Tricuspid atresia

Overview

Tricuspid atresia is a heart problem present at birth, known as a congenital heart defect. The valve isn't formed between the two right heart chambers. Instead, a solid sheet of tissue blocks the blood flow between the right heart chambers. The condition limits blood flow through the heart. Tricuspid atresia causes the right lower heart to be underdeveloped.

People with tricuspid atresia can't get enough oxygen through the body. So they tire easily and they are often short of breath. Their skin and lips may look blue or gray.

Tricuspid atresia is treated with multiple surgeries. Most babies with tricuspid atresia who have surgery live well into adulthood, though follow-up surgeries are often needed.

Other names for tricuspid atresia are:

• Tricuspid valve atresia
• TV atresia

Symptoms

Tricuspid atresia symptoms are usually seen soon after birth. Symptoms of tricuspid atresia may include:

• Blue or gray skin and lips due to low blood oxygen levels
• Difficulty breathing
• Tiring easily, especially during feedings
• Slow growth and poor weight gain

Some people with tricuspid atresia also develop symptoms of heart failure. Heart failure symptoms include:

• Fatigue and weakness
• Shortness of breath
• Swelling in the legs, ankles and feet
• Swelling of the belly area, a condition called ascites
• Sudden weight gain from a buildup of fluid

When to see a doctor

Serious congenital heart defects are diagnosed before or soon after your child is born. If you notice that your baby has changes in skin color, trouble breathing, slow growth or poor weight gain, contact your health care provider.

Causes

Most congenital heart defects, including tricuspid atresia, result from changes that occur early as the baby's heart is developing before birth. The exact cause is usually unknown.

How the heart works

To understand more about tricuspid atresia, it may be helpful to know how the heart typically works.

The heart is divided into four chambers, two on the right and two on the left.

• The right upper chamber is called the right atrium.
• The right lower chamber is called the right ventricle.
• The left upper chamber is called the left atrium.
• The left lower chamber is called the left ventricle. The left ventricle is the heart's main pumping chamber.

To pump blood throughout the body, the heart uses its left and right sides for different tasks.

• The right side of the heart moves blood to the lungs through the lung arteries. These are the pulmonary arteries.
• In the lungs, blood picks up oxygen and then returns to the heart's left side through the pulmonary veins.
• The left side of the heart pumps the blood through the body's main artery, called the aorta. The blood then flows out to the rest of the body.

Valves control the flow of blood into and out of the heart. The heart valves open to allow blood to move to the next chamber or to one of the arteries. The heart valves close to keep blood from flowing backward.

What happens in tricuspid atresia

In tricuspid atresia, the tricuspid valve is missing. A sheet of tissue blocks the flow of blood between the right heart chambers. There's no way for blood to move from the right upper chamber to the right lower chamber. The right side of the heart is no longer able to pump blood to the lungs.

Instead, blood flows from the heart's right upper chamber directly to the left upper chamber through a hole in the wall between them. The hole is either a congenital heart defect called an atrial septal defect or a natural opening called the foramen ovale. When the foramen ovale doesn't close after birth, it's called a patent foramen ovale.

How blood flows after that depends on whether there are other heart structure problems. In some babies with tricuspid atresia, blood moves from the left lower heart chamber into the body's main artery, the aorta. Then it goes to the lungs through a temporary connection called the ductus arteriosus. This connection typically closes after birth.

Many babies born with tricuspid atresia also have a hole between the lower heart chambers. This hole is called a ventricular septal defect or VSD. If this occurs, some blood can flow through the hole directly to the main lung artery. The amount of blood going to the lungs depends on the size of the VSD and whether the pulmonary valve is narrowed. If the VSD is large, too much blood can move to the lungs. This can cause heart failure.

Risk factors

It's not entirely clear why congenital heart defects such as tricuspid atresia occur. But some risk factors have been identified. Many babies born with a genetic disorder called Down syndrome have tricuspid atresia.

