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Single Ventricle Defects

  • Single ventricle defects encompass a large spectrum of disorders, most of which require a series of staged surgeries. At Children's we treat a large volume of these and many other congenital heart problems, so we have a deep expertise.

    --David W. Brown, MD, Boston Children's Hospital Department of Cardiology

    If your infant or child has been diagnosed with a single ventricle defect, an understanding of the condition will help you to cope with this very rare congenital (present at birth) heart defect.

    “Single ventricle defect” is a general, non-specific term used to describe several congenital heart defects that differ from each other, but that share the same problem: The heart has only one adequate-sized functional pumping chamber (ventricle).

    normal heart
     Comparison with normal heart

    Normally, the heart has two pumping chambers (ventricles) that serve as the heart's pumping chambers. The right ventricle normally pumps blue blood (without oxygen) out of the heart through the pulmonary artery to the lungs for oxygen, and the left ventricle normally pumps red blood (with oxygen) through the aorta out of the heart to the body.

    In one of the single ventricle defects, only one of those pumping chambers is adequately-sized and functional. Additional defects and uniquely complex heart anatomy distinguish one single ventricle defect from another.

    HLHS normal heart

    Two examples of single ventricle heart defects. 

    The Boston Children's Hospital approach to single ventricle defects

    The experienced surgeons in the Boston Children’s Cardiac Surgery Department understand how distressing the diagnosis of a single ventricle defect can be for parents. You can have peace of mind knowing that our surgeons treat some of the most complex pediatric heart conditions in the world, with overall success rates approaching 98 percent—among the highest in the nation among large pediatric cardiac centers.

    We use the following elements to provide the best possible outcomes:

    • accurate diagnosis and assessment: Subtle variations in heart anatomy—such as the arrangement of the arteries that feed the heart—can negatively impact surgical outcomes if not identified ahead of time. We utilize the most advanced techniques available for precisely determining your child’s heart anatomy, with interpretation by highly experienced cardiologists.
    • sophisticated therapies: Babies with single ventricle defects usually need emergency therapy. Our cardiac intensive care unit (CICU), cardiac cath labs and operating rooms deal with the urgent needs of our smallest patients 24/7. Boston Children’s CICU was one of the first such units developed anywhere; professionals from many countries visit our CICU to learn advanced techniques of post-operative care.

      Boston Children’s Congenital Heart Valve Program cares for children with congenital heart defects that involve absent or malfunctioning heart valves. Our surgeons have a strong record of excellence in heart valve repair and replacement, including minimally invasive techniques.
    • experienced team of skilled professionals to perform surgery and other procedures: Boston Children’s cardiac surgeons have vast experience in the surgical procedures used to repair this defect, and they work with nurses and doctors who are focused on providing expert care after surgery.
    • close, expert medical follow-up: If you live in the Boston area, a Boston Children’s cardiologist will follow your child after surgical repair; if you live in another part of the country or the world, a Boston Children’s cardiologist will work closely with your local cardiologist. Adult patients with single ventricle defects are followed by Boston Children’s cardiologists with special training for adults with congenital heart problems.

    At Boston Children’s, we provide families with a wealth of information, resources, programs and support—before, during and after your child’s treatment. With our compassionate, family-centered approach to expert treatment and care, you and your child are in the best possible hands.

    For visual and audio information on some congenital heart defects, visit Boston Children’s cardiovascular Multimedia Library.

    Single ventricle defect: Reviewed by David W. Brown, MD
    © Boston Children's Hospital, 2011

     

  • It’s natural for you to be concerned right now about your child’s health—the diagnosis of a single ventricle defect can be overwhelming. But you can rest assured that at Boston Children's Hospital, your child is in expert hands.

    Consistently ranked among the top pediatric hospitals in the United States, Boston Children's is home to the world's most extensive pediatric hospital research enterprise; and we partner with elite health care and biotech organizations around the globe. But as specialists in innovative, family-centered care, our physicians never forget that your child is precious, and not just a patient.

    What are single ventricle defects?

    Normally, the heart has a right and left ventricle that serve as the heart's pumping chambers. The right ventricle normally pumps blue blood (without oxygen) out of the heart through the pulmonary artery to the lungs for oxygen and the left ventricle normally pumps red blood (with oxygen) through the aorta out of the heart to the body.

    “Single ventricle defect” is a general term used to describe several very different complex congenital (present at birth) heart defects that share the same problem: the heart has only one functional ventricle.

    • The 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).
    • Sometimes it’s the left ventricle that’s underdeveloped and there’s a single right ventricle, but this is rare.

