Diagnosis

Your baby's doctor will listen to your or your baby's lungs to assess his or her breathing and the possibility of fluid in the lungs. The doctor will listen to your or your baby's heart to determine if there are irregular heartbeats (arrhythmia) or an abnormal sound caused by turbulent blood flow (heart murmur).

For babies with truncus arteriosus, much of their medical care is provided by a pediatric cardiologist along with a pediatric cardiac surgeon and often a team of specialized staff. For adults with truncus arteriosus, much of their medical care is provided by an adult congenital cardiologist along with a congenital cardiac surgeon and often a whole team of specialized staff.

For the pediatric or adult congenital cardiologist to check the condition of your or your baby's heart and make a diagnosis, he or she will order one or more tests:

  • Echocardiogram. An echocardiogram shows the structure and function of the heart. A transducer that emits sound waves is moved across the skin over the heart. The sound waves echo off internal structures, producing images on a monitor.

    In a baby with truncus arteriosus, the echocardiogram reveals the single large vessel leading from the heart, a hole in the wall between the left and right ventricles, and abnormalities in the valve between the large vessel and the ventricles. The test can also show how much blood is flowing to your baby's lungs, and whether there's a risk of high blood pressure in the lungs.

  • X-ray. An X-ray uses radiation to produce still images of internal organs and structures. A chest X-ray can show the size of the heart, abnormalities in the lungs and excess fluid in the lungs.

Treatment

Infants with truncus arteriosus must have surgery. Multiple procedures or surgeries might be necessary, especially as your child grows. Medications might be given before surgery to help improve heart health.

Children and adults with surgically repaired truncus arteriosus must have regular follow-up with their cardiology team.

Medications

Medications that might be prescribed before surgery include:

  • Diuretics. Often called water pills, diuretics increase the frequency and volume of urination, preventing fluid from collecting in the body, which is a common effect of heart failure.
  • Inotropic agents. This type of medication strengthens the heart's contractions.

Surgical procedures

Most infants with truncus arteriosus have surgery within the first few weeks after birth. The procedure will depend on your baby's condition. Most commonly your baby's surgeon will:

  • Close the hole between the two ventricles with a patch
  • Separate the upper portion of the pulmonary artery from the single large vessel
  • Implant a tube and valve to connect the right ventricle with the upper portion of the pulmonary artery — creating a new, complete pulmonary artery
  • Reconstruct the single large vessel and aorta to create a new, complete aorta

After corrective surgery, your child will need lifelong follow-up care with a cardiologist. The cardiologist might recommend that your child limit physical activity, particularly intense competitive sports.

Your child will need to take antibiotics before dental procedures and other surgical procedures to prevent infections.

Because the artificial conduit does not grow with your child, follow-up surgeries to replace the conduit valve are necessary as he or she ages.

Cardiac catheterization

Minimally invasive procedures use a cardiac catheter to avoid the need for traditional heart surgery as your child grows or previously placed artificial valves deteriorate. The catheter is inserted into a blood vessel in the leg that is then threaded up to the heart to replace the conduit.

In addition, cardiac catheterization with an inflatable balloon tip can be used to open up an obstructed or narrowed artery, which might delay the need for follow-up surgery.

Pregnancy

Women who've had surgery to repair truncus arteriosus in infancy need to be evaluated by a cardiologist with expertise in adult congenital heart defects and an obstetrician specializing in high-risk pregnancies before attempting to become pregnant.

Depending on the level of lung damage that occurred before surgery, pregnancy might or might not be recommended. In addition, some drugs taken for heart problems can be harmful to an unborn baby.

Clinical trials

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

Coping and support

Caring for a baby with a serious heart problem, such as truncus arteriosus, can be challenging. Here are some strategies that may help make it easier:

  • Seek support. Ask for help from family members and friends. Contact nonprofit organizations, such as the American Heart Association, Adult Congenital Heart Association or Mended Hearts for information about support groups in your area.
  • Record your baby's health history. Write down your baby's diagnosis, medications, surgery and other procedures, the dates they were performed, your pediatric cardiologist's name and phone number, and other important information about your baby's care.

    It's also helpful to include a copy of the operative report from your child's surgeon in your records. This information will help you recall the care your child has received and be useful to doctors unfamiliar with your child who need to review his or her health history. It will also be helpful when your child moves from pediatric to adult health care.

  • Talk about your concerns. You might worry about the risks of vigorous activity, even after your child has had corrective surgery. Talk with the cardiologist about which activities are safe for your child.

    If some activities are off-limits, encourage your child in other pursuits rather than focusing on what he or she can't do. If other issues about your child's health concern you, discuss them with your child's primary care doctor or pediatric cardiologist.

Preparing for your appointment

What you can do

If possible, compile a thorough medical history from both sides of your baby's family. Some heart problems are inherited, so it's helpful if you can let your doctor know if anyone in your child's family has ever had early heart problems.

It's also helpful to prepare a list of questions so that you can make the most of your time with your baby's doctor. Here's a sampling of questions you might want to ask:

  • What kinds of tests will my child undergo?
  • What are the options for treatment? What are the possible complications of treatment?
  • What is the long-term outlook for my child?
  • What impact would a heart defect or the subsequent treatment have on another condition my baby has?
  • 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 doctor will likely ask you the following questions:

  • Does your baby ever appear blue?
  • How long are feeding times, or how much does your baby drink?
  • How often and how long does your baby sleep?
  • How does your baby respond to touch?
  • Have you noticed changes in any of these behaviors?
Dec. 08, 2020
  1. Hay WW, et al., eds. Cardiovascular disease. In: Current Diagnosis & Treatment: Pediatrics. 23rd ed. New York, N.Y.: McGraw-Hill Education; 2016. http://accessmedicine.mhmedical.com. Accessed Aug. 26, 2017.
  2. Facts about truncus arteriosus. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/heartdefects/truncusarteriosus.html. Accessed Aug. 26, 2017.
  3. Bonow RO, et al., eds. Diseases of the heart, pericardium, and pulmonary vasculature bed. In: Braunwald's Heart Disease: A Textbook of Cardiovascular Medicine. 10th ed. Philadelphia, Pa.: Saunders Elsevier; 2015. https://www.clinicalkey.com. Accessed Aug. 26, 2017.
  4. Soriano B, et al. Truncus arteriosus. https://www.uptodate.com/contents/search. Accessed Aug. 27, 2017.
  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. http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/AboutCongenitalHeartDefects/Truncus-Arteriosus_UCM_307040_Article.jsp#.WaI5mVGQxEY. Accessed Aug. 26, 2017.
  8. Guidance for preventing birth defects. Centers for Disease Control and Prevention. https://www.cdc.gov/ncbddd/birthdefects/prevention.html. Accessed Aug. 27, 2017.