Other things that might increase your baby's risk of tricuspid atresia include:

• Having German measles (rubella) or another viral illness during early pregnancy
• Family history of congenital heart disease
• Drinking alcohol during pregnancy
• Smoking before or during pregnancy
• Poorly controlled diabetes during pregnancy
• Use of certain medications during pregnancy, including some used to treat acne, bipolar disorder and seizures

Complications

Tricuspid atresia restricts blood flow from the heart to the lungs. The right lower heart chamber is small and underdeveloped. A life-threatening complication of tricuspid atresia is a lack of oxygen to the body's tissues. This condition is called hypoxemia.

Prompt treatment greatly improves the outcome for babies with tricuspid atresia. But complications may develop later in life. Complications of tricuspid atresia may include:

• Easy tiring during activity
• Irregular heart rhythms
• Kidney or liver disease
• Heart failure

Prevention

Because the exact cause of most congenital heart defects is unknown, it may not be possible to prevent tricuspid atresia.

If you have a family history of congenital heart defects or are at high risk of giving birth to a child with one, genetic screening may be recommended before or during pregnancy. Consider talking with a genetic counselor and a pediatric heart doctor about your specific risks.

Some ways you can help prevent your baby's overall risk of congenital heart defects are to:

• Get proper prenatal care. Regular checkups with a health care provider during pregnancy can help keep you and your baby healthy.
• Take a multivitamin with folic acid. Taking 400 micrograms of folic acid daily has been shown to reduce problems with the brain and spinal cord at birth. It may help reduce the risk of congenital heart defects as well.
• Get a rubella (German measles) vaccine. A rubella infection during pregnancy may affect a baby's heart development. Get vaccinated before trying to get pregnant.
• Check with your provider before taking any medications. Some medications taken during pregnancy can cause health problems in the baby. Tell your provider about all the medications you take, including those bought without a prescription.
• Don't smoke tobacco or drink alcohol during pregnancy. Either 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.
• Manage other health conditions. If you have other health conditions, talk to your health care provider about the best way to treat and manage them.

Diagnosis

Tricuspid atresia may be diagnosed during a routine pregnancy ultrasound before a baby is born. It's important to get proper prenatal care during pregnancy.

After birth, a health care provider immediately examines the baby and listens to the baby's heart and lungs. The care provider might suspect a heart problem such as tricuspid atresia if a baby has blue or gray skin, trouble breathing, or an irregular heart sound called a heart murmur. Changes in blood flow to and from the heart can cause a heart murmur.

Tests

Tests to diagnose tricuspid atresia may include:

• Echocardiogram. Sound waves create moving images of blood flow through the heart and heart valves. In a baby with tricuspid atresia, the echocardiogram shows a missing tricuspid valve and irregular blood flow. The test may reveal other heart problems as well.
• Electrocardiogram. Also called an ECG or EKG, this quick and painless test records the electrical activity of the heart. It can show how fast or how slow the heart is beating. An ECG can detect irregular heart rhythms.
• Pulse oximetry. A small sensor attached to a hand or foot measures the amount of oxygen in the blood. Pulse oximetry is simple and painless.
• Chest X-ray. A chest X-ray shows the condition of the heart and lungs. It can help determine the size of the heart and its chambers. A chest X-ray can show fluid buildup in the lungs.
• Cardiac catheterization. A thin, flexible tube called a catheter is inserted into a blood vessel, usually in the groin area, and guided into the heart. Dye flows through the catheter into the heart chambers. The dye helps the chambers be seen on X-ray images. The catheter can also be used to measure pressures in the heart chambers. Cardiac catheterization is rarely used to diagnose tricuspid atresia, but it might be done to examine the heart before tricuspid atresia surgery.

Treatment

There's no way to replace a tricuspid valve in tricuspid atresia. If your child has tricuspid atresia, several surgeries are often done to improve blood flow through the heart and to the lungs. Medications are used to manage symptoms.