    The following congenital heart defects are considered single ventricle defects:

    • tricuspid atresia (TA)
      • TA is the abnormal development of the tricuspid valve, which prevents blood from passing from the right atrium to the right ventricle, as it should.
    • hypoplastic left heart syndrome (HLHS)
      • A 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 (often associated with HLHS)
      • The mitral valve does not develop properly, and blood from the left atrium doesn’t flow to the left ventricle.
      • The left ventricle becomes small and underdeveloped.
    • double outlet right ventricle (DORV)
      • Normally, a ventricle has just one outlet—for the left ventricle, it’s the aorta; for the right ventricle, it’s the pulmonary artery that leads to the lungs. In this defect the right ventricle has an outlet to both the aorta and the pulmonary artery.
      • There are usually other heart defects present.
      • When there’s an underdeveloped left ventricle, a DORV is considered a single ventricle defect.
    • pulmonary atresia with intact ventricular septum (PA/IVS)
      • Some forms of pulmonary atresia with a very small right ventricle will need a single-ventricle-defect approach because the right ventricle is too small to do its job.

    What causes single ventricle defects?

    The heart forms during the first eight weeks of fetal development. It’s at this time that defects that result in single ventricle emerge. Most of the time, these kinds of heart defects occur sporadically (by chance), which no clear reason for their development.

     Some congenital heart defects may have a genetic link—occurring due to a defect in a gene, a chromosome abnormality or environmental exposure—causing heart problems to occur more frequently in certain families.

     It’s important for parents to understand that you’ve done nothing to cause your baby’s tricuspid atresia and its accompanying defects. Nothing you have ingested or have been exposed to environmentally has been definitively be linked to having a baby with a single ventricle defect.

    Why are single ventricle defects a concern?

    Single ventricle heart defects can cause children to become cyanotic (blue color), since a mixture of oxygen-poor (blue) and oxygen-rich (red) blood vessels leaves the heart and goes to the body. Just how much oxygen or how little oxygen depends on the type, location and severity of the defect. Some children will only be mildly cyanotic, while others won’t have enough oxygen in the blood to meet the body's needs and will need early treatment.

    What are the symptoms of single ventricle defects?

    Symptoms are usually noted shortly after birth. The most common symptoms of single ventricular defects include:

    • blue color of the skin, lips, and nailbeds (cyanosis)
    • rapid breathing
    • labored breathing
    • rapid heart rate
    • cool, clammy skin

    How do you diagnose single ventricle defects?

    Cyanosis is the major indication that there is a problem with your newborn. Your child's physician may have also heard a heart murmur during a physical exam. (A heart murmur is a noise caused by the turbulence of blood flowing through the openings that allow the blood to mix.) Your doctor will probably refer you to a pediatric cardiologist and/or a neonatologist for further evaluation.

    Other tests are usually needed to help with the diagnosis, and may include:

    These tests may be looking for:

    • poor perfusion (circulation to the body’s tissues)
    • blood pressure differences between the right arm and lower extremities
    • abnormal heart sounds

    How do you treat single ventricle defects?

    The treatments for single ventricle defects vary, depending mostly on the amount of mixing of blood, and how much blood is being pumped through the lungs. This varies greatly from defect to defect, but always involves surgery or surgeries.

    • pulmonary artery band
      • implanted onto the main pulmonary artery in order to restrict blood flow to the lungs
      • mesh-type device that wraps around the main pulmonary artery and is systematically closed until pulmonary pressures are normal
      • often recommended for babies with too much blood flow to the lungs
      • can be removed at any time
    • shunt
      • surgical connection between an artery from the aorta to the pulmonary artery
      • increases blood flow to the lungs
      • recommended for babies with too little blood flow to the lungs (blue babies)

    Other procedures may accompany these treatments, depending on the anatomy of the defect. Common to all is that these procedures are temporary in order to stabilize the baby’s circulation. Additional procedures are usually necessary as the child grows. 

    Will my child be OK?

    Open heart surgery at Boston Children’s has among the highest success rates in the United States among large pediatric cardiac centers. With our advanced surgical techniques and timely, family-centered care, the likelihood is very good that your child will undergo successful surgery.

    Note: Infants who’ve had initial surgery for a single ventricle defect are typically enrolled in Boston Children’s Home Monitoring Program between the baby’s Stage I and Stage II operations in the Fontan sequence. For more, see “Children’s Home Monitoring Program for your child” in Treatment & care.

    How common or rare are single ventricle defects?

    Single ventricle defects are rare, occurring in just five out of every 100,000 live births. Single ventricle defects occur equally in boys and girls, and usually become apparent within the first month of life. Signs of a severe single ventricle defect can be apparent at birth (blue baby syndrome) or shortly thereafter.

    What about later in life?

    Your cardiologist will help you create a long-term care program as your baby matures into childhood, the teen years and even adulthood. Most people who have had congenital heart disease repair will have an ongoing relationship with their cardiologist since they will always be at some risk for arrhythmias, infections, heart failure or stroke. We will treat complications and will advise on daily-life issues such as exercise and activity levels, nutrition and precautions related to pregnancy.

    Where can my child find care and support when he grows up?

    • The Boston Adult Congenital Heart and Pulmonary Hypertension Service (BACH) provides long-term inpatient and outpatient care and advanced therapeutic options for patients with congenital heart disease and pulmonary hypertension as they reach and progress through adulthood.

