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Atrioventricular Canal Defect

  • If your infant or child has been diagnosed with atrioventricular canal defect (AV canal), an understanding of the condition will help you to cope with this unusual but treatable  congenital (present at birth) heart defect.

    A complete atrioventricular canal defect is actually a combination of several closely associated heart problems that result in a large defect in the center of the heart:

    • Defects include holes such as atrial septal defect (ASD) and  ventricular septal defect (VSD), and abnormalities of the atrioventricular valves (usually mitral and tricuspid).
    • Blood can move freely among the four heart chambers, mixing oxygen-rich (red) blood with oxygen-poor (blue) blood.
    • AV canal occurs in two out of 10,000 births.
    • The condition is common in children with    Down syndrome (about 20%).
    • Surgery in the first six months of life is often necessary to correct the defects.
    • After surgery, most children lead healthy lives but will need lifelong follow-up care.
    • A small proportion (~10%) will need additional surgery later in life

    Comparison with normal heart

    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. And 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.

    AVC Heart

    A cluster of defects

    Like many congenital heart conditions, atrioventricular canal defect isn’t actually a single defect, but rather a group or cluster of closely associated defects in various combinations and with varying degrees of severity:

    • atrial septal defect (ASD)
      • The wall of tissue (septum) that separates the two upper heart chambers (left and right atria) has a hole.
      • The defect allows oxygen-rich (red) blood to pass from the left atrium through the hole, and then mix with oxygen-poor (blue) blood in the right atrium.
    • ventricular septal defect (VSD)
      • The wall of muscle tissue (septum) that separates the two lower chambers of the heart (left and right ventricles) has a hole.
      • The defect allows oxygen-rich (red) blood to pass from the left ventricle through the opening, and then mix with oxygen-poor (blue) blood in the right ventricle.
    • abnormalities of the atrioventricular (AV) valves (mitral and tricuspid)
      • The valves that separate the upper heart chambers (atria) from the lower chambers (ventricles) are abnormally formed. Often this results in one large “common” valve rather than two separate valves.

    This cluster of defects can result in what is essentially a common AV valve that sits between the four heart chambers, with holes above and below the valve. This allows blood to pass between the chambers above and below the valve. Blood moves freely among the four heart chambers, mixing oxygen-rich and oxygen-poor blood, and typically results in more blood flow than normal to flow from the heart to the lungs. This extra blood flow to the lungs is often responsible for many of the symptoms seen in such children.

    How Boston Children's Hospital approaches AV canal

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

    In particular, the methods used to repair AV canal have improved greatly in the past two decades, and the operation has a high likelihood of success.

    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.

    Atrioventricular canal defect: Reviewed by David Brown, MD
    © Boston Children's Hospital, 2010

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

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

    What is atrioventricular canal defect?

    Atrioventricular canal defect (AV canal or AVC) is a combination of several heart problems that result in a large defect in the center of the heart. The condition is congenital, which means it is present at birth.

    The combination of defects includes:

    • atrial septal defect (ASD)
      • wall of tissue (atrial septum) that separates the upper heart chambers (atria) has a hole
      • allows oxygen-rich (red) blood to pass from the left atrium through the opening, and then mix with oxygen-poor (blue) blood in the right atrium
    • ventricular septal defect (VSD)
      • wall of muscle tissue (ventricular septum) that separates the lower chambers of the heart (ventricles) has a hole
      • allows oxygen-rich (red) blood to pass from the left ventricle through the opening, and then mix with oxygen-poor (blue) blood in the right ventricle
    • abnormalities of the atrioventricular (AV) mitral and tricuspid valves
      • These AV valve defects range from a simple gap or “cleft” in one of the mitral leaflets, to a single large “common” AV valve instead of two separate valves.
      • These “common” AV valves can sometimes be leaky (or regurgitant), allowing blood to flow backwards into the atrium when the heart beats instead of being pumped forward out of the heart. This makes the heart less efficient at pumping and can result in more symptoms. 

    Why is atrioventricular canal defect a concern? What are its effects?

    If it’s not treated, AV canal can cause many problems involving the heart and lungs. When there are holes in the heart, blood flow follows the path of least resistance, which usually means that excess blood flows to the right side of the heart and out the pulmonary artery to the lungs. In those with atrioventricular canal defect, the extra volume of blood handled by the right side of the heart and the lungs can be quite significant, sometimes as much as three times the normal amount. normal heart

    This extra blood flow through the lung blood vessels often results in higher blood pressure in the lungs and the right side of the heart. Over time, the increased flow of blood and the higher pressure can lead to pathologic changes in the lung blood vessels. Over the long term, these changes in the lung blood vessels can become difficult to treat and irreversible.

