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 â known as a ventricular septal defect â 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.
Source: http://www.mayoclinic.com
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:
Source: http://www.mayoclinic.com
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.
Source: http://www.mayoclinic.com
When your baby was born, your baby's height, weight and head circumference were recorded, and these measurements are taken at all regularly scheduled appointments with your child's doctor. He or she will repeat these measurements during a special appointment and determine if there has been any delay in growth.
Your baby's doctor will also 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 whole 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.
In order 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 your or your baby's heart. A transducer that emits high-pitched sound waves is moved across the skin over your or your baby's 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.
Source: http://www.mayoclinic.com
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 â 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.
Source: http://www.mayoclinic.com
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:
Source: http://www.mayoclinic.com
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:
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 any 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 it will 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 may 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.
Source: http://www.mayoclinic.com
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:
Source: http://www.mayoclinic.com
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