      BACH is an international center for excellence, with physicians and services from Boston Children’s, Brigham and Women’s Hospital and Beth Israel Deaconess Medical Center. The center promotes and supports clinical and scientific research for the advancement of care of these patients, and is a leader in the education of providers caring for this unique population.
    • The Adult Congenital Heart Association (ACHA) is a national not-for-profit organization dedicated to improving the quality of life—and extending the life—of adults with congenital heart defects. The organization serves and supports many of the adults with congenital heart defects (thought at this time to be as many as one million), their families and the medical community, as well as conducting research and providing advocacy, outreach and education.

    FAQ

    Q: What is a single ventricle defect?
    A: “Single ventricle defect” is a general, non-specific term used to describe several congenital heart defects that differ from each other, but that share the same problem: The heart has only one adequate-sized functional pumping chamber (ventricle).

    As a result, one ventricle is underdeveloped (hypoplastic) or missing (atretic) and can’t adequately pump blood to the lungs. The heart defect causes children to be cyanotic (blue), since a mixture of oxygen-poor (blue) and oxygen-rich (red) blood leaves the heart and goes to the body.

    Q: If my child has a single ventricle defect, will he be OK?
    A: Open heart surgery at Boston Children's Hospital has among the highest success rates in the United States among large pediatric cardiac centers. With our advanced surgical techniques and timely, family-centered care, the likelihood is very good thatyour child will undergo successful surgeries for single ventricle defects.                 
     

    Q: How does Boston Children’s treat single ventricle defects?
    A: The skilled surgeons at Boston Children’s virtually always treat single ventricle defects with a series of operations performed in the baby’s first few years. The goal of these surgeries is to re-route blood flow so that enough oxygen is added to the baby’s bloodstream to meet his body’s needs.

    Q: What are the symptoms of a single ventricle defect?
    A: Many babies with a single ventricle defect show symptoms on the day they are born or shortly thereafter. Other babies usually show symptoms in the first month of life. These can include:

    • blue color of the skin, lips, and nailbeds (cyanosis)
    • rapid breathing
    • labored breathing
    • rapid heart rate
    • cool, clammy skin

    Q: If my child has a single ventricle defect, what should I ask my Boston Children’s doctor?
    A: Some of the questions you may want to ask include:

    • What tests will you perform to further diagnose my child?
    • Which single ventricle defect does he have? What are its characteristics?
    • Does he need surgery? How long will the surgery take? How long for him to recover?
    • Will he need additional surgeries during early childhood?
    • Will my child be OK if he has congenital heart disease?
    • Will there be restrictions on my child’s activities in the future?
    • Will there be long-term health effects? Can this recur?
    • Will there be continuing risks?
    • What can we do at home?
       

    Q: When are single ventricle defects usually diagnosed, and how?
    A:A single ventricle defect like HLHS can sometimes be detected on a routine prenatal ultrasound. Many babies with a single ventricle defect show symptoms on the day they’re born or shortly thereafter. Other babies usually show symptoms in the month of life.

    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 Boston Children’s cardiologist will detect a heart murmur, measure blood oxygen levels (non-invasively) and order diagnostic testing, which could include EKG, cardiac ultrasound, cardiac MRI, cardiac catheterization or chest x-ray.

    Q: What should we do at home after surgery for a single ventricle defect?
    A: Consult your child’s cardiologist for guidance on follow-up care—including:

    • wound care while your baby is healing
    • a nutritional program to encourage weight gain
    • an oral hygiene program to prevent infection
    • an appropriate exercise regimen to build body mass and achieve fitness

    As your baby recovers and grows, be sure to follow a program of regular well-baby/well-child checkups.

    Q: What is the long-term outlook for children who’ve had a single ventricle defect?
    A: Surgical techniques for single ventricle defects are continually being refined, and long-term outcomes are continually improving. Still, patients will need lifelong monitoring and medication, since they’ll always be at some risk for arrhythmias, blood clots, infections, heart failure or stroke.

    Q: What causes single ventricle defects?
    A: Most often this heart defect occurs sporadically (by chance), with no clear reason for its development. It’s important for parents to understand that you’ve done nothing to cause your baby’s single ventricle defect. Nothing you’ve ingested or have been exposed to environmentally has been definitively be linked to having a baby with a single ventricle defect.

    Q: What is Children’s experience treating congenital heart defects?
    A: Children’s surgeons treat some of the most complex pediatric heart conditions in the world, with overall success rates approaching 98 percent—among the highest in the nation among large pediatric cardiac centers.

    Our experts have pioneered some of medical science’s most advanced heart treatments, now in use around the globe. Boston Children’s is the only major pediatric heart center in the world performing fetal heart interventions in volume for certain congenital defects.

    Q: What heart research and innovations are coming from Boston Children’s?
    A: A significant amount of the important cardiac research being conducted at Boston Children's Hospital aims to refine and advance the open heart surgery and catheterization procedures that treat congenital heart defects in newborns and young children—including single ventricle defects.

