Tetralogy of Fallot (TOF) with Pulmonary Atresia

  • If your infant or child has been diagnosed with tetralogy of Fallot with pulmonary atresia (also known as ToF/PA or tet-atresia), an understanding of the condition will help you to cope with this rare and complex combination of congenital (present at birth) heart defects. While very serious, ToF/PA is treatable through surgery at Children’s Hospital Boston, and recent surgical and imaging advances have greatly improved your child’s outlook for recovery.

    Right ventricular (RV) view of tetralogy of Fallot associated with pulmonary atresia. There is atresia of the right ventricular outflow tract and hypoplasia of the pulmonary arteries (PA). The aortic valve (AoV) is visible through the ventricular septal defect (VSD). The tricuspid valve (TV) is normal. A right aortic (Ao) arch is present in approximately 25% of patients. The proximal segments of two aortopulmonary collateral arteries are shown.
     

    • A severe variant of tetralogy of Fallot, ToF/PA is a combination of cardiac anatomic characteristics:
       
    • ventricular septal defect(VSD—a hole between right and left ventricles)
       
    • overriding aorta(moves toward right side of heart; located just over the ventricular septal defect)
       
    • hypertrophy of the right ventricle(becomes abnormally enlarged because it’s attempting to compensate for the pulmonary obstruction)
       
    • complete pulmonary obstruction(absent pulmonary valve; no connection between the right ventricle and the pulmonary artery)
       
    • abnormal pulmonary arteries. The number, size, and arrangement of pulmonary arteries are extremely variable in this disease and constitute the biggest challenge for therapy: it is necessary to connect multiple pulmonary arteries together (and then to the right ventricle), which is sometimes difficult.
       
    • Shortly after birth, babies usually show the major symptom: cyanosis (bluish tinge to skin), although occasionally this condition becomes apparent only at an older age.
       
    • Surgery to repair the defects is usually done within in the first 6 months of a baby’s life; often more than one operation is needed.
       
    • ToF/PA is always present at birth (congenital). ToF is
       
    • a rare disease that affects about 2 in 10,000 children.
       
    • ToF/PA occurs equally in boys and girls.
       
    • ToF/PA can be associated with cleft lip and palate and other craniofacial abnormalities.

    How Boston Children’s Hospital approaches tetralogy of Fallot with pulmonary atresia

    Our team at Children’s Heart Center understands how distressing a diagnosis of tetralogy of Fallot with pulmonary atresia 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 among the highest in the nation among large pediatric cardiac centers.

    We have found that the following elements provide the best possible outcomes for patients with ToF:

    • accurate diagnosis and assessment: The first major task in treating a patient with this defect is determining the exact arrangement of pulmonary arteries. We utilize the most advanced techniques available for determining the patient’s cardiac and pulmonary arterial anatomy, with interpretation by highly experienced cardiologists.
       
    • close, expert medical follow-up before and after surgical repair. If you live in the Boston area, a Children’s cardiologist will follow your child; if you live in another part of the country, a Children’s cardiologist will work closely with your local cardiologist. Adult patients with tetralogy are followed in our BACH program by Children’s cardiologists who have special training for adults with congenital heart problems.
       
    • the availability of a variety of therapies, depending upon the exact needs of each child. A major challenge for treating ToF/PA is surgically bringing all the pulmonary arteries together so that blood from the right ventricle can be pumped to them; Children’s surgeons have extensive experience in performing this complex surgery. However, sometimes surgery alone is not enough. Many patients also require balloon dilation and stenting of the pulmonary arteries, since the arteries often have areas of narrowing. Children’s brings together cutting-edge imaging techniques and highly experienced surgeons and catheterizers to create a “package” of therapy for even the most complex forms of this defect.
       
    • a highly experienced, skilled team to bring together the many pieces of the therapeutic puzzle: Children’s cardiac surgeons work with highly experienced nurses and doctors who are focused on providing expert care before and after surgery. Children’s Cardiac Intensive Care Unit (CICU) was one of the first such units to be developed anywhere; professionals from many countries visit the CICU to learn advanced techniques of postoperative care.
       
    • Our specialized training in pediatric cardiology means that we understand the unique challenges, circumstances and intricacies of working with young people who have heart conditions. In addition to our medical expertise, we provide patient-centered care that always recognizes your child as an individual—and we offer resources to meet the needs of your entire family.

       

      Tetralogy of Fallot with Pulmonary Atresia: Reviewed by Thomas Kulik, MD

      © Children’s Hospital Boston, 2011

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      In 1938, Children’s cardiac surgeon Robert Gross, MD, performed the world’s first successful surgery to correct a child’s heart defect. Since that time, we have gained recognition around the globe for our leadership in pediatric cardiology, and continue to make critical advances in the field.

