate blood flow through the heart and into the lungs, allowing your baby's body to receive the proper amount of oxygen-rich blood. Often, this requires more than one surgical procedure. Medications also may be given before surgery.
Your child will likely need more than one surgical procedure to correct tricuspid atresia. Some of these procedures are called palliative surgeries, because they're done as a temporary fix to immediately increase blood flow. Following are some of the procedures babies with tricuspid atresia may require:
- Atrial septostomy. This procedure creates or enlarges the opening between the heart's upper chambers (atria) to allow more blood to flow from the right atrium to the left atrium.
Shunting. Creating a bypass (shunt) from the main blood vessel leading out of the heart (aorta) to the pulmonary arteries allows for adequate blood flow to the lungs.
- Pulmonary artery band placement. If your baby has too much blood flowing to the lungs from the heart, a surgeon may place a band around the pulmonary artery to reduce the amount of blood flowing through the pulmonary artery.
Glenn procedure. When babies outgrow the first shunt, they often require the Glenn procedure — a surgery that sets the stage for the more permanent corrective surgery, called the Fontan procedure.
Doctors usually perform the Glenn procedure when a child is between 3 and 6 months old. Doctors remove the first shunt, and then connect one of the large veins that normally returns blood to the heart (the superior vena cava) to the pulmonary artery instead. This allows oxygen-poor blood to flow directly to the lungs. The procedure reduces the workload on the left ventricle, decreasing the risk of damage to it.
Fontan procedure. This surgery is the standard treatment of tricuspid atresia. However, most children with tricuspid atresia don't undergo the Fontan procedure until they are at least 2 years old.
During a Fontan procedure, the surgeon creates a path for the oxygen-poor blood in a blood vessel that returns blood to the heart (the inferior vena cava) to flow directly into the pulmonary arteries. The pulmonary arteries then transport the blood into the lungs.
Doctors sometimes leave an opening between the pathway and the right atrium.
Surgeons generally implant a shunt during the first four to eight weeks of life. However, babies usually outgrow this shunt and may need another surgery to replace it.
Before surgery, your child's cardiologist may recommend that your child take the medication prostaglandin to help widen (dilate) and keep open the ductus arteriosus.
To monitor his or her heart health, your baby will need lifelong follow-up care with a cardiologist who specializes in congenital heart disease.
Your child's cardiologist will tell you whether your child needs to continue taking preventive antibiotics before dental and other procedures. In some cases, your child's cardiologist may recommend limiting vigorous physical activity.
The short- and intermediate-term outlook for children who have a Fontan procedure is generally promising. Outcomes for those having surgery later in life are generally less promising. A variety of complications may occur over time and sometimes require additional procedures.
If the circulation system created by the Fontan procedure fails, then a heart transplant may be necessary. Talk to your child's doctor about his or her specific situation.
If your baby is born with tricuspid atresia, it may seem that almost all your time is spent at the hospital or at a doctor's office. But there will be time spent at home, as well. Here are some tips for caring for your child at home.
Strive for good nutrition. Your baby may have a difficult time taking in enough calories, both because he or she tires more easily during feeding and because of an increased demand for calories. It's often helpful to give your baby frequent, small feedings.
Breast milk is an excellent source of nutrition, but formula works well, too. You may find that a combination of both provides a good balance of nutrition and scheduling flexibility. Ask your doctor or hospital about available resources for pumping breast milk. Some hospitals rent breast pumps. Your child's cardiologist may also recommend nutritional supplements or visiting a dietitian for the details.
Preventive antibiotics. Your child's cardiologist will likely recommend that your child take preventive antibiotics before certain dental and other procedures to prevent bacteria from entering the bloodstream and infecting the inner lining of the heart (infective endocarditis).
Practicing good oral hygiene — brushing and flossing teeth, getting regular dental checkups — is another good way of preventing infection.
- Help your child stay active. Encourage as much normal play and activity as your child is able to tolerate, or as your doctor recommends, with ample opportunity for rest and nap time. Staying active helps your child's heart stay fit.
- Keep up with routine well-child care. Standard immunizations are encouraged for children with congenital heart defects, as well as vaccines against the flu, pneumonia and respiratory syncytial virus infections.
- Keep regular follow-up appointments with your child's doctor. Your child may need regular annual appointments with his or her doctor trained in congenital heart conditions to evaluate his or her condition. Your child's doctor may recommend several tests to evaluate your child's heart condition.
As your child grows, talk with the cardiologist about which activities are best for your child. If some are off-limits, such as competitive sports, encourage your child in other pursuits rather than focusing on what he or she can't do.
Adults with tricuspid atresia
If you're an adult with tricuspid atresia, keep regular follow-up appointments with your doctor trained in congenital heart conditions. Your doctor may recommend several tests to evaluate your condition at follow-up appointments.
Your doctor may recommend that you take preventive antibiotics before certain dental or medical procedures to prevent infective endocarditis.
Ask your doctor about what activities are best for you, and if there are any sports or activities that you may need to limit or avoid.
If you're a woman with tricuspid atresia and you're considering becoming pregnant, talk to your doctor regarding the risks of pregnancy. If you're pregnant and you have tricuspid atresia or another congenital heart condition, your doctor will likely recommend that you receive care from a doctor trained in treating women with congenital heart defects who are pregnant.
Caring for a baby with a serious heart problem, such as tricuspid atresia, can be challenging and stressful. Here are some strategies that may help make it easier:
- Try to maintain normalcy and closeness. Although you may feel uncertain at times about how to best promote your child's health, maintaining stability and a regular daily routine will help both you and your child relax and feel more secure in spite of circumstances. Even if your baby is in the hospital, try to spend as much time together as you can. If you have other children, include them as much as possible. Bonding together as a family is important for your baby's social and emotional development.
- Seek support. Ask for help from family members and friends. Talk with your child's cardiologist about support groups and other types of assistance that are available near you. The American Heart Association offers a support group called Mended Little Hearts.
- Record your baby's health history. You may want to write down your baby's diagnosis, medications, surgery and other procedures and the dates they were performed, the name and phone number of your child's cardiologist, and any other important information about your baby's care. It's also helpful to include copies of the operative reports from your child's surgeons in your records. This information will help you recall the care your child has received, and it will be useful for doctors who are unfamiliar with your baby to review his or her health history.
- Talk about your concerns. As your child grows and develops, you may worry about different aspects of your child's care. Be sure to discuss your concerns with your child's cardiologist.
Although every circumstance is different, remember that many children with congenital heart defects, such as tricuspid atresia, grow up to lead enjoyable lives.
In most cases, congenital heart defects such as tricuspid atresia can't be prevented. If you have a family history of heart defects or if you already have a child with a congenital heart defect, a genetic counselor and a cardiologist experienced in congenital heart defects can help you look at possible risks associated with future pregnancies.
Some steps you can take that might reduce your baby's risk of heart and other birth defects in pregnancy include:
- Get adequate folic acid. Take 400 micrograms of folic acid daily. This amount, which is often already in prenatal vitamins, has been shown to reduce brain and spinal cord defects, and folic acid may help prevent heart defects, too.
- Talk with your doctor about medication use. Whether you're taking prescription or over-the-counter drugs, an herbal product or a dietary supplement, check with your doctor before using them during pregnancy.
- Avoid smoking or drinking alcohol during pregnancy. Smoking or drinking alcohol can increase the risk of congenital heart defects.
- Avoid chemical exposure, whenever possible. While you're pregnant, it's best to stay away from chemicals, including cleaning products and paint, as much as you can.