    Read more about Boston Children’s cardiac research initiatives and projects in cardiology research.

    Causes

    The heart forms during the first eight weeks of fetal development. It’s at this time that defects that result in single ventricle emerge. Most of the time, these kinds of heart defects occur sporadically (by chance), which no clear reason for their development.

    Some congenital heart defects may have a genetic link—occurring due to a defect in a gene, a chromosome abnormality or environmental exposure—causing heart problems to occur more frequently in certain families.

    It’s important for parents to understand that you’ve done nothing to cause your baby’s single ventricle defect. Nothing you’ve ingested or have been exposed to environmentally has been definitively be linked to having a baby with a single ventricle defect.

    Symptoms

    Many babies with a single ventricle defect show symptoms on the day they are born or shortly thereafter. Other babies usually show symptoms in the first month of life. These can include:

    • blue color of the skin, lips, and nailbeds (cyanosis)
    • rapid breathing
    • labored breathing
    • rapid heart rate
    • cool, clammy skin

    If your child has any of these symptoms, your pediatrician will probably refer you to a pediatric cardiologist for testing, diagnosis and a determination of treatment.

    When to seek medical advice

    Call your health care provider immediately if your baby or child is having difficulty breathing or is breathing rapidly, has a bluish color, tires too easily or is uninterested in eating.

    Questions to ask your doctor

    If your child is diagnosed with a single ventricle defect, you may feel overwhelmed with information. It’s easy to lose track of the questions that occur to you—so lots of parents find it helpful to jot down questions as they arise. This way, when you talk to your child’s doctors, you can be sure that all of your concerns are addressed.

    Some of the questions you may want to ask include:

    • What tests will you perform to further diagnose my child?
    • Which single ventricle defect does he have? What are its characteristics?
    • Does he need surgery? How long will the surgery take? How long for him to recover?
    • Will he need additional surgeries during early childhood?
    • Will my child be OK if he has congenital heart disease?
    • Will there be restrictions on my child’s activities in the future?
    • Will there be long-term health effects? Can this recur?
    • Will there be continuing risks?
    • What can we do at home?

    Who’s at risk

    Congenital heart defects usually occur sporadically (by chance), with no clear reason for their development. So, it’s difficult to predict who’s at risk. Familial cases have been reported, but no genetic link has been confirmed. Single ventricle defects occur equally in boys and girls. In general, if you have a child with a congenital cardiac defect, the chance of your having another child with a defect is about 2 to 3 percent.

    Complications

    The first children who underwent the staged surgical repairs for tricuspid atresia and some other single ventricle defects are now in their 20s and largely doing well. However, complications can occur, including arrhythmias, blood clots, infections within the heart (endocarditis), easy tiring and loss of protein from the digestive tract. As your child grows, it’s important for him to be monitored closely by his cardiologist.

    Long-term outlook

    Surgical techniques for single ventricle defects are continually being refined, and long-term outcomes are continually improving. Even so, patients will need lifelong monitoring and medication, since they will always be at some risk for arrhythmias, blood clots, infections, heart failure or stroke.

    For teens

    If you’re a teen with a congenital heart defect, you have a lot to cope with. Besides the typical issues any teenager faces—from social acceptance to body changes and more—you’ll also have to deal with medical appointments and procedures … some delay of your natural wish for independence … feeling different … and assuming a lot of personal responsibility for maintaining your own good health.

    If you feel overwhelmed, depressed or anxious through this important time in your transition to adulthood, speak to your doctor or counselor to get help.

    For adults

    If you were treated for congenital heart disease as a child, you’re probably being followed by your cardiologist, since complications from early heart disease can arise in adulthood.

    You may need lifelong monitoring and medication, since you’ll continue to be at some risk for arrhythmias, blood clots, infections, heart failure or stroke. Going forward, your cardiologist will also advise you on activity levels, pregnancy issues and certain lifestyle choices.

    Fortunately, Boston Children’s can help adults with congenital heart defects. Many adults who were patients as babies or children continue to be monitored by the clinicians who have followed them since childhood.

    In addition, our Boston Adult Congenital Heart and Pulmonary Hypertension Service (BACH) provides long-term inpatient and outpatient care and advanced therapeutic options for patients with congenital heart disease and pulmonary hypertension as they reach and progress through adulthood.

    BACH is an international center for excellence, with physicians and services from Boston Children’s, Brigham and Women’s Hospital and Beth Israel Deaconess Medical Center. The center promotes and supports clinical and scientific research for the advancement of care of these patients, and is a leader in the education of providers caring for this unique population.

    What you can do at home

    Consult your child’s cardiologist for guidance on follow-up care—including:

    • wound care while your baby is healing
    • a nutritional program to encourage weight gain
    • an oral hygiene program to prevent infection
    • an appropriate exercise regimen to build body mass and achieve fitness

    As your baby recovers and grows, be sure to follow a program of regular well-baby/well-child checkups.