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  • It’s natural for you to be concerned right now about your child’s health—a diagnosis of tetralogy of Fallot with pulmonary atresia can be overwhelming. But you may rest assured that at Children’s Hospital Boston, your child is in expert hands. What follows is a brief description of the condition. Your child’s doctors will give you even more thorough information in person.

    What is tetralogy of Fallot with pulmonary atresia?

    Tetralogy of Fallot with pulmonary atresia means that five associated heart abnormalities occur:

    • ventricular septal defect (VSD—a hole between the right and left ventricles)
      • allows blue blood to go from the right ventricle into the aorta, reducing the amount of oxygen in the blood pumped to the body
    • overriding aorta (moves toward right side of heart; located just over the ventricular septal defect)
      • a minor abnormality that is of little surgical or other consequence
    • hypertrophy of the right ventricle (becomes abnormally enlarged because it’s attempting to compensate for the pulmonary obstruction)
      • the right ventricle is thicker than normal, since it has to pump blood at a higher pressure than normal
      • largely resolves after complete repair of the defect
    • complete pulmonary obstruction (no pulmonary valve or connection between the right ventricle and the pulmonary artery)
      • Blood finds its ways to the lungs by either a ductus arteriosus or multiple aortopulmonary collateral arteries (“MAPCAs”—arteries that develop to supply blood to the lungs when native pulmonary circulation is underdeveloped).
    • abnormal pulmonary arteries
      • Some patients have essentially normal pulmonary arteries, but ...
      • Usually there’s a combination of MAPCAs and very small “native” pulmonary arteries.
      • In order to best treat this problem, the MAPCAs and “native” pulmonary arteries are connected surgically, and then connected to the right ventricle.
      • The pattern of MAPCAs, native pulmonary arteries and areas of narrowing in these arteries largely determine the complexity of surgical therapy needed. The number, size, and arrangement of pulmonary arteries are extremely variable in this disease.
      • In many cases, some or all of the pulmonary arteries actually arise from the aorta, rather than the right ventricle; unlike in a normal situation, they are not connected with each other.

    The pulmonary arteries are highly variable from child to child. In some children, they’re essentially normal, except for the fact that they are connected to the aorta (usually by a ductus arteriosus) rather than to the right ventricle.

    In the majority of children, there are multiple arteries that arise from the aorta or its branches, and that go to the lungs (the multiple aortopulmonary collateral arteries, or “MAPCAs,” mentioned above). Many patients with MAPCAs also have something like a normal pulmonary artery, although it’s much smaller than normal and often goes to only some, rather than all, parts of the lung.

    What are the signs and symptoms of ToF/PA?

    Signs and symptoms of ToF/PA usually appear shortly after a baby is born, when the maternal source of oxygen (from the placenta) is removed. The most common sign is cyanosis (blue color to the skin, lips and nail beds) due to large amounts of oxygen-poor (blue) blood flowing to the body.

    How do you diagnose ToF/PA?

    For most patients, doctors use an EKG (electrocardiogram), chest x-ray, cardiac ultrasound (echocardiogram) and cardiac catheterization (sometimes multiple) with angiography to diagnose ToF/PA.

    Your cardiologist will detect a heart murmur and measure blood oxygen levels (non-invasively). The doctor may also order additional diagnostic testing, which could include: cardiac MRI or chest CT scan.

    How do you treat ToF/PA?

    • Surgery is standard of care for ToF/PA, and it’s usually performed within a baby’s first 6 months of life. The surgery brings all the pulmonary arteries together so that a connection can be created between the arteries and the right ventricle.
      • Your child may need more than one operation, sometimes over a period of months or years.
      • It is likely that more than one heart catheterization will be needed.
      • Your child will need close medical follow-up care.

    For details, see the Treatment tab.

    Will my child be OK after surgical repair for ToF/PA?

    The outlook varies from child to child, but open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers.

    Your child may need multiple operations or catheterizations as he grows older. And he will need to be followed by a Children’s pediatric cardiologist, who will determine care going forward.

    What causes ToF/PA?

    The heart starts to form during the first eight weeks of fetal growth. ToF/PA occurs when the heart fails to develop normally during this development period.

    • Most often this heart defect occurs sporadically (by chance), with no clear reason for its development.
    • In some cases, the defect may have a genetic link. One genetic link that has been associated with tetralogy of Fallot/PA is a deletion—or missing piece—of chromosome number 22 (22q11). This is present in a minority of patients but is thought to be more common in those with a severe form of tetralogy of Fallot with pulmonary atresia. The condition is known as the “22q11 deletion,” and blood tests are available to detect it.