    AC DefectAs the heart is pumping more blood than normal to the lungs, this adds to the amount of work the right ventricle and the heart as a whole have to do. The heart can become larger or dilated over time, and more muscular than normal. Sometimes as the heart becomes larger, the atrioventricular valve becomes more leaky, which makes the heart less efficient.

    Because blood is pumped at high pressure through the septal openings, the lining of the right and left ventricles can become irritated and inflamed. Bacteria in the bloodstream will sometimes infect this injured area, causing a serious illness known as bacterial endocarditis.

    Is atrioventricular canal defect genetic?

    Genetics may play an important role in the development of atrioventricular canal defect.

    • The majority of cases have associated genetic syndromes.
    • AV canal affects about 15 to 20 percent of children with Down syndrome.
    • The condition affects about 45 percent of children with Down syndrome who have a heart defect.
    • About one-third of children born with AV canal also have Down syndrome.
    • Fourteen percent of mothers with an AV canal defect give birth to a child with the disease.

    Will my child be OK? Will there be complications?

    Open heart surgery at Children’s has among the highest success rates in the United States among large pediatric cardiac centers. In particular, the methods used to repair AV canal have improved greatly in the past two decades, and the operation has a high likelihood of success.

    Complications after surgery are not common, but may include the following:

    • Residual septal defects can occur, although often these are inconsequential.
    • The AV valves, both tricuspid and mitral, can remain leaky, or sometimes the valve openings are narrow (stenotic).
    • The exit or outflow from the left ventricle may become narrow.
    • Abnormally high pulmonary vascular resistance that was present before surgery may still be elevated, and some may have higher than normal blood pressure in the lungs.
    • The heart’s electrical system may have problems.

    What about later in life?

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

    Surgical techniques for AV canal and its associated defects are continually being refined, and long-term outcomes are continually improving. Nevertheless, patients will need lifelong monitoring and medication, since they’ll always be at some risk for arrhythmias, infections, leaky valves, heart failure or stroke.

    A small minority of patients (~10%) will need repeat surgery at some point in later childhood or as an adult, most commonly to address residual mitral valve problems.

    How common or rare is AV canal?

    Atrioventricular canal defect occurs in two out of every 10,000 live births, equally in boys and girls.

    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 (thought at this time to be as many as one million), their families and the medical community, as well as conducting research and providing advocacy, outreach and education.

    Causes

    It’s important for parents to know that nothing you’ve ingested—and no virus you’ve had—is responsible for your child’s AV canal.

    Genetics may play an important role in the development of atrioventricular canal defect. And some studies have investigated a possible link between the use of retinoic acid (for the treatment of acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus.

    The structural cause of AV canal is as follows: When the heart is forming during the first eight weeks of fetal development, it begins as a hollow tube. Over time, partitions that form within the tube eventually become the walls dividing the right side of the heart from the left.

    Atrial and ventricular septal defects occur when the partitioning process doesn’t occur completely, leaving openings in the atrial and ventricular walls (septa). The valves that separate the upper and lower heart chambers are formed toward the end of this eight-week period, and often they don’t develop properly. Frequently, instead of two separate AV valves (tricuspid and mitral valve), there is a single large common valve that sits between the upper and lower chambers of the heart.

    Signs and symptoms

    • disinterest in feeding, or tiring while feeding
    • poor weight gain
    • fatigue
    • sweating
    • pale skin
    • cool skin
    • rapid breathing
    • heavy breathing
    • rapid heart rate
    • congested breathing
    • blue color
    • heart murmur (detected by doctor)

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

    When to seek medical advice

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

    Who’s at risk

    Genetics may play an important role in the development of atrioventricular canal defect.

    • The majority of cases have associated genetic syndromes.
    • AV canal affects about 15 to 20 percent of children with Down syndrome.
    • The condition affects about 45 percent of children with Down syndrome who have a heart defect.
    • About one-third of children born with AV canal also have Down syndrome.
    • Fourteen percent of mothers with an AV canal defect give birth to a child with the disease.

    Some studies have investigated a possible link between the use of retinoic acid (a medication used for the treatment of dermatologic problems such as acne and facial wrinkles) while pregnant and the development of atrioventricular canal in the fetus.

    Long-term outlook

    Surgical techniques for AV canal and its associated defects are continually being refined, and long-term outcomes are continually improving. Nevertheless, patients will need lifelong monitoring and medication, since they will always be at some risk for arrhythmias, blood clots, infections, leaky valves, heart failure or stroke.