    Prevention

    It’s important to understand that as parents, you’ve done nothing to cause your child’s single ventricle defect, and there are no precautions you could have taken to prevent it. Congenital heart defects usually occur sporadically (by chance), with no clear reason for their development.

    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: 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.

  • 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.
  • Having identified your child's heart condition, we're able to begin the process of treating him, so that we may ultimately return him to good health. Specific treatments for your child's single ventricle defect depend on the extent and location of the defect, as well as other variables.

    Your child most likely will be admitted to Boston Children's cardiac intensive care unit (CICU) once symptoms are noted. Before surgery, (and possibly afterwards, while his heart and lungs recover), he may be placed on a life support system called ECMO (extracorporeal membrane oxygenation), an advanced technology that functions as a replacement for a critically ill child's heart and lungs.

    We may also give him IV (intravenous) medications to help his heart and lungs function more efficiently.

    Treatment options

    Once he's stabilized, your baby's treatments may include: 

    • medication: Doctors may administer an IV (intravenous) medication to keep the infant's ductus arteriosus (the prenatal connection between the aorta and the pulmonary artery, which usually closes shortly after birth, but which is now important as a temporary alternative opening for blood flow) from closing.
    • cardiac catheterization: Prior to your child's initial surgery, or between staged operations (see next bullet below), doctors may perform a cardiac catheterization procedure to improve the mixing of oxygen-rich (red) blood and oxygen-poor (blue) blood. A special catheter with a balloon in the tip is used to create or enlarge an opening in the atrial septum (wall between the left and right atria).
    • surgery: Some single ventricle defects are treated using the Fontan Sequence—a staged series of three operations performed between the first few days or months and the first few years of life.
      The first stage is to optimize the blood flow to the lungs if it is too much or too little. If the blood flow is too little, a Blalock-Taussig shunt is usually performed. If it is too much, the pulmonary artery may be banded to control blood flow. If blood flow is neither too little nor too much, the first stage may be skipped, and the second stage—the bi-directional Glenn—may be performed at 4 to 8 months of age.
    • Blalock-Taussig shunt: This first operation, done when the blood flow to the lungs is inadequate, is usually performed soon after birth to create a pathway for blood to reach the lungs. A connection is made between the first artery off the aorta (right subclavian artery) and the right pulmonary artery.

      Some of the blood traveling through the aorta towards the body will “shunt” through this connection and flow into the pulmonary artery to receive oxygen.

      Following the procedure, your child will still have some degree of cyanosis, since oxygen-poor (blue) blood from the right atrium and oxygen-rich (red) blood from the left side of the heart will mix and flow through the aorta to the body.
    • pulmonary artery banding (PAB): This alternative first operation, done when the blood flow to the lungs is excessive, is performed to reduce and limit pulmonary artery blood flow and to protect the pulmonary vessels from hypertrophy and pulmonary hypertension.
    • For HLHS, the first stage surgery is called the Norwood procedure. Developed at Children's, the procedure is usually performed in the first week of the baby's life. Itconnects 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. These are:
      • the Sano modification: places a conduit between the pulmonary artery and the right ventricle instead of the modified Blalock-Taussig Shunt
      • the hybrid procedure: combines cath lab techniques, such as stenting, with surgical techniques. In this procedure, the interventional cardiologist and the cardiovascular surgeon work together.
    • bi-directional Glenn: The second operation, often performed when a child is between 4 and 12 months old, reduces the single ventricle's workload, and thus the risk of damage, and sets the stage for the Fontan procedure to come.

      This procedure replaces the Blalock-Taussig shunt (which the baby's heart will outgrow) with another connection to the pulmonary artery. The superior vena cava (the large vein that returns oxygen-poor blood from the head and arms back to the heart) is surgically connected to the pulmonary artery so that blood can proceed to the lungs to receive oxygen.
    • Fontan procedure: This final operation in the sequence, done in the first few years of life, is performed as the baby achieves further lung maturity, enabling the vessels of the lungs to now accommodate all the body's blue blood.

      The principle of the procedure is that it's not necessary to have a ventricle that pumps to the lungs so long as the lung arteries have a low resistance, are well developed and are of good size, and as long as the single ventricle fills at a low pressure.

      Surgery involves directly connecting the returning blue blood into the pulmonary arteries. This can be achieved in a number of different ways, sometimes with, and sometimes without, the use of synthetic tubes (conduits).

    At home: caring for your child after surgery for a single ventricle defect

    Babies usually remain cyanotic after the first two operations and until the final (Fontan) operation is performed. After the Fontan procedure, you can expect your child's oxygen levels to improve. In fact, many children experience major improvements in growth and development after Fontan, eventually catching up to other children.

    After each operation, your child will need to be followed by a pediatric cardiologist who will adjust your child's medications, measure his oxygen levels and determine when it is time for the next operation.