    How common is ToF/PA?

    ToF/PA is a variant of ToF, a rare disease that affects about 2 in 10,000 children.

    Will my baby need more care in the medium- and longer-term?

    Yes. Your child may need multiple operations or catheterizations as he grows older.

    • Although the goal of the operation is to repair the defect, some patients will develop sufficient leakage from the pulmonary valve that it requires replacement. This usually occurs in adulthood, although it can occur sooner. Multiple heart catheterizations are often required for enlarging the pulmonary arteries using balloon catheters.
    • Your child will need lifelong monitoring and medication, since he may be at some risk for arrhythmias and other heart problems.
    • Non-cardiac surgeries and, for females, pregnancy may pose special risks and will require careful evaluation and discussion with a cardiologist.

    Our Boston Adult Congenital Heart and Pulmonary Hypertension Service (BACH) can provide your child with any needed care as he reaches and progresses through adulthood.

    Your child’s Children’s cardiologist will help you create a long-term care program as your baby grows into childhood, the teen years and adulthood. We’ll prevent and treat complications and will advise on daily-life issues, exercise and activity levels, nutrition and precautions related to pregnancy.

    FAQ

    Q: What is ToF/PA?
    A:
    A severe variant of tetralogy of Fallot, ToF/PA is a combination of five cardiac anatomic characteristics:

    • ventricular septal defect(VSD—a hole between right and left ventricles)
    • overriding aorta(moves toward right side of heart; located just over the ventricular septal defect)
    • hypertrophy of the right ventricle(becomes abnormally enlarged because it’s attempting to compensate for the pulmonary obstruction)
    • complete pulmonary obstruction(absent pulmonary valve; no connection between the right ventricle and the pulmonary artery)
    • abnormal pulmonary arteries

    Q: If my child has ToF/PA, will he be OK?
    A:
    The outlook varies from child to child, but open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers.

    Your child may need multiple operations or catheterizations as he grows older. And he will need to be closely followed by a Children’s pediatric cardiologist, who will determine care going forward.

    Q: What causes ToF/PA?
    A:
    The heart starts to form during the first eight weeks of fetal development. In ToF, during this development period the heart doesn’t develop properly. It usually occurs sporadically (by chance), with no clear reason for its development.

    Q: If my child has ToF/PA, what should I ask my doctor?
    A:
    Some of the questions you may want to ask include:

    • What tests will you perform to further diagnose my child?
    • What actions might you take after you reach a diagnosis?
    • What are the possible complications from testing and treatment?           
    • Will there be long-term effects or restrictions?
    • Will my child need additional care as he grows?
    • What is your experience treating babies with this condition?
    • What can we do at home?

    Q: How is ToF/PA usually diagnosed?
    A:
    For most patients, doctors use an EKG (electrocardiogram), cardiac ultrasound (echocardiogram) and cardiac catheterization (sometimes multiple) with angiography to diagnose ToF/PA.

    Q: What will happen after surgery for ToF/PA?
    A:
    After ToF/PA repair, the baby will be taken to Children’s Cardiac Intensive Care Unit (CICU), where his vital signs and other factors are very closely monitored. In most cases, the CICU stay is for one or two days, followed by a few days’ recovery on “8E,” the unit where patients with cardiac conditions are followed. Post-operative care varies greatly, based partly on the age of the child.

    When your child is ready to go home, we’ll give you any home-care information that you will need. And after your child’s discharge from Children’s, his cardiologist and pediatrician will provide follow-up monitoring and care.

    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 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.

    Q: What heart research and innovations are coming from Children’s?
    A:
    Children’s is pursuing many areas of research into the cardiovascular system. For example, Children’s was one of a small number of centers to test and first clinically use a new type of valve that can be placed into the heart using a catheter (thus obviating the need to open the chest or do open heart surgery). This valve is very useful for some older patients who’ve developed significant pulmonary regurgitation after repair of ToF/PA.


    Learn more about Children’s cardiac surgery research initiatives and Children’s current projects in cardiology research.

    Q: Where can my child find care and support when he grows up?
    A:
    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 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 (now thought to number as many as one million), their families and the medical community, as well as conducting research and providing advocacy, outreach and education. 

    Causes

    Most often, this heart defect occurs sporadically (by chance), with no clear reason for its development, due to the abnormal development of the heart during the first eight weeks of fetal growth. However, a genetic link has been found in some severe cases.

