KidsMD Health Topics

Pulmonary Atresia

  • One thing that sets Boston Children's apart is our experience performing catheter-based procedures. This avoids the need to do open heart surgery.

    --Catherine Allan, MD, assistant in Cardiology

    If your infant or child has been diagnosed with pulmonary atresia (PA), an understanding of the condition will help you to cope with this rare and complex congenital (present at birth) heart defect. While very serious, pulmonary atresia is treatable surgically at Boston Children's Hospital, and recent surgical advances have greatly improved your child’s outlook for success.

    pulmonary atresiaIn pulmonary atresia, the pulmonary valve—which is normally located between the right ventricle and the pulmonary artery—is abnormal and doesn’t open. This means that oxygen-poor (blue) blood can’t flow forward from the right ventricle to the lungs to get oxygenated. The failure of the pulmonary valve to develop can also result in a small (or missing) right ventricle that can’t adequately pump blood to the lungs.

    • Pulmonary atresia isn’t just a single defect, but, rather, a cluster of associated defects.
    • PA affects one out of every 10,000 babies.
    • Most babies with PA show symptoms on the day they’re born.
    • Surgery or interventional catheterization is necessary to improve permanent blood flow to the baby’s lungs so that enough oxygen is added to his bloodstream to meet his body’s needs.
    • A series of three staged operations may be performed to re-route blood flow, starting shortly after birth and concluding when a child is a few years old.

    Comparison with normal heart (click images to enlarge)

      

    In a normal heart, oxygen-poor (blue) blood returns to the right atrium from the body, travels to the right ventricle, then is pumped through the pulmonary artery into the lungs, where it receives oxygen. Oxygen-rich (red) blood returns to the left atrium from the lungs, passes into the left ventricle, then is pumped through the aorta out to the body.

    But in PA, the abnormal development of the pulmonary valve prevents oxygen-poor (blue) blood from passing from the right atrium to the right ventricle and on to the lungs as it should. Medical and surgical interventions are required, since oxygen-poor (blue) blood cannot meet the body’s demands, and this situation cannot support life.

    How Boston Children's Hospital approaches pulmonary atresia

    Our team in Boston Children’s Cardiac Surgery Program understands how distressing a diagnosis of a 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 approaching 98 percent—among the highest in the nation among large pediatric cardiac centers.

    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.

    Pulmonary atresia: Reviewed by Catherine Allan, MD
    © Boston Children's Hospital, 2010

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

    What are the forms of pulmonary atresia?

    There are two major variations in pulmonary atresia, usually characterized by the presence or absence of a hole (ventricular septal defect, or VSD) between the right and left ventricles:

    • pulmonary atresia with intact ventricular septum (PA/IVS): If there’s no VSD, the right ventricle receives little blood flow before birth and can become significantly underdeveloped.

      Severe underdevelopment of the right ventricle makes it incapable of performing its role as a pumping chamber. The blood vessels that provide fresh blood to the heart muscle may also develop abnormally.
       
    • pulmonary atresia with ventricular septal defect (PA with VSD): There may be an abnormal opening in the ventricular wall (septum) called a ventricular septal defect (VSD)—that allows blood in the right ventricle a way out to the body. The presence of the VSD may also help the right ventricle maintain size. PA with VSD is related to another condition called tetralogy of Fallot.

    Are there additional defects associated with PA?

    Like many congenital heart conditions, pulmonary atresia isn’t a single defect, but rather a cluster of associated defects. Two additional holes usually close after birth, but are now important as temporary alternative openings for blood flow through the baby’s heart to his body and lungs:

    • A natural opening between the right and left atria, called the foramen ovale, normally shuts at birth, but may stay open in this situation, allowing oxygen-poor (blue) blood to pass from the right atrium to the left atrium, then to the left ventricle, out the aorta, to the body.
       
    • Newborns also have another natural connection between the aorta and the pulmonary artery—called the ductus arteriosus. The ductus arteriosus normally closes within a few hours or days after birth. Medication can help keep this opening open (patent). In PA, a patent ductus arteriosis will allow some blood to pass from the aorta to the pulmonary artery and on through the lungs to pick up oxygen.

    Why is pulmonary atresia a concern?