    Your child's cardiologist will also offer recommendations for post-operative follow-up care, including:

    • wound care while your baby is healing
    • a nutritional program to encourage weight gain
    • an oral hygiene program to prevent infection
    • an appropriate exercise regimen to build body mass and achieve fitness

    As your baby recovers and grows, be sure to follow a program of regular well-baby/well-child checkups. And to the greatest extent possible, encourage your child to live normally. Even if some physical activities are limited, your child and your family can enjoy a full life together.
     

    Boston Children's Home Monitoring Program for your child

    An infant with single ventricle anatomy needs support with shunt-dependent blood flow between his Stage I and Stage II surgical repairs (see surgery descriptions above on this page).

    The results of the Stage I surgery have improved—with nearly 90% of infants who are cared for in experienced centers discharged home after the first stage. So we can now focus new attention on reducing the known mortality of 10 to15 percent for these infants between their Stage I and Stage II surgical repairs.

    Research shows the vital importance of a Home Monitoring Program, including daily at-home assessments of oxygen saturations and weight between the Stage I and Stage II surgeries.

    Checking your baby's daily weight:

    • alerts you and your child's providers to dehydration
    • enables appropriate immediate intervention
    • decreases the risk of sudden death at this very fragile stage in your infant's multiple-surgery sequence

    During this period between the Stage I and Stage II surgeries, your child's pediatric cardiologist and pediatrician will be in close contact with you as your child's primary home caregiver. (After your child's Stage II repair, this intensive level of home monitoring will no longer be necessary.)

    In Boston Children's Home Monitoring Program:

    • You'll be given detailed guidelines and goals for your child's:
    • growth
    • weight gain
    • oxygen saturations
       
    • You'll be instructed to call your child's cardiologist if his goals for growth, weight gain and oxygen saturation aren't met, or if:
      • your child is breathing harder, faster or is fussy beyond his baseline
      • you have any questions or concerns
         
    • You'll be supplied with a pulse oximeter and a baby scale and shown how to use both instruments. You'll measure your child's saturations twice a day and weigh the baby daily—checking against given guidelines and goals.
       
    • You'll record your baby's weights, oxygen saturations and general observations in a daily log, and will share this log with the pediatrician/cardiologist during check ups.
       
    • You'll consult your pediatrician if your child:
    • is experiencing nausea/vomiting/diarrhea
    • is not having sufficient wet diapers
    • is feverish
       
    • You'll have weekly calls with your designated pediatric nurse practitioner, who will consult with you, and who will notify your child's cardiologist of any concerns that arise.

    As he grows: your child's long-term outlook

    Surgical techniques for single ventricle defects are continually being refined, with long-term outcomes constantly improving. Still, patients will need lifelong monitoring and medication, since they'll always be at some risk for arrhythmias, infections, heart failure or stroke.

    Your cardiologist will help you create a long-term care program as your baby matures into childhood, the teen years and even adulthood. Most people who've had congenital heart disease repair will have an ongoing relationship with their cardiologist. We'll prevent and treat complications, and will advise on daily-life issues such as activity levels, nutrition and precautions related to pregnancy.

    Coping and support

    At Boston Children's, we understand that a hospital visit can be difficult, and sometimes overwhelming. So, we offer many amenities to make your child's—and your own—hospital experience as pleasant as possible. Visit The Center for Families for all you need to know about:

    • getting to Boston Children's
    • accommodations
    • navigating the hospital experience
    • resources that are available for your family

    In particular, we understand that you may have a lot of questions if your child is diagnosed with a single ventricle defect. How will it affect my child long term? What do we do next? We can connect you with a number of resources to help you and your family through this difficult time, including:

    • patient education: From the office visit to pre-op to the recovery room, our nurses will be on hand to walk you through your child's treatment and help answer any questions you may have — How long will I be separated from my child during surgery? What will the operating room be like? They will also reach out to you by phone, continuing the care and support you received while at Boston Children's.
    • parent-to-parent: Want to talk with someone whose child has been treated for a single ventricle defect? We can often put you in touch with other families who've been through the same procedure that you and your child are facing, and who will share their experiences.
    • faith-based support: If you're in need of spiritual support, we'll connect you with the Boston Children's chaplaincy. Our program includes nearly a dozen clergy— representing Protestant, Jewish, Muslim, Roman Catholic, and other faith traditions—who will listen to you, pray with you and help you observe your own faith practices during your hospital experience.
    • social work: Our social workers and mental health clinicians have helped many families in your situation. We can offer counseling and assistance with issues such as coping with your child's diagnosis, stresses relating to coping with illness and dealing with financial difficulties.
    • As your child reaches adulthood, you'll want him to know about the Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Service. Boston Children's is a founding institution of BACH—an international center for excellence, providing long-term inpatient and outpatient care and advanced therapeutic options as needed for congenital heart disease patients as they reach and progress through adulthood.

    You'll be comforted to know …

    … that Boston Children's Hospital pioneered interventional catheterization for many congenital heart defects.