    Signs and symptoms

    Signs and symptoms of ToF/PA usually appear shortly after a baby is born, when the maternal source of oxygen (from the placenta) is removed. The principal sign is cyanosis (blue color to the skin, lips and nail beds) due to large amounts of oxygen-poor (blue) blood flowing to the body.  Sometimes this condition becomes apparent only at an older age.

    When to seek medical advice

    Most of the time, this defect is detected by your child’s doctor soon after birth. However, call your health care provider immediately if your baby or child has a bluish color, becomes tired with feeding, or has poor weight gain.

    Questions to ask your doctor

    After your child is diagnosed with ToF/PA, you may feel overwhelmed with information. It can be easy to lose track of the questions that occur to you. Lots of parents find it helpful to jot down questions as they arise—that 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?
    • What actions might you take after you reach a diagnosis?
    • What are the possible complications from testing and treatment?           
    • Will there be long-term effects or restrictions?
    • Will my child need additional care as he grows?
    • What is your experience treating babies with this condition?
    • 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. But in ToF, familial cases have been reported, and a genetic link has been confirmed in some cases.

    Parents who have a child with a ToF (or other congenital heart defect) have a slightly greater chance of having a second child with a heart defect, and a fetal ultrasound during the second trimester of pregnancy is recommended.

    Complications

    Children who have surgery to repair ToF/PA generally do very well. But many types of complications can occur, some of which include bleeding, arrhythmias, blood clots, leaky valves, or the need for early catheterization or re-operation.

    Long-term outlook

    While the outlook varies from child to child, open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers, and the long-term outlook for the great majority of children is excellent.

    Your child may need multiple operations or catheterizations as he grows older. And he’ll need to be followed by a Children’s pediatric cardiologist, who will determine care going forward.

    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 possible restrictions on your physical activities, feeling different and assuming a lot of personal responsibility for maintaining your own good health.

    If you feel down or anxious through this important time in your transition to adulthood, speak to your doctor, counselor or parents—they’re all on your team, and they want to help.

    Learn about Children’s many resources for teens, including our Teen Advisory Committee.

    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 could be at some risk for arrhythmias, leaky valves and other heart problems. Going forward, your cardiologist will advise you on activity levels, pregnancy issues and certain lifestyle choices.

    Children’s can help adults with congenital heart defects. Many adults who were patients at Children’s as babies or children continue to be monitored by the clinicians who’ve 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 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.

    Prevention

    Congenital heart defects usually occur sporadically (by chance), with no clear reason for their development. ToF may be prevented if a pregnant woman refrains from alcohol or drug abuse. If you’re taking anti-seizure medicine and are pregnant or planning to become pregnant, consult your doctor, since medications of this kind have been associated with this condition.

    ToF/PA 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.
    • 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 the pulmonary artery and aorta. Certain therapeutic procedures can be performed at cath, e.g., dilating blood vessels to make them larger.
    • 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: a surgical procedure performed on the heart or one of the blood vessels connected to the heart
    • cardiac surgeon: a doctor who performs surgery on the heart. A pediatric cardiac surgeon performs surgery on the hearts of infants and children.
    • cardiologist: a doctor who diagnoses and treats heart problems non-surgically. A pediatric cardiologist treats infants, children and some adults with heart problems.
    • chest CT scan: a non-invasive procedure that uses x-ray equipment and powerful computers to create detailed, cross-sectional images of your child's heart and chest anatomy
    • chest x-ray: a diagnostic tool to evaluate the size and spatial relationships of the heart within the child’s chest
    • 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
    • ductus arteriosus: the prenatal connection between the aorta and the pulmonary artery, which usually closes shortly after birth.
    • 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; 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 ToF/PA.
    • homograft:a specially prepared pulmonary artery taken from a person who has died
    • hypertrophy: abnormal enlargement
    • IV: intravenous, into the vein; one method of delivering medication
    • neonatologist: a doctor who specializes in illnesses affecting newborns, both premature and full-term
    • pericardium: the thin but tough leather-like sac that surrounds the heart
    • 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 atresia: a congenital heart defect in which the pulmonary valve is absent or doesn’t open and oxygen-poor blood can’t get through the pulmonary artery to the lungs to pick up oxygen
    • pulmonary valve: one of the four valves in the heart, between the right ventricle and the pulmonary artery; allows blood to flow one way to the lungs to pick up oxygen
    • pulse oximetry: a non-invasive test to measure the amount of oxygen in the blood
    • sporadic: occurring by chance, occasionally, not inherited
    • 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.
    •  ventricular septal defect (VSD): a congenital (present at birth) heart defect associated with ToF in which there’s an opening in the tissue wall (septum) that divides the two lower chambers of the heart (right and left ventricles)

    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 our cardiovascular Multimedia Library.


