Diagnosis

Truncus arteriosus is usually diagnosed soon after a child is born. The baby may look blue or gray and have trouble breathing.

When a baby is born, a healthcare professional always listens to the baby's lungs to check breathing. If a baby has truncus arteriosus, the healthcare professional may hear fluid in the lungs during this exam. The healthcare professional also listens to the baby's heart to check for irregular heartbeats or a whooshing sound, called a murmur.

Tests

Tests to diagnose truncus arteriosus include:

  • Pulse oximetry. A sensor placed on the fingertip records the amount of oxygen in the blood. Too little oxygen may be a sign of a heart or lung problem.
  • Chest X-ray. This test shows the condition of the heart and lungs. It can show the size of the heart. A chest X-ray also can tell if the lungs have extra fluid.
  • Echocardiogram. An echocardiogram uses sound waves to create pictures of the beating heart. This is the main test to diagnose truncus arteriosus. It shows blood flow through the heart and heart valves. In a baby with truncus arteriosus, the test shows one single large vessel leading from the heart. There's typically a hole in the wall between the lower heart chambers.

Treatment

Infants with truncus arteriosus need surgery to improve blood flow and oxygen levels. Many procedures or surgeries might be needed, especially as a child grows. Medicines might be given before surgery to help improve heart health.

Children and adults with surgically repaired truncus arteriosus need regular health checkups for life.

Medications

Some of the medicines that might be given before truncus arteriosus surgery include:

  • Water pills. Also called diuretics, these medicines help the kidneys remove extra fluid from the body. Fluid buildup is a common symptom of heart failure.
  • Positive inotropes. These medicines help the heart pump stronger, which improves blood flow. They also help control blood pressure. Positive inotropes may be given by IV to treat severe heart failure symptoms.

Surgery or other procedures

Most infants with truncus arteriosus have surgery within the first few weeks after birth. The specific type of surgery depends on the baby's condition. Usually, the baby's surgeon:

  • Rebuilds the single large vessel and aorta to create a new, complete aorta.
  • Separates the upper part of the pulmonary artery from the single large vessel.
  • Uses a patch to close the hole between the two lower heart chambers.
  • Places a tube and valve to connect the right lower heart chamber with the upper pulmonary artery. This creates a new, complete pulmonary artery.

The tube used to create the new pulmonary artery doesn't grow with a child. Follow-up surgeries are needed to replace the tube as the child grows.

Future surgeries may be done with a flexible tube called a catheter. This avoids the need for open-heart surgery. The healthcare professional inserts the catheter into a blood vessel in the groin and guides it to the heart. A new valve can be delivered through the catheter to the proper area.

Sometimes a small balloon at the tip of the catheter is inflated at the site of a blockage, making a blocked artery wider. This procedure is called balloon angioplasty.

After surgery for truncus arteriosus, a person needs lifelong follow-up care with a heart doctor specializing in congenital disease. This type of healthcare professional is called a congenital cardiologist.

Clinical trials

Explore Mayo Clinic studies testing new treatments, interventions and tests as a means to prevent, detect, treat or manage this condition.

Lifestyle and home remedies

If you or your child had truncus arteriosus, your healthcare professional may recommend taking a few steps to protect the heart.

  • Exercise limits. Some people with heart conditions need to limit exercise and sports activities, especially competitive sports. Ask your healthcare professional which sports and types of exercise are safe for you or your child. People with Eisenmenger syndrome should avoid strenuous physical activity.
  • Antibiotics. Sometimes, heart conditions can increase the risk of infection in the lining of the heart or heart valves. This infection is called infective endocarditis. Antibiotics may be recommended to prevent infections before dental procedures and other surgeries. It's also important to have good oral hygiene and regular dental checkups
  • Pregnancy. If you've had truncus arteriosus repair surgery and want to become pregnant, talk to your healthcare professional first. Ask about the possible risks and complications. It's best to be checked by healthcare professionals with training in adult congenital heart disease and high-risk pregnancies. Together, you and your care team can discuss and plan for any special care needed during pregnancy.