    Boston Children's Heart Care Center 

    The Heart Care Center at Boston Children's is the largest pediatric heart program in the United States. Our staff of more than 80 pediatric cardiac specialists cares for thousands of children and adults with congenital and acquired heart defects each year, from simple to complex cases. We have experience treating rare heart problems—with results that are among the best in the world

  • Pediatric cardiologists and pediatric cardiovascular surgeons at Boston Children's Hospital have pioneered the interventional catheterization repair techniques now used widely for many congenital heart defects, including tricuspid atresia.

    A significant amount of the groundbreaking cardiac research currently being conducted at Boston Children’s aims to refine and advance the open heart surgery and catheterization procedures that correct congenital heart defects in newborns and young children—including single ventricle defects.

    Valve research

    At Boston Children's, our care is informed by our research. Our scientists investigate every aspect of the heart, and the conditions that affect it, so we can offer new and improved treatments to our patients.

    The primary goal of our research is to combine our clinical and engineering expertise to advance the state of the art in surgical repair of heart valves.

    Major themes of our research include:

    • development of novel devices and methods for surgical repair of valves
    • advanced imaging and image processing to better understand and treat diseased valves and to guide minimally-invasive procedures
    • computer simulation of patient-specific valve function to help plan an individual's valve surgery
       

    Cardiac surgery research

    Members of the Boston Children’s Cardiac Surgery Research Laboratory—a multidisciplinary team of basic and applied research investigators, all of whom hold faculty appointments at Harvard Medical School—are studying the mechanisms of heart disease and new treatments for children with congenital heart defects.

    Some principal areas of active research are:

    • surgical robotics and ultrasound-guided intracardiac surgery: The department is pioneering the use of 3-D ultrasound and laparoscopic techniques to operate on the beating heart.
    • myocardial metabolism and myocardial hypertrophy and heart failure: Researchers are exploring new methods of myocardial preservation during heart surgery and the role of angiogenic growth factors in heart failure.
    • tissue engineering to stimulate the growth of new tissue to repair congenital defects, including valve abnormalities, right ventricular defects and arrhythmias

    Learn more about Boston Children’s cardiac research.
     

    Cardiology research

    Boston Children’s is a world leader in opening new avenues of “translational research,” bringing laboratory advances to the bedside and doctor’s office as soon as possible. Senior medical staff members of the Department of Cardiology—all of whom hold faculty appointments at Harvard Medical School—participate in clinical research activities, and many do laboratory research, as well.

    Learn more about Boston Children’s cardiology research.
     

    Innovations

    New Congenital Heart Valve Program

    Clinical heart researchers at Boston Children’s are creating a new Congenital Heart Valve Program with a focus on valve repair rather than replacement. The new center has formed in response to the greater emphasis currently being placed on identifying and treating valve abnormalities in children and young adults with congenital heart disease.

    Part of our approach to valve repair is finding new ways to get more accurate imaging information ahead of time with techniques such as 3-dimensional (3D) echo and cardiac magnetic resonance imaging. Through use of such techniques, our surgeons can better understand the mechanism of valve dysfunction, and the appropriate repair to address that mechanism. Boston Children’s studies in the new program will be ongoing.

    Creating new ways to perform surgery

    Problem: When surgeons perform heart surgery on a baby, they need to open the infant’s chest and stop her heart—an inva­sive, lengthy procedure that can cause life-threatening complications. Pedro del Nido, MD, chief of Cardiac Surgery at Boston Children’s, had to perform surgery on his tiny patients using this method, or come up with a way to improve it.

    Innovative solution: Del Nido decided to develop a way to perform surgery on a still-beating heart. But he needed two things that didn’t exist: superior imaging tools that could show the structures inside the heart while it’s beating, and tiny instruments to perform the intricate surgery.

    So, he bor­rowed technology from the videogame industry and developed stereo-rendered 3-D ultrasound imaging that allows surgeons to see inside the beating heart as a hologram.

    Del Nido also designed new instruments. One is a millimeter-sized tool that extends into the heart through needle-sized incisions. Using a joystick controller and real-time imaging, a surgeon can now navigate through the beating heart’s chambers to remove blockages, repair faulty valves and close leaks.

    The other new instrument is a cardioport device that allows instruments to be safely introduced into the cardiac chambers with­out the usual risks of blood loss or an air embolism.

    Results: Del Nido’s 3-D tool appears not only to provide superior imaging, but also to yield faster surgery times. Researchers using it to operate on pigs with congenital heart disease performed the procedure 44 per­cent faster than before. Dr. Del Nido’s cardioport will soon be tested in clinical trials and will facilitate further development of similarly novel instruments for heart repair.

  • My baby’s congenital heart defect

    By Casey Bolton

    During a routine ultrasound I had in the 20th week of my pregnancy, I learned that my soon-to-be-born son, Parker, would be born with a complex congenital heart defect (CHD) called hypoplastic left heart syndrome (HLHS).

    Parker patient HLHS

    Parker couldn’t be born in our home state of New Hampshire because none of the local hospitals were equipped to handle his CHD, so we scheduled an induced birth in Boston, and almost immediately after birth Parker was brought to Boston Children's Hospital Cardiac Intensive Care Unit (CICU).

