Testing & diagnosis for single ventricle defects in children

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The exam

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

Your Children’s Hospital Boston cardiologist will also investigate whether he has a heart murmur—a noise heard through the stethoscope that’s caused by the turbulence of blood flow. The location in the chest where the murmur is best heard, as well as the sound and character of the murmur itself, will give the cardiologist an initial idea of the kind of heart problem your baby may have.
 

The tests

Some combination (not necessarily all) of the following medical tests will also used to diagnose your child’s single ventricle defect:

  • electrocardiogram (EKG): An EKG is used to evaluate 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 single ventricle defects. It is 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.
  • cardiac ultrasound (echocardiogram): An echocardiogram 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. If your baby has a single ventricle defect, the ultrasound will reveal the absence of a tricuspid or mitral valve and an underdeveloped ventricle. No discomfort is involved. It takes 30-60 minutes.

If, during your pregnancy, a routine prenatal ultrasound or other signs cause your obstetrician to suspect 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—focusing exclusively on the baby’s heart—can usually detect whether a congenital heart defect is present.

  • cardiac magnetic resonance imaging (cardiac MRI): An MRI is a non-invasive test using 3-D imaging technology produced by magnets to accurately determine the blood flow and functioning of your child’s heart. No pain is involved, although an IV may be needed. It takes about an hour.
  • 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 the presence of a single ventricle defect. It takes a few moments. There is no pain or discomfort.
  • cardiac catheterization: This invasive procedure performed under sedation provides detailed visual information and measurements about the structures 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.

Single ventricle defect 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.
 
bi-directional Glenn
surgical procedure that frequently replaces the Blalock-Taussig shunt with another connection to the pulmonary artery to provide a path for blue blood to go out to the lungs. The superior vena cava is surgically connected to the right pulmonary artery to direct blood from the upper part of the body to the lungs to receive oxygen. This is the second procedure of the Fontan Sequence.

Blalock Taussig Shunt
a surgical procedure to create a pathway for blood to reach the lungs. A shunt (tube) may be inserted between the aorta or one of its branches and pulmonary artery to increase blood flow. This is frequently the first procedure of the Fontan Sequence.

cardiac catheterization
an invasive diagnostic procedure performed under sedation to obtain detailed visual information and measurements about the structures inside the baby’s heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as in the pulmonary artery and aorta.

cardiac/cardio
pertaining to the heart 

cardiac magnetic resonance imaging (MRI)
a non-invasive diagnostic tool using 3-D imaging technology produced by magnets to accurately determine the blood flow and functioning of your child's heart


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. 

The Center for Families at Boston Children’s  dedicated to helping families find the information, services and resources they need to understand their child’s medical condition and take part in their care 


chest x-ray  a diagnostic tool chest to evaluate the size and spatial relationships of the heart within the child’s chest, as well as the presence of TA and its associated defects

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 (CHD)  heart defect present at birth. The heart usually starts to form in the first eight weeks of fetal development. It is 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 

double outlet right ventricle (DORV)  a congenital heart defect in whichthe right ventricle has an outlet to both the aorta and the pulmonary artery. When there’s an underdeveloped left ventricle, a DORV is considered a single ventricle defect.

echocardiogram (echo, cardiac ultrasound)  a diagnostic tool that evaluates the structure and function of the heart using sound waves that produce a moving picture of your child’s heart and heart valves. The ultrasound can be used to understand flow in the different chambers and to estimate pressures.

electrocardiogram (ECG, EKG)  a diagnostic tool that 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 single ventricle defects.

Fontan sequence  a series of three operations performed on children who have just one full-sized functioning ventricle (a single ventricle defect). The Fontan operations are usually performed at intervals starting within days or months after birth and ending at a few years of age. The Fontan operation is the third procedure in the Fontan Sequence. 

hypoplastic left heart syndrome (HLHS)  a single ventricle defect in which most of the structures on the left side of the heart, including the left ventricle that pumps blood out of the body, are small and underdeveloped. 

mitral valve atresia  a single ventricle defect, often associated with HLHS, in whichthe mitral valve doesn’t develop properly, and blood from the left atrium doesn’t flow to the left ventricle. As a result, the left ventricle becomes small and underdeveloped. 

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

Norwood procedure
for HLHS, the first stage surgery, usually performed in the first week of the baby’s life. Developed at Children’s Hospital Boston, the procedure connects the right ventricle to the aorta so that its flow will be delivered to the body through branches of the aorta. Two alternatives to the Norwood procedure are sometimes performed based on surgical preference, the child’s size and the anatomy of the defects.

pediatric cardiologist  a doctor who specializes in the diagnosis and medical management of congenital heart defects, as well as heart problems that may develop later in childhood 

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 

pulmonary artery banding (PAB)
a repair in which a band is secured around the pulmonary artery to limit blood flow to the lungs
 

shunt  an artificial connection of blood vessels in order to redirect blood to the lungs in children with inadequate flow for oxygenation 

single left ventricle (common-inlet ventricle, double-inlet ventricle)  This defect occurs when the heart's right ventricle is undeveloped and doesn't perform its job of pumping blood to the lungs. Both atria connect to the single ventricle either through a single valve (called a common-inlet ventricle) or separate valves (called a double-inlet ventricle). 


single ventricle defect (SVD)  one of several congenital (present at birth) heart defects in which the heart has only one fully functioning ventricle.
 

sporadic
occurring by chance, occasionally, not inherited 

symptoms
 
the presenting reasons why a child needs medical attention. A symptom’s 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. 

tricuspid atresia
 
a rare congenital (present at birth) heart defect in which the tricuspid valve is absent or blocked off, resulting in a small or absent right ventricle that cannot adequately pump blood to the lungs; usually considered a single ventricle defect. 





For a more complete list of cardiovascular terms, visit our Cardiovascular Glossary.

For in-depth visual information on several of the conditions, diagnostic tools and procedures described above, visit Children’s cardiovascular Multimedia Library.

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