  • At Children’s Hospital Boston, we know 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 his skin, or if your child is experiencing symptoms of a congenital heart defect, your pediatrician will refer you to a pediatric cardiologist (and/or neonatologist), who will perform a physical exam. This specialist 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 child’s 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

    Your child’s doctor will also use some combination (not necessarily all) of the following medical tests to diagnose ToF/PA:

    • 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 ToF. 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. 
    • echocardiogram (cardiac ultrasound): 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. No discomfort is involved. It takes 30-60 minutes. Some younger children may need to be sedated. An ultrasound can also detect ToF/PA prenatally.
    • cardiac catheterization: This invasive procedure (a procedure that penetrates the body) performed under sedation or anesthesia 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. Moving pictures are taken of the heart and blood vessels using x-ray dye to further observe their structure.
    • cardiac magnetic resonance imaging (MRI): A cardiac 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. Children under 10 yrs of age usually need anesthesia.
    • chest CT scan: a non-invasive procedure that uses x-ray equipment and powerful computers to create detailed, cross-sectional images of your child's heart and chest anatomy
    • chest x-ray: A conventional chest x-ray will evaluate the size and spatial relationships of the heart within the child’s chest. It takes a few moments. There is no pain or discomfort.
    • pulse oximetry: a non-invasive test (a test that doesn’t require penetrating the body) to measure the amount of oxygen in the blood
  • At Boston Children's Hospital, our Heart Center clinicians will work closely with you to determine the right treatment plan for your child. We consider you an invaluable member of the treatment team, and we always welcome your input and questions.

    Initial approaches

    Having identified your baby's heart condition, we can begin treating him, based on the exact anatomy of your child's heart and other factors.

    The diagnosis of ToF/PA is usually made because of  a heart murmur or decreased oxygen in the blood. In many babies with ToF/PA, no special therapy is required at the time of diagnosis, but plans for follow-up are made at that time.

    Some newborns with a ToF/PA will need to be admitted to Children's cardiac intensive care unit (CICU). In these cases, the baby will usually be placed on oxygen, and sometimes on a ventilator (a machine which breathes for the baby).

    IV (intravenous) medication may be given to help your baby's heart and lungs function more efficiently. An IV medication called prostaglandin E1 is sometimes given to keep the baby's ductus arteriosus from closing. (The ductus arteriosus is 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.)

    Surgery

    • Surgery, usually performed within a baby's first 6 months of life, aims at bringing all the pulmonary arteries together so that a connection can be created between the arteries and the right ventricle.
    • The VSD isn't closed unless and until a sufficient number of the pulmonary arteries can be brought together.
    • A tube—either a homograft (a specially prepared pulmonary artery taken from a person who has died) or one made of cloth—is used to connect the right ventricle with the pulmonary arteries.
    • Balloon dilation of the pulmonary arteries may be needed—a catheter procedure performed in the catheterization lab.

    Your child will get close medical follow-up care from his Children's caregivers.

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

    Surgical techniques for ToF/PA are continually being refined, with the long-term outlook continually improving. Nevertheless, your child will need lifelong monitoring and medication, since he may be at some risk for arrhythmias and other heart problems.

    Some children need multiple surgeries or catheterizations in their early years. As they grow, many children with ToF/PA who've undergone surgical repair will need a pulmonary valve replacement to remedy leakage.

    Children's Cardiac Neurodevelopment Program—one of only a handful in the United States—will screen and care for your child if he's at risk for neurodevelopmental problems. Non-cardiac surgeries and, for females, pregnancy do pose risks and will require careful evaluation and discussion with a cardiologist.

    Your cardiologist will work with you to 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.

    As your baby recovers and grows, be sure to follow a regular program of well-baby/well-child checkups. Encourage your child to live normally. Even if some strenuous physical activities may be limited, your child and your family can enjoy a full life together.

    Coping and support

    At Boston Children's Hospital, 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 our Center for Families for all you need to know about:

    • getting to 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 ToF/PA. 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? We'll also reach out to you by phone, continuing the care and support you received while your child was at Children's.
    • parent-to-parent: Want to talk with someone whose child has been treated for ToF/PA? 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 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 our Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Service. BACH is 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.

    Did you know?

    Boston Children's Hospital: an interventional catheterization pioneer. You'll be comforted to know that Children's pioneered interventional catheterization for many congenital heart defects and is a leader in the use of these procedures.

  •  In 1938, Children’s cardiac surgeon Robert Gross, MD, performed the world’s first successful surgery to correct a child’s heart defect. Since that time, we have gained recognition around the globe for our leadership in pediatric cardiology, and continue to make critical advances in the field. Two examples of our innovative approach are below.