    Parker’s first 24 hours of life were so unstable that doctors weren’t sure he’d make it. His condition was so severe that even as his parents we weren’t allowed to see him in the cardiac ICU until they could stabilize him with an emergency catheterization.

    Parker had to undergo his first heart intervention at just a few hours old. Then, at only seven days old, he underwent his first open heart surgery. His chest remained open after the surgery because his heart was so swollen; finally it was closed on Christmas Day. We spent that Christmas hoping for the best, but he was not adjusting well to the change.

    Due to Parker’s condition, doctors said he required either three open heart surgeries or a full heart transplant. We choose the three surgeries because Children’s had a reputation of successfully performing surgery in that way.

    Originally, Parker was supposed to come home between the first and second stage of his heart operations, but unfortunately he didn’t do well after the first surgery and needed to remain hospitalized with the support of the hospital equipment and medicine in order to survive to the second stage.

    Parker had the second open heart surgery on March 3, 2008. This was one of the earliest stage II surgeries performed by cardiac surgeon Dr. Sitaram Emani.

    Thanks to everyone at Boston Children’s, after nearly 15 weeks in the hospital, Parker was finally discharged and able to come home for the first time in his life.

    Parker is now home and he receives eight different medications, 16 times throughout the day. His next open heart surgery will be sometime between Thanksgiving and Christmas of this year. Eventually, Parker may need a heart transplant, but we are hopeful this isn’t for years to come.

    Because of Parker’s condition we have learned to cherish each and every moment. Life is no longer about milestones, but about the moments. The difference between good days and bad days no longer seems so important; we are just thankful for the days. We are forever grateful for the first-class care our son has received at Children’s; we truly felt he couldn’t have been in better hands.

    ParkerThe entire staff was amazing, and the dedication I felt from Dr. Sitaram Emani and Dr. David Brown goes beyond words. We were at Children’s for 95 straight days and I felt like they were always available to us for assistance, guidance or to answer our questions. They never made me feel rushed or that my concerns weren’t valid.

    Seeing their dedication to and passion for helping children made me want to make sure all future parents of children with heart conditions are aware of the amazing care their baby can receive from Children’s Hospital Boston.

    When I first received Parker’s diagnosis of HLHS, I had no idea what a congenital heart defect was, never mind what HLHS was. When I left the doctor’s office that morning in tears, the only thing I had was a tissue with hypoplastic left heart syndrome written on it.

    Through our personal journey I’ve learned there just isn’t enough awareness or funding for research for CHDs. I’m amazed that the cardiologist we first saw in New Hampshire who diagnosed my baby couldn’t provide any information about his condition. I think most of my fears stemmed from the lack of education on the CHD and fear of the unknown.

    As a result I have made it a life goal to raise awareness for CHDs so other expectant parents aren’t as lost as I was. I’ve contacted many people, medical professionals and organizations in attempts to open the lines of communication about the dangers CHD.

    Thanks to work I’ve done with New Hampshire Governor John Lynch, this past February 14 was declared CHD Awareness Day in my home state. Currently, I’m working with New Hampshire State Representative Lynne Blankenbeker on having a pulse oximetry test (which could help detect signs of CHD in babies and save lives) added to medical screenings of all newborns born in New Hampshire. Parker

    While I’m glad to have the opportunity to be a part of the fight against CHD, I am most thankful for the work and dedication of Dr. Emani, Dr. David Brown and the entire staff at Boston Children's Hospital. They have given my son a chance at life, and I could never fully repay them—I am truly blessed to have Parker and my thanks go out to Boston Children’s for keeping him in my life.

    About Hannah

    Hannah patient HLHS

    Hannah Englert was born with hypoplastic left heart syndrome (HLHS), a rare and serious congenital heart defect. Her parents knew about her condition when Hannah’s mom, Denyse, was pregnant with Hannah, so they arranged to temporarily leave their Louisiana home so Denyse could have the baby at a hospital near Boston Children's Hospital. That way, Hannah could be immediately transferred to Boston Children's for treatment.

    At just two days old, Hannah had her first open heart surgery at Boston Children’s. Over the next few years, the Englerts flew back to Children’s for Hannah’s follow-up surgeries, sometimes staying for weeks or months at a time. Last September, they arrived for her third—and hopefully final—heart surgery. Since the procedure was complex, Hannah has been slow to bounce back, but “her little personality is getting close to what it was at home,” says Denyse.

    Despite the hardships caused by Hannah’s condition and treatment and spending so much time away from their Louisiana home, the Englerts have used Hannah’s health crisis to help others. They’ve partnered with the Louisiana Pediatric Cardiology Foundation to form a support network for parents of children with HLHS. “I want to help as much as I can,” Denyse says.

    The Experience Journal

    Designed by Children’s psychiatrist-in-chief David DeMaso, MD and members of his team, the Experience Journal is an online collection of thoughts, reflections and advice from kids, parents and other caregivers about being overweight.

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