    Depending on the level of lung damage that occurred before truncus arteriosus surgery, pregnancy might or might not be recommended. Pregnancy is considered very high risk for those with Eisenmenger syndrome and is not recommended.

Coping and support

Caring for a baby with a serious heart problem, such as truncus arteriosus, can be challenging. Here are some strategies that might be helpful.

  • Seek support. Ask for help from family members and friends. Connecting with others in support groups may help manage stress. Contact nonprofit organizations, such as the American Heart Association.
  • Keep track of your baby's health history. Include details about any diagnosis, medicines, surgeries and other procedures. Note the dates for surgeries and procedures. Include dosages for medicines. Write down any healthcare professionals' names and phone numbers.

    If possible, get a copy of medical reports. This information helps you remember who provided care. It's also helpful to healthcare professionals who are unfamiliar with your child's health history.

  • Talk about your concerns. You might worry about the risks of strenuous activity, especially after heart repair surgery. Ask your child's heart doctor, called a pediatric cardiologist, which activities are safe for your child.

Preparing for your appointment

What you can do

If possible, ask your family members about their medical history. Heart problems at birth can be passed down through families. So it's helpful to know if anyone in your child's family has a history of early heart problems.

Also make a list of questions to ask your baby's healthcare professional. Preparing this list can help you and your healthcare team make the most of your time together. Here are some questions you might want to ask:

  • What tests are needed?
  • What are the treatment options?
  • What are the possible side effects or complications of treatment?
  • How do we check for complications?
  • What is the long-term outlook for my child?
  • My baby has other health conditions. How do we best manage them together?
  • If I have another baby in the future, what are the chances of this happening again?
  • Are there any 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 child's healthcare professional typically asks the following questions:

  • Does your baby ever look blue or gray?
  • How long are feeding times?
  • How much does your baby drink?
  • How often and how long does your baby sleep?
  • How does your baby respond to touch?
  • Does your baby ever breathe fast?
Nov. 21, 2024

Living with truncus arteriosus?

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  1. Bunik M, et al., eds. Cardiovascular diseases. In: Current Diagnosis & Treatment: Pediatrics. 26th ed. McGraw Hill; 2022. https://accessmedicine.mhmedical.com. Accessed Sept. 15, 2022.
  2. About truncus arteriosus. Centers for Disease Control and Prevention. https://www.cdc.gov/heart-defects/about/truncus-arteriosus.html? Accessed July 6, 2024.
  3. Libby P, et al., eds. Congenital heart disease in the adolescent and adult. In: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 12th ed. Elsevier; 2022. https://www.clinicalkey.com. Accessed Sept. 15, 2022.
  4. Soriano B, et al. Truncus arteriosus. https://www.uptodate.com/contents/search. Accessed Sept. 12, 2022.
  5. Zhang S, et al. Parental alcohol consumption and the risk of congenital heart diseases in offspring: An updated systematic review and meta-analysis. European Journal of Preventive Cardiology. 2019; doi:10.1177/2047487319874530.
  6. Kalisch-Smith JI, et al. Environmental risk factors for congenital heart disease. Cold Spring Harbor Perspectives in Biology. 2020; doi:10.1101/cshperspect.a037234.
  7. Truncus arteriosus. American Heart Association. https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/truncus-arteriosus Accessed July 21, 2024.
  8. Preventing birth defects. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/prevention.html. Accessed July 6, 2024.
  9. Stout KK, et al. 2018 AHA/ACC guideline for the management of adults with congenital heart disease: A report of the American College of Cardiology/American Heart Association Task Force on Clinical Practice Guidelines. Circulation. 2019; doi:10.1161/CIR.0000000000000603.
  10. Pierpont ME, et al. Genetic basis for congenital heart disease: Revisited: A scientific statement from the American Heart Association. Circulation. 2018; doi:10.1161/CIR.0000000000000606.
  11. Phillips SD (expert opinion). Mayo Clinic. Oct. 19, 2022.

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