Tricuspid atresia

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 isn’t formed. Instead, there’s solid tissue between the chambers.

If your baby is born with tricuspid atresia, blood cannot flow through the heart and into the lungs to pick up oxygen as it normally would. The result is 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.

Surgery and medications are treatment options for tricuspid atresia. With advances over the last several decades, the outlook for babies with tricuspid atresia is better than in the past.

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 tricuspid atresia, in most cases the cause is unknown.

The normal-functioning heart
Your heart is divided into four chambers, two on the right and two on the left. In performing its basic job — pumping blood throughout the body — your heart uses its left and right sides for different tasks. The right side moves blood to the lungs. 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.

Holes in the walls
In tricuspid atresia, the right side of the heart cannot properly pump blood to the lungs because the tricuspid valve, located between the upper right chamber (atrium) and the lower right chamber (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.

Blood instead flows from the upper right chamber to the upper left chamber 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 usually closes soon after birth. If a baby with tricuspid atresia does not 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. The blood reaches the lungs from the left side of the heart through another natural opening between the right and left sides (ductus arteriosus) that usually closes soon after birth. When necessary, this passageway is kept open using medication in babies with tricuspid atresia. (When the foramen ovale and the ductus arteriosus are open, they are referred to as being “patent.”)

Some babies with tricuspid atresia have another heart defect — a hole between the lower two chambers (ventricular septal defect). In these cases, blood can flow through the hole and into the right ventricle, which pumps it to the lungs.

Signs and symptoms of tricuspid atresia include:

  • Blue tinge to the skin and lips (cyanosis)
  • Difficulty breathing (dyspnea)
  • Tiring easily, especially during feedings
  • Slow growth

Most babies who have tricuspid atresia begin to show these signs and symptoms within the first two months of life.

Some babies with tricuspid atresia may also develop signs and symptoms of congestive heart failure, including:

  • Fatigue and weakness
  • Persistent cough or wheezing with white or pink blood-tinged phlegm
  • Swelling (edema) in the legs, ankles and feet
  • Swelling of the abdomen (ascites)
  • Sudden weight gain from fluid retention
  • Decreased alertness
  • Irregular or rapid heartbeat

When to see a doctor
Tell your doctor promptly if you notice any of the above signs or symptoms in your child.

The exact cause of tricuspid atresia is unknown, but several factors may increase the risk of a baby being born with this condition:

  • A mother who had German measles (rubella) or another viral illness during early pregnancy
  • A parent who has a congenital heart defect
  • Excessive alcohol consumption during pregnancy
  • A mother who has diabetes
  • Use of some types of medications during pregnancy, such as the acne drug isotretinoin (Accutane) and lithium (Eskalith), which is used to treat bipolar disorder

Babies who have Down syndrome, a genetic condition that results from an extra 21st chromosome, also often have a congenital heart defect.

Prompt treatment helps avoid potentially fatal complications of tricuspid atresia, including:

  • Lack of oxygen to tissues (hypoxemia). Tricuspid atresia may result in your baby’s tissues getting too little oxygen, a condition that can be life-threatening.
  • Increased red blood cell count (polycythemia). If your baby has tricuspid atresia, his or her body may begin to produce a greater than normal number of red blood cells. This can interfere with normal blood flow, which may lead to blood clots, a heart attack or a stroke.

Complications later in life
Although treatment greatly improves the outcome for babies with tricuspid atresia, they may still have the following complications later in life, even after surgery:

  • 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)
  • Abnormal loss of protein from the digestive tract (protein-losing enteropathy)
  • Infection of the heart valves (endocarditis)

For this reason, your child will need lifelong care from a heart specialist (cardiologist) to monitor for complications and treat them as necessary.

A congenital heart defect such as tricuspid atresia is often identified within the first two months of birth — more than half of babies with tricuspid atresia show signs on the first day of life. 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 of ground to cover, it’s a good idea to be 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 key personal information, including any family history of congenital heart disease or any illnesses the mother may have had during pregnancy.
  • Take a family member or friend along, if possible. Sometimes it can be difficult to soak up all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Write down questions to ask your doctor.