If your baby has tricuspid atresia, consider getting care at a medical center with surgeons and other health care providers who have experience with complex congenital heart disease.

Medications

Medications for tricuspid atresia may be given to:

• Strengthen the heart muscle
• Lower blood pressure
• Remove excess fluid from the body

Supplemental oxygen might be given to help the baby breathe better.

Before heart surgery, a baby with tricuspid atresia may be given the hormone prostaglandin to help widen and keep open the ductus arteriosus.

Surgeries or other procedures

A baby with tricuspid atresia often needs several heart surgeries or procedures. Some of them are temporary fixes to quickly improve blood flow before a more permanent procedure can be done.

Surgeries or procedures for tricuspid atresia include open-heart surgery and minimally invasive heart surgery. The type of heart surgery depends on the specific congenital heart defect.

• Shunting. This procedure creates a new pathway (shunt) for blood to flow. In tricuspid atresia, the shunt redirects blood from a main blood vessel leading out of the heart to the lungs. Shunting increases the amount of blood flow to the lungs. It helps improves oxygen levels.

  Surgeons generally place a shunt during the first two weeks of life. However, babies usually outgrow the shunt. They may need another surgery to replace it.

• Glenn procedure. In the Glenn procedure, the surgeon removes the first shunt. Then one of the large veins that typically returns blood to the heart is connected directly to the lung artery instead. The Glenn procedure reduces the strain on the heart's lower left chamber, decreasing the risk of damage to it. The procedure can be done when the pressures in the baby's lung have lowered, which happens as the baby gets older.

  The Glenn procedure sets the stage for a more permanent corrective surgery called the Fontan procedure.

• Fontan procedure. This type of heart surgery is typically done when a child is 2 to 5 years old. It creates a pathway so that most, if not all, of the blood that would have gone to the right heart can instead flow directly into the pulmonary artery.

  The short- and intermediate-term outlook for babies who have a Fontan procedure is generally promising. But regular checkups are necessary to monitor for complications, including heart failure.

• Pulmonary artery band placement. This procedure may be done if a baby with tricuspid atresia has a ventricular septal defect. The surgeon places a band around the main lung artery to reduce the amount of blood moving from the heart into the lungs.
• Atrial septostomy. Rarely, a balloon is used to create or enlarge the opening between the heart's upper chambers. This allows more blood to flow from the right upper chamber to the left upper chamber.

After treatment, babies with tricuspid atresia need regular health checkups, ideally with a children's doctor trained in congenital heart conditions. This care provider is called a pediatric congenital cardiologist. Many children with congenital heart defects, such as tricuspid atresia, grow up to lead full lives.

Adults treated for tricuspid atresia also need lifelong checkups, preferably with a doctor trained in adult congenital heart conditions. This care provider is called an adult congenital cardiologist.

Self care

If your child has tricuspid atresia, lifestyle changes may be recommended to keep the heart healthy and prevent complications.

Try these tips to help a baby or child with tricuspid atresia:

• Adjust feedings. A baby with tricuspid atresia might not be getting enough calories because of tiring during feeding and other factors. Try giving the baby frequent, small feedings.

  Breast milk is an excellent source of nutrition. But a special high-calorie formula may be needed if your baby isn't getting enough nutrition because of tiring during feeding. Some babies might need to be fed through a feeding tube.

• Ask about preventive antibiotics. Sometimes, a congenital heart defect can increase the risk of infection in the lining of the heart or heart valves. This condition is called infective endocarditis. Antibiotics may be recommended before dental and other procedures to prevent this infection. Ask your child's heart doctor if preventive antibiotics are necessary for your child.

  Practicing good oral hygiene — brushing and flossing teeth, getting regular dental checkups — also is important for good overall health.

