Before you begin reading about truncus arteriosus, please read the explanation of how the normal heart works for a basic understanding of its structure and function.
When the fetus develops during pregnancy,
View Large Truncus Arteriosus Illustrationthe heart starts with a single large blood vessel coming from the heart called the truncus arteriosus. If fetal development progresses normally, the truncus divides into two arteries that carry blood out of the heart:
Sometimes the single large blood vessel fails to divide during fetal development and the baby is born with a heart that has one artery carrying blood out of it. This condition is known as truncus arteriosus or persistent truncus arteriosus (the trunk "persists").
The undivided trunk is attached to the heart as one artery straddling the bottom chambers and then divides into arteries taking blood to the lungs and body. The oxygen-poor blood from the right ventricle (bottom chamber) and the oxygen-rich blood from the left ventricle (bottom chamber) mix when ejected out into the trunk, and more blood than normal goes back to the lungs making it harder for the infant to breathe.
In almost all cases, children with the congenital heart defect truncus arteriosus also have a large hole between the bottom chambers of the heart. This is called a ventricular septal defect (VSD).
As a result of these abnormalities, the baby's blood isn't as oxygenated as it should be when it circulates through the body.
Signs and symptoms of truncus arteriosus include:
Truncus arteriosus is a life threatening congenital heart defect; most babies won't live for more than a few months without treatment.
Usually truncus arteriosus is diagnosed before the baby leaves the hospital if the doctor hears a murmur or sees a blue tint to the lips or skin. Or, a primary care pediatrician might detect the symptoms of truncus arteriosus during a checkup or a parent might notice symptoms and bring the baby to a doctor or hospital.
Diagnosis of truncus arteriosus may require some or all of these tests.
Sometimes truncus arteriosus is diagnosed on a fetal ultrasound and/or echocardiogram. The Fetal Heart Program at CHOP specializes in the detection, evaluation and management of congenital heart defects like truncus arteriosus prior to a baby's birth, and can prepare a plan for delivery and care immediately after birth.
A number of children with truncus arteriosus also have a genetic syndrome called 22q11 deletion syndrome (also known as DiGeorge, velocardialfacial or conotruncal anomaly face syndromes). Genetic testing (a blood test) for this syndrome may be part of our evaluation.
Open heart surgery is required to treat truncus arteriosus, usually before the baby is 2 months old. More than one operation may be required.
Cardiothoracic surgeons place a patch to close the hole (the ventricular septal defect). They separate the pulmonary arteries from the trunk, and then connect the pulmonary arteries to the right bottom chamber (ventricle) of the heart using different kinds of conduits (tubes). They repair the trunk so that it becomes a complete, functioning aorta. Other repairs may be needed, based on each child's unique needs.
A child who has had surgical repair of truncus arteriosus will require life-long care by a cardiologist.
Our pediatric cardiologists follow patients with truncus arteriosus until they are young adults, coordinating care with the primary care physician. Patients will need to carefully follow doctors' advice, including staying on any medications prescribed and, in some cases, limiting certain types of exercise.
Sometimes children with truncus arteriosus experience heart problems later in life, including irregular heartbeat (arrhythmia), a restricted conduit or pulmonary artery or a leaky aortic valve. Medicine, surgery and/or cardiac catheterization may be required.
We will help patients who have had truncus arteriosus treatment to transition care to an adult cardiologist.
The Philadelphia Adult Congenital Heart Center, a joint program of The Children's Hospital of Philadelphia and the University of Pennsylvania, meets the unique needs of adults who were born with heart defects, such as truncus arteriosus.
Because of enormous strides in medicine and technology, today most children with heart defects go on to lead productive lives as adults.
Contact the Cardiac Center at The Children's Hospital of Philadelphia for a second opinion or for more information.
Reviewed by: Elizabeth Goldmuntz, MD
Date: January 2009
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