Truncus Arteriosus: Causes, Symptoms, and Treatment
Medically reviewed by Achuta Uppu, MD, Internal Medicine. Last reviewed: October 23, 2026.
What kind of doctor treats Truncus Arteriosus?
A pediatric cardiologist, a heart doctor for children, usually diagnoses and follows truncus arteriosus. A surgeon repairs the heart with open-heart surgery, usually in the first month of life. A direct primary care or concierge doctor can be a first stop for an evaluation and can refer you to a specialist when needed.
What is truncus arteriosus?
Truncus arteriosus is a rare heart problem that is present at birth. Normally, the pulmonary artery carries blood to the lungs. The aorta carries blood to the rest of the body. With truncus arteriosus, only one large blood vessel leaves the heart instead of two. Most often there is also a large hole between the two lower pumping chambers, called the ventricles. Because of this, blood with oxygen and blood without oxygen mix.
There are four types of truncus arteriosus. It affects boys and girls equally and happens in about 1 in 15,000 births in the United States.
Symptoms
Babies can show symptoms at birth. Symptoms can include:
- A bluish color to the skin, lips, or nail beds, called cyanosis, from a low oxygen level in the blood.
- Fast breathing, called tachypnea, or shortness of breath.
- Poor feeding, such as sweating with feeds, needing to stop and take breaks, and trouble gaining weight.
- Slow growth.
- Being very tired or sleepy.
- Widening of the fingertips, called clubbing.
- A heart murmur, which is a sound a doctor hears when listening to the heart with a stethoscope.
Without surgery, too much blood flows to the lungs, and fluid can build up in and around them. This makes it hard to breathe. A child without repair surgery may get lung infections, grow poorly, and develop heart failure.
Causes and who gets it
Doctors have not found one single cause of truncus arteriosus. Genes and the environment may both play a part. The heart problem forms while the baby is growing before birth. About 35 percent of children with truncus arteriosus also have 22q11.2 deletion syndrome.
Some possible risk factors for heart defects that are present at birth include other family members who were born with heart defects. A mother's health in pregnancy, such as diabetes, viral illnesses, or alcohol use, is another possible risk factor.
How doctors diagnose it
Doctors can often see truncus arteriosus before birth on a prenatal ultrasound, which is a scan done during pregnancy. After birth, fast breathing, a blue color, or a heart murmur often lead to a visit with a pediatric cardiologist. An echocardiogram, which is an ultrasound of the heart, confirms the diagnosis.
Other tests can include a chest x-ray and an MRI or CT scan. Doctors may also do cardiac catheterization, a procedure that measures pressures and oxygen levels in the heart and nearby blood vessels.
Treatment
Surgery is needed to treat truncus arteriosus. The standard treatment is open-heart surgery in the newborn period. The surgery creates two separate arteries. The surgeon closes the hole between the ventricles. The surgeon also builds a new pulmonary artery from other tissue or a man-made tube. Complete repair most often gives good results.
A child may need another procedure while growing up. The rebuilt pulmonary artery made from other tissue will not grow with the child. Children need regular follow-up visits with a cardiologist, a heart doctor. Without surgery, the outlook is very poor.
When to see a doctor
Contact your child's doctor if your baby or child seems very sleepy or gets tired easily. Also call if your child is mildly short of breath or does not eat well. Call if your child does not seem to grow or develop normally.
Go to the emergency room if your child's skin, lips, or nail beds look blue, or if your child seems very short of breath.
How a direct primary care or concierge doctor fits in
A direct primary care doctor charges a flat monthly fee instead of billing insurance, while a concierge doctor usually charges more and often works alongside insurance. A direct primary care doctor can track a child's growth and feeding. This doctor can also help coordinate visits with the heart team.
Common questions
Can truncus arteriosus be prevented?
No, there is no known way to prevent truncus arteriosus. Early treatment can often prevent serious complications. Women who plan to become pregnant should be immunized against rubella if they are not already immune. Pregnant women should also avoid alcohol and illegal drugs.
Does truncus arteriosus need surgery?
Yes, surgery is needed to treat truncus arteriosus. The surgery creates two separate arteries and closes the hole between the ventricles.
Can truncus arteriosus be found before birth?
Yes, it can often be found before birth on a prenatal ultrasound. If not, fast breathing, a blue color, or a heart murmur often lead to tests after birth.
Is truncus arteriosus linked to other conditions?
Yes, about 35 percent of children with truncus arteriosus also have 22q11.2 deletion syndrome. That syndrome can include heart defects, trouble fighting infections, and a low calcium level.
Will my child need more surgery later?
Possibly, because another procedure may be needed as the child grows. The rebuilt pulmonary artery made from other tissue will not grow with the child.
Sources
Medical Disclaimer
This content is for general educational and informational purposes only and is not medical advice. It is not a substitute for professional medical advice, diagnosis, or treatment, and reading it does not create a doctor-patient relationship. Always seek the advice of your physician or another qualified health provider with any questions about a medical condition, and never disregard or delay seeking professional advice because of something you read here. If you think you may have a medical emergency, call 911 (or your local emergency number) immediately.