• Stay active. Physical activity is important for heart health. Encourage as much play and activity as you or your child can tolerate or as your provider recommends. Allow lots of time for rest.
• Discuss sports restrictions. Some kids and adults with congenital heart defects may need to limit certain types of exercise or sports activities. A care provider can tell you if there are sports or activities that you or your child should limit or avoid.
• Get recommended vaccines. Standard immunizations are encouraged for children with congenital heart defects. So are vaccines for flu, COVID-19, pneumonia and respiratory syncytial virus infections.
• Keep follow-up appointments with the care provider. Your child will need at least yearly appointments with a pediatric congenital cardiologist.

Pregnancy and tricuspid atresia

If you have tricuspid atresia and are pregnant or hoping to be, consider talking to an adult congenital heart disease specialist and a maternal-fetal medicine specialist. During pregnancy, it's important to receive care from a provider who specializes in pregnancies in those with congenital heart disease.

Pregnancy is considered high risk for those who have had a Fontan procedure. If you have a history of heart failure, you may be discouraged from becoming pregnant.

Coping and support

Try these tips to help support your child with tricuspid atresia:

• Stick to a regular routine. Maintaining a regular daily routine can help both you and your child. Even if your baby is in the hospital, try to spend as much time together as you can. Include other children you have, if possible. Family bonding is important for a baby's social and emotional development.
• Record your child's health history. Write down your baby's diagnosis, medications, surgery and other procedures and their dates, the name and phone number of your child's health care providers, and other important information about your baby's care. Keep copies of surgery reports.
• Communicate with the care providers. You may have many questions as your child grows and develops. Talk about your concerns with your child's health care providers.
• Join a support group. You may find that talking with other people who've experienced the same situation brings you comfort and encouragement. Ask your health care provider if there are any support groups in your area.
• Manage stress and anxiety. Living with a congenital heart defect can make some children feel stressed or anxious. Talking to a therapist or counselor may help you and your child learn new ways to manage stress and anxiety. Your care provider can suggest therapists who may be helpful to you or your child.

Preparing for your appointment

If your child has a life-threatening congenital heart defect, it will likely be diagnosed soon after birth. Sometimes it diagnosed before birth during a pregnancy ultrasound.

If you think your child has a congenital heart defect that wasn't recognized at birth, talk to your child's health care provider. Be prepared to describe your child's symptoms and provide a family medical history. Some congenital heart defects may be passed down through families. These are known as inherited conditions.

If you or your child has tricuspid atresia, you will likely be referred to a heart doctor specializing in pediatric congenital heart defects or adult congenital heart disease.

What you can do

Before the appointment, make a list of important information and bring it with you to the appointment. Include details about:

• Symptoms you've noticed in yourself or your child, including any that may seem unrelated to a congenital heart defect
• Important personal information, including family history of congenital heart disease, lifestyle choices during pregnancy such as smoking or drinking alcohol, or illnesses during pregnancy
• Questions to ask the health care provider
• All medications, including those bought without a prescription. Include dosages.

Bring a family member or friend to the appointment, if possible. Someone who goes with you may help you better remember the information your provider gives you.

Preparing a list of questions can help you and your health care provider make the most of your time together. For tricuspid atresia, you might want to ask questions such as:

• What tests are needed?
• What treatments are available, and which do you recommend?
• Will this require more than one surgery?
• How can I make myself or my child more comfortable?
• Are there restrictions to follow?
• If I get pregnant again, is there a way to prevent tricuspid atresia from happening?
• Are there brochures or other printed material that I can have? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your health care provider is likely to ask you many questions. Being ready to answer them may save time to go over anything you want to spend more time on. Your provider may ask:

• Can you describe the symptoms?
• When do these symptoms occur?
• Do the symptoms come and go, or are they always present?
• Do the symptoms seem to be getting worse?
• Does anything make the symptoms better?
• Do you have a family history of congenital heart defects?
• Has your child been growing and meeting developmental milestones as expected? Ask your child's provider if you're not sure.