    Problem: Open heart surgery entails time in the hospital, discomfort, and some risk.

    Innovative Solution: The Medtronic Melody Transcatheter Pulmonary Valve is a prosthetic valve that was developed to treat patients with congenital heart disease affecting the function of the pulmonary valve. The valve is implanted through a catheter procedure, rather than a more invasive open-heart surgical procedure. This makes the demands on your child's recovery much easier and far less intensive.

    Cardiologists are Children’s were among the first to use this valve in its early developmental stage, and have extensive experience with it.

    Like other prosthetic valves, the Melody Transcatheter Pulmonary Valve is likely to need replacement several times over the course of a patient's life due to wear and tear. However, since the Melody can be implanted through a catheter, there is minimal risk to the patient compared to valves that can only be implanted surgically.

    Boston Children’s a world leader in pediatric research

    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.


  • From Iceland to Boston

    I'm from Iceland.  I am the mother of a boy, Ásgeir Valur, who  was born with a heart defect called Tetralogy of Fallot. During the pregnancy we also found out he only had one kidney. But luckily, the kidney has never been a problem. It works fine, as it should.  We found about the heart defect when I was 7 months into the pregnancy and it was quite a coincidence that it was discovered then, because it wasn't seen in 20 weeks sonar, nor 25th week sonar (which I had because of the doctor wanted to be sure there was only one kidney there). But I‘m glad it was discovered during the pregnancy because then we had two months to prepare for what was coming. Most parents get the news after their baby is born.

    He was taken with c-section (after his heart rate dropped during birth) the 11th of February and he was taken immediately to the newborn ICU. But I knew that would happen.  His father went with him but I saw him 2 hours later.  He was christened  the day after his birth. When he was two days old he got  a Blaloc-Taussig shunt in Landspitalinn (The hospital of Reykjavik, Iceland) and he spent his first three weeks there. The shunt was successful and we could take him home.  For the next 7 months he got home-nurse vising us three times a week and in July-August (2004) we had a very difficult 6 weeks as he refused to drink anything. He didn't want his milk and the feeding was really a struggle.  But we survived.  I‘m lucky he was my first child as I didn't have any comparison of how it was to have a healthy child.

    In September his cardiologist decided it was time to prepare for the big operation and we had one month to make the passport and everything else ready.  The 29th of September me, my husband and son met the doctor on the airport and took of to Boston. We were lucky as my mother and my mother-in-law had decided to buy their own tickets to Boston to be with us for support. It was good to have their support when we was abroad.  We didn't have to have any financial concerns as the government paid the flight for me, my husband and son, the stay at the hotel and the hospital bill. I don‘t think a can complain about high taxes again!

    The flight took about 6 hours, and my sons sO2 dropped to 62% during the flight. I was a bit worried but then I decided to look more on my child than the machine, because he was happy playing with the oxygen mask!  The trip from the airport to the hospital was the fastest one through airport I've ever had.  We had our passport checked inside the airplane, then a few guards took us the shortest way through the airport straight into an ambulance. We were at the hospital with our son in his hospital bed 45 minutes after the plane landed.  That was fast! We didn't have to wait for our luggage  because we had been told, only to take handbags with us.  I thought it was crazy to go to another country for 2 ½ weeks with only clothes in our handbags, and a lot of the luggage was our son‘s! Toys, clothes, bottles, diapers (for the flight) and all the stuff that baby needs! The most problem was finding the right milk formula he would drink because the one he was used to drink didn't exist in Boston. The painkillers were also different. He had Tylenol at the hospital for painkillers, but we were used to give him Parasupp. There was lot of other little things, like that. Nurses in Iceland tell us not to microwave the milk for babies, but it was the only option to heat the milk at the hospital. But those little things didn't bother us too much, we just learned new ways, and the staff at the hospital was very nice and helpful. We felt like our son was in the best hands.

    We stayed at the hotel across the street so it only took us 2 minutes to get to the hospital. We switch places in spending the night at the hospital with our son. And the whole time he was sleeping by the Icelandic clock, which meant that he thought it was morning at 4:30 a.m.

    The day after we arrived to Boston (the 30th of September) he had catheterization (it‘s very hard for me to remember this word!), which was performed by Dr. Armsby and it was very successful. This was on Thursday and we were lucky that he was allowed to spend the weekend at the hotel. He had a little bit fever, but nothing serious. His father took the most amazing photo of him at the hotel with the hospitalband around his leg.  We call this photo "Go Red Socks" because he looks like a supporter of a team and while we were in Boston Red Socks won the World Series Championship.