    Before birth, while the fetus is developing, pulmonary atresia isn’t a problem because the placenta provides oxygen for the baby. But once a baby is born, his lungs must provide the oxygen needed for survival. In children with pulmonary atresia, because there’s no opening on the pulmonary valve, blood cannot to get to the lungs and become oxygenated.

    In PA, the abnormal development of the pulmonary valve prevents oxygen-poor (blue) blood from passing from the right atrium to the right ventricle and on to the lungs for oxygenation as it should. In this situation, blue blood will pass from the right atrium across the foramen ovale to the left atrium and ultimately out to the body, causing the characteristic “blueness” seen in babies with PA.

    This situation is life-threatening, since the body requires oxygenated blood for survival, and oxygen-poor (blue) blood cannot meet the body’s demands.

    What are the signs and symptoms of PA?

    Signs and symptoms of PA are clear shortly after a baby’s birth. The obvious sign of PA is a newborn who becomes cyanotic (blue) in the transitional first day of life, when the maternal source of oxygen (from the placenta) is removed. The degree of cyanosis is related to the presence of other defects that allow blood to mix, including a patent (open) ductus arteriosus.

    Besides cyanosis (“blue baby syndrome”), the most common symptoms of pulmonary atresia are lethargy and pale, cool or clammy skin.

    If your baby’s pediatrician notices any of these symptoms, the doctor may refer you to a pediatric cardiologist (and/or neonatologist) for immediate testing, diagnosis and a determination of treatment.

    How do you diagnose PA?

    Most babies with PA show symptoms on the day they’re born. Others show symptoms in the first few days of life. If your newborn baby was born with a bluish tint to his skin, or if he’s having difficulty breathing, your pediatrician may refer you to a pediatric cardiologist (and/or neonatologist), 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. (PA is sometimes diagnosed before birth by a prenatal ultrasound done by your obstetrician.)

    How do you treat PA/IVS?

    Catheterization

    Treatment of pulmonary atresia with intact ventricular septum depends on the degree of undevelopment of the right ventricle (RV) and associated abnormalities. All babies with PA/IVS undergo cardiac catheterization to further define the heart’s anatomy. Some babies may be candidates for balloon dilation of the pulmonary valve in the catheterization lab.

    Surgery

    In other babies, the RV may be too small, or associated abnormalities may exist that preclude opening the valve in the catheterization lab. Infants with this more severe form of PA/IVS are treated with a series of surgeries 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.

    Your child most likely will be admitted to Boston Children’s cardiac intensive care unit (CICU) once symptoms are noted. Initially, he may be placed on oxygen, and possibly a ventilator, to help his breathing. We may give him IV (intravenous) medications to help his heart and lungs function more efficiently.

    Important aspects of initial treatment—that allow time for the baby to stabilize —include the following:

    • A cardiac catheterization procedure is usually performed to evaluate the defect(s), whether the foramen ovale and/or ductus arteriosus are still open, and the amount of blood that is mixing.
    • An intravenous medication called prostaglandin E1 is given to keep the ductus arteriosus from closing.
    • If the anatomy is favorable, a catheter may be used to open the atretic (unopened) pulmonary valve to allow blood flow to the lungs.

    Ultimately, for patients with a more severe form of PA/IVS, surgery will be necessary to improve permanent blood flow to the lungs. A series of three staged operations—called the Fontan sequence—may be needed, starting shortly after birth and concluding when a child is a few years old. The operations will redirect blood flow to the lungs and body through various surgical connections.

    Will my child be OK after surgical repair for pulmonary atresia?

    The outlook varies from child to child, but open heart surgery at Boston 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 to replace conduits or revise a palliation as your infant grows older. After each procedure, your child will need to be followed by a Children’s pediatric cardiologist, who will make adjustments to medications, assist you with feeding problems, measure oxygen levels, and determine when/if it’s time for another procedure.

    Note: Infants who’ve had initial surgery for a single ventricle defect are typically enrolled in Children’s Home Monitoring Program between the baby’s Stage I and Stage II operations in the Fontan sequence.

    What causes pulmonary atresia?

    The heart starts to form during the first eight weeks of fetal development. In PA, during this development period the pulmonary valve doesn’t develop properly.

