Truncus arteriosus
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If you or your baby has truncus arteriosus, one large vessel leads out of the heart, instead of two separate vessels, and there’s a hole in the wall between the ventricles (ventricular septal defect). The oxygen-rich blood (red) and the oxygen-poor blood (blue) mix together, resulting in blood with an insufficient oxygen supply (purple) for the body.
Truncus arteriosus (TRUNG-kus ahr-teer-e-O-sus) is a rare heart defect that’s present at birth (congenital). If you or your baby has truncus arteriosus, it means that one large blood vessel leads out of the heart. Normally, there are two separate vessels coming out of the heart.
In addition, there is usually a hole — known as a ventricular septal defect — between the two lower chambers of the heart. As a result of truncus arteriosus, oxygen-poor blood that should go to the lungs and oxygen-rich blood that should go to the rest of the body are mixed together. This creates severe circulatory problems.
If left untreated, truncus arteriosus can be fatal. Surgery to repair truncus arteriosus is generally successful, especially if the repair occurs before your baby is one month old.
Signs and symptoms of truncus arteriosus often develop in the first few days of life. They include:
Seek medical treatment if you notice that your baby has any of the following problems:
Some signs of truncus arteriosus may indicate a problem that needs urgent care. If your baby experiences any of the following signs and symptoms and you can’t see your baby’s doctor immediately, seek emergency medical care:
Truncus arteriosus occurs during fetal growth when your baby’s heart is developing and is, therefore, present at birth (congenital). In most cases the cause is unknown.
An overview of the typical heart structure and function is helpful in understanding the defects of truncus arteriosus.
Your heart has four pumping chambers that circulate your blood. The “doors” of the chambers (valves) control the flow of blood, opening and closing to ensure that blood flows in a single direction.
The heart’s four chambers are:
The formation of the fetal heart is a complex process. At a certain point, all babies have a single large vessel (truncus arteriosus) exiting the heart. During normal development of the heart, however, this very large single vessel divides into two parts.
One part becomes the lower portion of the aorta, which is attached to the left ventricle. The other part becomes the lower portion of the pulmonary artery, which is attached to the right ventricle.
Also during this process, the ventricles develop into two chambers separated by a wall (septum).
In babies born with truncus arteriosus, the single large vessel never finished dividing into two separate vessels. And the wall separating the two ventricles never closed completely, resulting in a single blood vessel arising from the heart, and a large hole between the two chambers (ventricular septal defect).
In addition to the primary defects of truncus arteriosus, the valve controlling blood flow from the ventricles to the singe large vessel (truncal valve) is often defective, allowing blood to flow backward into the heart.
While the exact cause of congenital heart defects, such as truncus arteriosus, is unknown, several factors may increase the risk of a baby being born with a heart condition. These include:
The abnormal heart structures of truncus arteriosus result in severe problems with blood circulation.
Because the ventricles aren’t separated and all blood exits from a single vessel, the oxygen-rich blood and the oxygen-poor blood mix together — resulting in blood that doesn’t carry enough oxygen. The mixed blood flows from the single large vessel to the lungs, the arteries of the heart and the rest of the body.
If your baby has truncus arteriosus, the abnormal circulation of blood usually results in:
Even with successful surgical repair of the heart during infancy, other complications associated with truncus arteriosus may occur later in life:
Common signs and symptoms of these complications include shortness of breath when exercising, dizziness, fatigue, abdominal swelling, swelling in the legs and feet, and a sensation of rapid, fluttering heartbeats (palpitations).
In rare cases, a person with truncus arteriosus can survive infancy without surgical repair of the heart and live into adulthood. However, people with this condition will almost certainly develop heart failure and pulmonary hypertension (Eisenmenger syndrome).
This syndrome is caused by permanent lung damage from pulmonary hypertension that results in much of the blood flow bypassing the lungs entirely.
In most cases, congenital heart defects, such as truncus arteriosus, 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, you and your partner may consider talking with a genetic counselor and a cardiologist experienced in congenital heart defects before you make a decision about becoming pregnant.
If you’re thinking about becoming pregnant, there are several steps you can take to help ensure a healthy baby, including:
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Truncus arteriosus
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