Your time with your child’s cardiologist is limited, so preparing a list of questions will help you make the most of your time together. List your questions from most important to least important in case time runs out. For a congenital heart defect, some basic questions to ask your child’s cardiologist include:

  • What is likely causing my child’s symptoms?
  • Are there other possible causes for the symptoms?
  • What kinds of tests will my child need?
  • What are the long-term effects of a congenital heart defect?
  • What is the best course of action for my child?
  • What are the alternatives to the primary approach that you’re suggesting?
  • How can I make my child more comfortable?
  • Are there any restrictions or special instructions that I need to follow for my child?
  • Should I see other specialists? What will that cost, and will my insurance cover seeing a specialist? (You may need to ask your insurance provider directly about cost and coverage.)
  • Will my child need to take medications? If so, are there generic alternatives to the medicines you’re prescribing?
  • Are there any brochures or other printed material that I can take home with me? What Web sites do you recommend visiting?

In addition to the questions that you’ve prepared to ask your doctor, don’t hesitate to ask questions during your appointment at any time that you don’t understand something.

Tests and diagnosis

Before birth
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 identify the condition on a routine ultrasound exam during pregnancy.

After birth
After your baby is born, his or her doctor may suspect a heart defect, such as tricuspid atresia, if your baby has a blue cast to his or her skin or is having trouble breathing. Your baby’s doctor may also suspect a heart defect if he or she hears a heart murmur — an abnormal whooshing sound caused by turbulent blood flow.

Doctors typically use an echocardiogram to diagnose tricuspid atresia. This test uses high-pitched 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. In addition, an echocardiogram can identify associated heart defects, such as an atrial septal defect or a ventricular septal defect.

Treatments and drugs

Creating a tricuspid valve for a heart that doesn’t have one isn’t possible at this time. So instead of correcting the heart’s anatomy, treatment for tricuspid atresia involves surgical intervention 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.

Corrective surgery
A surgery called the Fontan procedure is the best option for treatment of tricuspid atresia. During a Fontan surgery, the surgeon creates a path for the oxygen-poor blood returning to the heart to flow directly into the pulmonary arteries, which then pump the blood into the lungs. During this surgery, the surgeon will also close any holes between the chambers (septal defects) your baby’s heart may have.

However, most children with tricuspid atresia don’t undergo the Fontan procedure until they are between 2 and 4 years old.

Some children with tricuspid atresia aren’t good candidates for the Fontan procedure. If that is the case, your child’s doctors will discuss other options, including the possibility of a heart transplant.

Before corrective surgery
In the meantime, other measures — including medications, procedures and surgeries — are often necessary to stabilize your child’s medical condition and ensure proper growth.

Prostaglandin drug. Before surgery, your child’s cardiologist may recommend that your child take the medication prostaglandin to help widen (dilate) the blood vessels and keep the ductus arteriosus and the foramen ovale open.

Preventive antibiotics. The cardiologist also 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.

Preliminary procedures. The so-called rescue surgeries your baby may need before the Fontan procedure depend on how much blood is reaching his or her lungs. 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. Surgeons typically implant a shunt in the first six to eight weeks of life. However, babies usually outgrow this shunt and may need another surgery to replace it.
  • Glenn procedure. When babies outgrow the first shunt, they often require a surgery that sets the stage for the Fontan procedure. Doctors usually perform the Glenn procedure when a child is about 6 months old. It connects one of the large veins that return blood to the heart (superior vena cava) to the pulmonary artery. 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.

Follow-up care
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 physical activity.

The short- and intermediate-term outlook for children who have a Fontan procedure is good with five- to 10-year survival rates of 75 to 80 percent. The survival rate for those having surgery later in life is lower. 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.

Lifestyle and home remedies

If your baby’s 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 optimal nutrition. Your baby may have a difficult time taking in sufficient 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 — every two hours or so. 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 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.
  • Practice good oral hygiene. As your child gets older, practice flossing and brushing your child’s teeth. Although your child’s cardiologist may recommend preventive antibiotics before dental procedures, you can help prevent infections and the need for dental procedures by keeping your child’s teeth free from cavities.
  • 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. 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.
  • 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 (RSV) infections.

Caring for a baby with a serious heart problem, such as tricuspid atresia, can be challenging. 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.
  • 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 grow up to lead healthy, enjoyable lives.

Prevention

In most cases, 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, talk with a genetic counselor and a cardiologist experienced in congenital heart defects before future pregnancies.