    Some congenital heart defects may have a genetic link, either due to a defect in a gene or a chromosome abnormality—causing heart problems to occur more often in certain families. Most often, though, 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 pulmonary atresia and its accompanying defects. Nothing you’ve ingested or have been exposed to environmentally has been definitively be linked to having a baby with PA.

    How common is PA?

    Pulmonary atresia affects one out of every 10,000 babies. While relatively rare, it’s the tenth most common form of congenital heart disease in newborns. It occurs slightly more often in boys than girls.

    Will my baby be OK in the medium- and longer-term?

    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 will have an ongoing relationship with their Boston Children’s cardiologist. We’ll prevent and treat complications, and will advise on daily-life issues, such as exercise and activity levels, nutrition and precautions related to pregnancy.

    Surgical techniques for treating PA and its associated defects are continually being refined, and surgical success rates at Boston Children’s are very high. Nevertheless, your child will need lifelong monitoring and medication, since he may be at some risk for arrhythmias, infections, leaky valves, heart failure or stroke.

    Non-cardiac surgeries and, for females, pregnancy do pose major risks and will require careful evaluation and discussion with a cardiologist.

    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 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.

    FAQ

    Q: What is pulmonary atresia (PA)?

    A:
    The pulmonary valve has three one-way leaflets that allow blood to flow into the pulmonary artery. With pulmonary atresia, abnormal valve development prevents these leaflets from opening; therefore, blood cannot flow forward from the right ventricle to the lungs to get oxygenated.

    Q: Are there different types of pulmonary atresia?

    A:
    The two types of PA are:

    • pulmonary atresia with intact ventricular septum (PA/IVS): If there’s no opening in the ventricular wall (septum)—called a ventricular septal defect or VSD—the right ventricle receives little blood flow before birth and does not develop fully.
       
    • pulmonary atresia with ventricular septal defect (PA with VSD): An abnormal opening in the ventricular wall (septum)—called a ventricular septal defect or VSD—allows blood in the right ventricle a way out. This is a severe form of the defect related to tetralogy of Fallot.

    Q: If my child has PA/IVS, 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. While very serious, pulmonary atresia is treatable surgically, and recent surgical advances have greatly improved your child’s outlook for success.

    Q: How does Boston Children’s treat PA?

    A:
    Initial stabilization of your baby usually happens with medications and catheterizations. In your baby’s first few years, the skilled surgeons at Boston Children’s will usually treat pulmonary atresia with a series of surgeries that 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 PA?

    A:
    Most babies with PA show symptoms on the day they’re born. Others show symptoms in the first few days of life. These include:

    • blue color of the skin, lips and nailbeds (cyanosis, “blue baby”)
    • lethargy
    • pale, cool or clammy skin
    • disinterest in feeding or tiring while feeding

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

    Q: If my child has PA, what should I ask my Boston Children’s doctor?

    A:
    After your child is diagnosed with 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?
    • Are there alternative therapies?
    • Will my child be OK if he has congenital heart disease?
    • Will there be restrictions on my child’s activities?
    • Will there be long-term effects?
    • What can we do at home?

    Q: When is PA usually diagnosed, and how?

    A:
    Most babies with PA show symptoms on the day they’re born. Others show symptoms in the first few days of life. If your newborn baby was born with a bluish tint to his skin, your pediatrician may refer you to a pediatric cardiologist (and/or neonatologist), who will perform a physical examination.

    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. (Some PA may be diagnosed before birth by an ultrasound done by your obstetrician.)

    Q: What should we do at home after PA surgery?

    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

    Your child may need multiple surgeries or catheterizations in his early years. As he recovers and grows, be sure to follow a regular program of well-baby/well-child checkups.

    Q: What is the long-term outlook for PA-affected children?

    A:
    Surgical techniques for PA and its associated defects are continually being refined, and the long-term outlook is continually improving. Nevertheless, your child will need lifelong monitoring and possibly medication, since he may be at some risk for arrhythmias, infections, leaky valves, heart failure or stroke.

    Q: What causes PA?