    The Tuesday the 5th of October he had the big operation, which was performed by Del Nido.  The operation got delayed by few hours, but we kept in contact with our family and friends through his blog, which we tried to update currently.  However, everybody in Iceland had forgotten to tell his great grandmother that the operation got delayed and she was really really nervous for his behalf.  She though something must have gotten wrong, but that was not the case.  The operation was very successful, even more successful than anybody thought.  His cardiologist had expected that he would have had several surgeries while growing, and few catheterizations but in fact he has only had one catheterization since then and no other surgery. The original plan was to put some Gore-Tex patch inside to widen his pulmonary artery, but luckily the surgeon could use living tissue from my son‘s heart instead! 

    The first time I saw him after the operation, I really didn't notice all the tubes and stuff, what I saw, was his beautiful pink skin.  He had never been so pink before.  Most other people would probably have noticed the  tubes, but I didn't. He was in the heart ICU until Friday, then he was moved into 6 East (which I believe, has moved to the 8th floor by now...  ).  We had still another culture shock on the ICU. In Iceland, you are not allowed to go into the ICU if you are wearing Fleese sweater, and no shoes or other outdoor clothes.  Children (up to 16 years old) where not allowed to visit the newborn ICU in Iceland. My husband brother who was 15 years old when our son was born, was not allowed to see him until he got home from the new born ICU.  Here, we could would in the ICU in our Fleese sweaters, in our outdoor shoes and everything!   We were so surprised by that. But after we got over the culture shock we found out that the staff at the ICU was really nice and they did really care. We felt like our son was in the best hands.

    On 6 East we got a one person room, with our son‘s hospital bed, lazyboy and TV. That was luxury. I don‘t recall of having a one person room in a hospital before.  Usually, you have to share the room with 2-5 persons! But it was good to have this private room, I think we got it because our son was waking up in the middle of the night thinking it was morning (he was the whole time by the Icelandic clock). The first night we had been in a two person‘s room and our son and the other baby kept each other awake.

    In 6 East, we kept getting this good service by the people, and when we noticed that he didn't want to sleep in his bed, we spoke to the nurses, and they agreed with us to leave him always alone in the bed, if they needed to take his blood, or do something (he didn't like), he was always taken into another room, which made the bed his safe place.  I really liked that.  He was also terrified of the X-rays so when he had had X-rays or several blood works done, we used to buy him an ice cream. It worked surprisingly well, because the ice cream seemed to make him forget the pain. (Luckily, they had ice cream in the cafeteria!). He is not afraid of doctors after this stay, in fact, he likes doctors very much.

    We stayed on the Children‘s hospital until the 15th of October (which was Friday). We left the hospital in the afternoon and got to the airport. I think the flight was in the evening, but due to time difference, we landed in Iceland early Saturday morning.  The grandmothers had left two days earlier (which was our original departure date, but the departure was delayed by two days, because our son had a little fluid around his heart, but when we left we got Lasix with our which he had to take for a week or so), so when we came home, they were waiting at our home with breakfast ready for us. That was nice.

    It is difficult to have ones child in a hospital and even more difficult to have the child in a hospital in another country, but the doctors, the nurses and all the other staff, made our stay as pleasant as possible.  I really want to return to Boston someday, and then go there as a tourist, and I hope I can take my son to visit Children‘s hospital, so I can show him the place, he had his life changing surgery. 

    He is now 6 years old, he is very happy boy having a totally different life, than expected.  He practices swimming three times a week, he takes dancing lessons and plays piano.  Just the things you expect a normal child to do. His scar is almost invisible, so he doesn't have to worry about people staring at him when he goes swimming.

    --- S. Andrea Ásgeirsdóttir

     


    Heart2Heart: A legacy of mentoring

    Alexa Horwitz and Eliot Greene have a lot in common. They’re both high school honor students. Eliot is his class president at Belmont Hill School, while Alexa is editor-in-chief of the school newspaper at Buckingham Browne & Nichols. Both are varsity athletes, even participating in similar sports—tennis for Alexa and squash for Eliot. They’re friendly, engaging and quick with a smile. And they’ve both undergone multiple open-heart surgeries at Children’s Hospital Boston, making them perfect candidates to pilot the Heart2Heart at Children’s Teen Mentoring Program.

    The program—currently available in Cardiology—matches high school or college students who were born with heart defects with patients currently being treated at Children’s. It’s the first program of its kind involving face-to-face mentoring with both patients and parents. “The questions they have are the same questions we had,” says Alexa. “It’s easier to talk to someone who knows firsthand what you’re going through.”

