Testing & diagnosis for truncus arteriosis in children

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Contact the Congenital Heart Valve Program

At Boston Children's Hospital, we understand that the first step in treating your child is forming an accurate, complete and timely diagnosis.

The exam

If your newborn baby was born with a bluish tint to her skin, or if your young child is experiencing certain symptoms, your pediatrician will immediately refer you to a pediatric cardiologist (and/or neonatologist), who will perform a physical exam. Your child’s doctor will listen to your baby’s heart and lungs, measure the oxygen level in her blood (non-invasively) and make other observations that help to determine the diagnosis.

Your child’s cardiologist will also investigate whether she has a heart murmur—a noise heard through the stethoscope that’s caused by the turbulence of blood flow. If there’s a murmur, the location in the chest where the murmur is best heard, as well as the sound and character of the murmur itself, gives the cardiologist a better sense of the kind of heart problem your baby may have.

Note: If your child’s truncus arteriosus was detected prenatally through ultrasound, upon birth she’ll be immediately admitted for stabilization and surgery.

The tests

Some or all of the following tests may be used to confirm a diagnosis of truncus arteriosus and its related defects, and to provide detailed information on the shape and condition of your baby’s heart:

  • echocardiogram (cardiac ultrasound): An echocardiogram is the chief diagnostic test for truncus arteriosus. It evaluates the structure and function of your child’s heart using electronically recorded sound waves that produce a moving picture of the heart and heart valves. This test can reveal the single vessel (truncus arteriosus), the ventricular septal defect (VSD) and any regurgitation from the truncal valve. No discomfort is involved. It takes 30-60 minutes.

Note: If, during your pregnancy, a routine prenatal ultrasound or other signs raise your obstetrician’s suspicion of a congenital heart defect in the fetus, a cardiac ultrasound (described in the paragraph above) of the baby in utero will usually be the next step. The cardiac ultrasound (fetal echocardiogram)—focusing exclusively on the baby’s heart—can detect many congenital heart defects.

  • chest x-ray: A conventional chest x-ray will evaluate the size and spatial relationships of the heart within the child’s chest, as well as any abnormalities or excess fluid in the lungs. It takes a few moments. There is no pain or discomfort.
  • electrocardiogram (EKG):An EKG evaluates the electrical activity of your child’s heart. It helps to evaluate the causes of symptoms and to detect heart abnormalities, including truncus arteriosus. It’s performed by placing electrodes on the arms, legs and chest to record the electrical activity. The test takes five minutes or less and involves no pain or discomfort.

Tests to monitor the condition of the truncal (aortic) valve and the conduit repair over time can include:

  • cardiac catheterization: provides detailed visual information and measurements about the structures and pressures inside the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta.
  • Catheterization can also be used in an intervention later on—for instance, to address an obstruction of the conduit that might have developed, or a valve that has started leaking.
  • cardiac magnetic resonance imaging (MRI): provides a picture of the heart and blood vessels, but without using x-rays. MRI is rarely used in babies with truncus arteriosus, but may be helpful in follow-up to surgery to detect complications.

Truncus arteriosus glossary

aorta
one of the heart’s two great arteries. In a normal heart, the aorta arises from the left ventricle and carries oxygen-rich blood out to the body. In truncus arteriosus, it remains connected with the pulmonary artery. 

cardiac catheterization (cardiac cath)  provides detailed visual information and measurements about the structures and pressures inside the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta. 


cardiac/cardio  pertaining to the heart

cardiac magnetic resonance imaging (MRI)
provides a picture of the heart and blood vessels, but without using x-rays. MRI is rarely used to diagnose babies with truncus arteriosus, but may be helpful in follow-up to surgery to detect complications. 


cardiac surgery  surgical procedure performed on the heart or one of the blood vessels connected to the heart 

cardiac surgeon

doctor who performs surgery on the heart. A pediatric cardiac surgeon performs surgery on the hearts of infants and children. 

cardiologist
 
doctor who diagnoses and treats heart problems non-surgically. A pediatric cardiologist treats infants, children and some adults with heart problems.

chest x-ray  shows the size and spatial relationships of the heart within the child’s chest. It takes a few moments. There’s no pain or discomfort. 

cyanosis (cyanotic)  blue color of skin, lips and nailbeds caused by a reduction in the amount of oxygen-rich (red) blood circulating in baby’s bloodstream

congenital heart defect  heart defect present at birth. The heart usually starts to form in the first eight weeks of fetal development. It’s thought that most congenital heart defects develop during this period. 

diagnosis  medical determination of illness or disease based on history, physical examinations and advanced technology diagnostic testing tools 

echocardiogram (echo, cardiac ultrasound)  evaluates the structure and function of your child’s heart using electronically recorded sound waves that produce a moving picture of the heart, heart valves and blood vessels. For more, see Tests. 


electrocardiogram (ECG or EKG)  evaluates the electrical activity of your child’s heart. An EKG is usually the initial test for evaluating the causes of symptoms and detecting heart abnormalities, including truncus arteriosus. For more, see Tests. 

heart-lung machine (cardio-pulmonary bypass)
machine that does the work of the baby’s heart and lungs while open heart surgery is performed. The heart-lung machine protects the heart muscle, brain and other organs during the operation. 


IV
intravenous, into the vein; one method of delivering medication 

neonatologist  doctor who specializes in illnesses affecting newborns, both premature and full-term

pulmonary artery  one of the heart’s two great arteries, which normally arises from the right ventricle and carries oxygen-poor blood to the lungs, where it receives oxygen. In truncus arteriosus, it remains connected with the aorta. 

sporadic  occurring by chance, occasionally, not inherited 

signs and symptoms  the presenting reasons why a child needs medical attention. Characteristics such as onset, quality, triggers and severity help diagnosticians to determine a disease, or to decide which testing is needed to determine the disease. 

truncus arteriosus  a complex defect in which a single vessel (normally there are two separate arteries) arising from the heart functions as both the aorta and the pulmonary artery—the single great vessel has failed to separate completely, instead leaving a connection between the aorta and pulmonary artery. 

ventricular septal defect (VSD)  a congenital (present at birth) heart defect in which there is a hole in the tissue wall (septum) that divides the two lower chambers of the heart (right and left ventricles). This occurs in all babies with truncus arteriosus. The VSD is surgically closed at the time of surgical repair of truncus arteriosus. 


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