    A:
    Pulmonary atresia occurs due to the abnormal development of the heart’s pulmonary valve during the first eight weeks of fetal growth. It’s important for parents to understand that you’ve done nothing to cause your baby’s pulmonary atresia and its accompanying defects. Nothing you’ve ingested or have been exposed to environmentally has been definitively linked to having a baby with PA.

    Most often, this heart defect occurs sporadically (by chance), with no clear reason for its development.

    Q: What is Boston Children’s’ experience treating congenital heart defects?

    A:
    Boston 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 among the only major pediatric heart centers in the world performing fetal heart interventions for certain congenital defects.

    Q: What heart research and innovations are coming from Boston Children’s?

    A:
    A significant amount of Boston Children’s groundbreaking cardiac research aims to refine and advance the open heart surgery and catheterization procedures that treat congenital heart defects in newborns and young children—including pulmonary atresia. Boston Children’s Cardiac Surgery Research Laboratory is studying the mechanisms of heart disease and new treatments for children with congenital heart defects.

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

    Causes

    Pulmonary atresia occurs due to the abnormal development of the heart’s pulmonary valve during the first eight weeks of fetal growth. It’s important for parents to understand that you’ve done nothing to cause your baby’s pulmonary atresia and its accompanying defects.

    Some congenital heart defects may have a genetic link, causing heart problems to occur more often in certain families. Most often, though, this heart defect occurs sporadically (by chance), with no clear reason for its development.

    Symptoms

    • blue color of the skin, lips and nailbeds (cyanosis, “blue baby”)
    • lethargy
    • pale, cool or clammy skin
    • disinterest in feeding or tiring while feeding

    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 or seems to tire too easily.

    Questions to ask your doctor

    After your child is diagnosed with 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?
    • Are there alternative therapies?
    • Will my child be OK if he has congenital heart disease?
    • Will there be restrictions on my child’s activities?
    • Will there be long-term effects?
    • 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. In general, if you have a child with a congenital cardiac defect, the chance of other children you may have being born with a defect is about 2 to 3 percent.

    Complications

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

    Long-term outlook

    Surgical techniques for PA and its associated defects are continually being refined, and the long-term outlook is continually improving. Nevertheless, your child will need lifelong monitoring and possibly medication, since he may be at some risk for arrhythmias, infections, leaky valves, 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 could be at some risk for arrhythmias, blood clots, infections, leaky valves, heart failure or stroke. Going forward, your cardiologist will 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 at Boston 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 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

    After surgery, your child’s cardiologist will offer recommendations for 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

    Your child may need multiple surgeries or catheterizations in his early years. As he recovers and grows, be sure to follow a regular program of well-baby/well-child checkups.

    Prevention

    It’s important to understand that as parents, you’ve done nothing to cause PA and its accompanying defects, 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.

    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.
    • atrial septal defect (ASD): a congenital (present at birth) heart defect in which there is an opening in the tissue wall (septum) that divides the two upper chambers of the heart (right and left atria). A patent foramen ovale (PFO) is a type of ASD.
    • 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 the pulmonary artery and aorta. Cardiac catheterization can also be an interventional procedure. For some babies with PA, the pulmonary valve may be dilated in the catheterization lab.
    • 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 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
    • echocardiogram (echo, 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. If your baby has PA, the ultrasound will reveal the absence of a pulmonary valve and an underdeveloped right ventricle. No discomfort is involved. It takes 30-60 minutes. Some younger children may need to be sedated. If, during your pregnancy, a routine prenatal ultrasound or other signs raise your obstetrician’s suspicion of a congenital heart defect in the fetus, a cardiac ultrasound (described in the paragraph above) of the baby in utero will usually be the next step. The cardiac ultrasound—focusing exclusively on the baby’s heart—can usually detect whether a congenital heart defect is present. 
    • 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 years of age usually need anesthesia
    • 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 to measure the amount of oxygen in the blood
  • At Boston Children's Hospital, 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 young 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. Your child’s doctor 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

    Some combination (not necessarily all) of the following medical tests will also used to diagnose PA and its related defects:

    • 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 PA. 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. If your baby has PA, the ultrasound will reveal the absence of a pulmonary valve and an underdeveloped right ventricle. No discomfort is involved. It takes 30-60 minutes. Some younger children may need to be sedated.
    • If, during your pregnancy, a routine prenatal ultrasound or other signs raise your obstetrician’s suspicion of a congenital heart defect in the fetus, a cardiac ultrasound (described in the paragraph above) of the baby in utero will usually be the next step. The cardiac ultrasound—focusing exclusively on the baby’s heart—can usually detect whether a congenital heart defect is present.
    • 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 years of age usually need anesthesia.
    • 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.
    • cardiac catheterization: This invasive procedure 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.
    • pulse oximetry: a non-invasive test to measure the amount of oxygen in the blood
  • 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 pulmonary atresia depend on the extent of the disease and other variables. Most likely, he will be admitted to Boston Children's Hospital's cardiac intensive care unit (CICU). Initially, he may be placed on oxygen or a ventilator to help him breathe, and IV (intravenous) medications may be given to help his heart and lungs function more efficiently.

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

    • medication: Doctors may administer an IV (intravenous) medication (prostaglandin E1)  to keep open 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).
       
    • cardiac catheterization: Prior to the initial PA surgery, or between staged operations (see below), doctors frequently perform a cardiac catheterization procedure:
      • Cardiac catheterization can delineate the heart's anatomy: the size of the right ventricle, pulmonary arteries and associated abnormalities
         
      • The correction of pulmonary atresia depends on the degree of underdevelopment (hypoplasia) of the right ventricle, the tricuspid valve and the blood vessels feeding the heart.
         
    • surgery: If your child remains cyanotic after catheterization treatment, it may be necessary to surgically place:
      • an outflow tract patch (“two ventricle” repair) to enlarge the outflow part of the right ventricle and the valve area

        -or-
         
      • a Blalock-Taussig shunt from a branch off the aorta to the pulmonary arteries

        Most babies can be treated by one of these options. Some children will be candidates to have further treatment a few months or years later, such as the closure of the shunt and the closing of the ASD.
         
      • If pulmonary atresia with an intact ventricular septum (PA/IVS) results in a significantly underdeveloped right ventricle, it's considered a single ventricle defect and is usually treated using the Fontan sequence—a series of three staged operations performed between the first few days or months and the first few years of life.
        • 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
           
        • bi-directional Glenn: The second operation, often performed when a child is between 4 and 12 months old, reduces the left ventricle's workload, and thus the risk of damage, and sets the stage for the Fontan procedure to come.

          The bi-directional Glenn 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 to treat children with a single functioning ventricle, such as in severe forms of PA/IVS.

          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 from the lower body 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). After this operation, all oxygen-poor blood from both the upper and lower body is directed to the lungs, bypassing the heart.
           

    At home: caring for your child after surgery

    Your child may need multiple surgeries or catheterizations in his early years. As he recovers and grows, be sure to follow a regular program of well-baby/well-child checkups.

    After any procedure, your child will need to be followed by a pediatric cardiologist who will:

    • advise you on wound care while your baby is healing
    • adjust your child's medications
    • help you with feeding problems
    • measure his oxygen levels
    • determine if/when it's time for another procedure

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

    • 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 regular program of 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 PA and its associated defects 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, infections, leaky valves, 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 our 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 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 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 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 our 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.

    Boston Children's an interventional catheterization pioneer

    You'll be comforted to know that Boston Children's pioneered interventional catheterization for many congenital heart defects and is a leader in the use of this procedure.

    Boston Children's Cardiac Neurodevelopment Program

    Children who've had surgery for heart disease as infants are at greater risk of neurodevelopmental problems. By school age, they tend to have more academic, behavioral and coordination difficulties than other children. 

    Boston Children's Cardiac Neurodevelopment Program—one of the few in the United States—provides expert screening, evaluation and care for infants, children and teenagers with congenital heart disease who are at risk for neurodevelopmental problems. Care begins soon after your child's first cardiac surgery and continues as your child grows to make sure she's hitting her developmental milestones.

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

    And 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 pulmonary atresia.

    Cardiac surgery research

    Members of 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

    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 cardiac research initiatives and Boston Children’s current projects in cardiology research.

    Innovations: 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 in animals 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.

    cardioport device

    Del Nido’s newly-developed cardioport
    will someday make possible faster, less invasive heart surgery.

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