    That was the case 17 years ago when Alexa’s mother, Kasey Kaufman, learned that Alexa—still in utero—had an atrial septal defect (ASD), a congenital heart condition that occurs when there’s a hole in the wall between the upper chambers of the heart. “On the spectrum of heart defects, ASD is pretty fixable,” says Kaufman. “At the time though, it seemed so overwhelming.” Jane Newburger, MD, MPH, Children’s associate cardiologist-in-chief—and Alexa’s doctor—suggested that Kaufman reach out to Leslee Greene, whose son Eliot, had recently gone through a similar operation.

    Eliot was born with Tetralogy of Fallot, a condition involving four different congenital heart defects, which were repaired by Children’s John Mayer, Jr, MD—the same surgeon who would replace Eliot’s pulmonary valve 16 years later. “I called Leslee, and I just sobbed to her over the phone,” says Kaufman. “She was so incredibly kind. Just talking to her gave me back my hope and strength.”

    Alexa’s ASD was repaired at 15 months, but when she was in fifth grade, a second surgery was needed to repair a moderate leak in her mitral valve. Children’s Gerald Marx, MD, was able to pinpoint the exact location of the leak using echocardiography, allowing Cardiologist-in-Chief Pedro del Nido, MD, to repair it without replacing the valve. While Alexa was in the hospital, family friend Cheryl Toole, MSN, RN, nurse manager in the Children’s NICU, visited Kaufman regularly. Toole’s daughter, Avery, had recently been born with critical congenital heart disease. A few years later, the roles were reversed with Kaufman and Alexa visiting with the Tooles' while Avery was awaiting a transplant. After one of these visits, Alexa commented to her mother about how good it felt to spend time with Avery, because she remembered what it had been like waiting for her own surgery. She went home, sat down at her computer and typed up the proposal for Heart2Heart at Children’s.

    Alexa sent the proposal to Newburger, and to Sara Conahan, director of Development for the Children’s Hospital Trust, who had enlisted Alexa to speak at the Women in Medicine Luncheon a few years earlier. After a few trips back to the drawing board, a formal steering committee was formed in October 2010, consisting of Newburger, Conahan, Sue Reidy, MS, RN, from Nursing, Beth Donegan-Driscoll, MS, CCLS, director of Child Life Services, and Christine Rich, RN, MS, a nurse with the Center for Families.

    With the program close to becoming a reality, Alexa knew it was more than she could handle on her own. She and Eliot had been crossing paths their entire lives, completely unaware of the support that Eliot’s mother had offered to Alexa’s mom 17 years earlier. They went to the same schools and even lived within blocks of each other until Alexa was 5, but since Eliot was a year older, they didn’t really know much about each other outside of their shared history of heart surgery. “One night, I got a Facebook message from Eliot, saying ‘Hey, we should volunteer at the hospital,’ ” says Alexa. “I sent a message back, saying, ‘funny you should mention it…’ ”

    With Rich on board as coordinator, Heart2Heart at Children’s entered its pilot stage with Alexa and Eliot as its first two teen mentors. Before they could meet directly with patients, both teens—and both moms—went through weeks of training on hospital policies and procedures, as well as a period shadowing Child Life to see how they interact with patients.

    The first time Alexa or Eliot meet with a patient, a representative from Child Life sticks around to ease the transition. After that, if the patient’s family approves, they’re on their own, providing a confidant who knows exactly what the patients are going through, and answering questions kids may not feel comfortable asking their parents or clinicians. “A lot of kids want to know if it hurts when they take tubes out of your throat after surgery,” says Eliot. “When I say ‘I really don’t remember, so it can’t be that bad,’ they know I’m speaking from experience.” One patient was so appreciative of the time Eliot spent with him that he named his stuffed wolf after him. Another told his parents, “I want to do what Eliot does when I grow up.”

    Alexa and Eliot have mentored patients as young as four years old. “The experience can actually be less intense with younger patients,” says Alexa. “They’re less likely to ask really tough questions than someone who’s older.” Some patients simply want to spend time with someone close to their own age, like the 14-year-old who told Alexa that the rainy afternoon they spent watching Avatar was the best part of his hospital stay.

    With Heart2Heart at Children’s proving to be a success in Cardiology, Alexa and Eliot have already drafted a proposal to expand the program. Just as their mothers passed a legacy of mentoring on to them, Alexa and Eliot are working with the steering committee on plans to begin recruitment and training of additional teen mentors this summer. “This program’s all about creating connections,” says Alexa. “I’d love to see it expand formally to other departments. Even more, I’d love to see it expand to other hospitals.” 

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