    For teens

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

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

    For adults

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

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

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

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

    BACH is an international center for excellence, with physicians and services from 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 your child’s surgery

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

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

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

    AV canal 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 that is usually present in children with AV canal, in which there is an opening in the tissue wall (septum) that divides the two upper chambers of the heart (right and left atria)
    • (complete) atrioventricular canal defect (AV canal or AVC): a combination of several heart problems that result in a large defect in the center of the heart involving both atrial and ventricular septal defects and affecting the atrioventricular valves. AV canal must be repaired surgically.
    • 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/cardio-: pertaining to the heart
    • cardiac magnetic resonance imaging (MRI): a non-invasive diagnostic tool using 3-D imaging technology produced by magnets to accurately determine the blood flow and functioning of your child's heart
    • cardiac surgery: surgical procedure performed on the heart or one of the blood vessels connected to the heart
    • cardiac surgeon: doctor who performs surgery on the heart. A pediatric cardiac surgeon performs surgery on the hearts of infants and children.
    • cardiologist: doctor who diagnoses and treats heart problems non-surgically. A pediatric cardiologist treats infants, children and some adults with heart problems.
    • chest x-ray: a diagnostic tool chest to evaluate the size and spatial relationships of the heart within the child’s chest, as well as the presence of AV canal and its associated defects
    • cyanosis (cyanotic): blue color of skin, lips and nailbeds caused by a reduction in the amount of oxygen-rich (red) blood circulating in baby’s bloodstream
    • congenital heart defect: heart defect present at birth. The heart usually starts to form in the first eight weeks of fetal development. It is thought that most congenital heart defects develop during this period.
    • diagnosis: medical determination of illness or disease based on history, physical examination
  • At Boston Children’s Hospital, we know that the first step in treating your child is forming an accurate, complete and timely diagnosis.

    Exams

    If your newborn is exhibiting signs and symptoms that suggest a congenital heart defect, your pediatrician will refer you to a pediatric cardiologist, who will perform a physical examination. Your cardiologist will listen to your baby’s heart and lungs, measure the oxygen level in his blood (non-invasively) and make other observations that help to determine the diagnosis.

    Your cardiologist will also investigate whether your baby 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.

    Tests

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

    • electrocardiogram (EKG): An EKG is used to evaluate the electrical activity and rhythm of your child’s heart. An EKG is usually the initial test for evaluating the causes of symptoms and detecting heart abnormalities, including AV canal. The test 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.
       
    • 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.
       
    • 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.

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

    • cardiac magnetic resonance imaging (cardiac MRI): An MRI is a non-invasive test using 3-D imaging technology produced by magnets to accurately determine the size of the heart chambers, arteries and veins in the chest, as well as 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.
    • cardiac catheterization: This invasive test performed under sedation provides detailed visual information and measurements about the structures inside the heart. Blood pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta.
  • At Boston Children's Hospital, once we've 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 atrioventricular canal defect depend on the extent of the disease—which can range from a single defect to a full combination of defects (complete). AV canal is almost always treated by surgical repair of the defects. Medications may be helpful and improve symptoms until the operation is performed.

    Age for surgery

    Most children undergo surgery by the age of three to six months. Children with Down syndrome may develop symptoms earlier than other children, and may need to have surgery at an earlier age.

    Treatments

    Treatments may include:

    • medical management
      • Infants may become tired when feeding, and may not be able to eat enough to gain weight. Nutritional support from more concentrated breast milk or formula gives the baby more calories or other forms of nutritional assistance
      • diuretics, such as Lasix, helps the kidneys remove excess fluid from the lungs and body
      • ACE (angiotensin-converting enzyme) inhibitors, such as Captopril or Enalapril, help the heart pump blood forward into the body
      • digoxin helps strengthen the heart muscle, enabling it to pump more efficiently
    • surgical procedure
      • The atrioventricular valves (tricuspid and mitral valves) are repaired to create two separate functioning valves, one for each side of the heart.
      • The ASD and VSD are closed with patches over the holes.
      • A heart-lung bypass machine will do the work of the heart and lungs during surgery.

    The methods used to repair AV canal have improved greatly in the past two decades, and the operation has a high likelihood of success.

     

    At home: caring for your child after surgery for AV canal 

    After your baby's operation and hospital stay (usually five to seven days), he'll need to be followed by a pediatric cardiologist, who will offer recommendations for post-operative follow-up care, including:

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

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

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

    Many children who've had an AV canal repair will live healthy lives. Activity levels, appetite and growth typically return to normal in most children. Some children will still have some degree of mitral or tricuspid valve abnormality or leakage after surgery, which may require another operation in the future. AV canal patients will need lifelong monitoring (some will need medication), since they will always be at some risk for arrhythmias, infections, heart failure or stroke.

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

    Children with Down syndrome will benefit from special programs that not only enhance mental and physical development, but that also understand the implications of the heart issues that Down syndrome children often cope with. Your child's doctor can help you locate such programs in your community.

    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 AV canal. How will it affect my child long term? What do we do next? We can connect you with a number of resources to help you and your family through this difficult time, including:

    • patient education: From the office visit to pre-op to the recovery room, our nurses will be on hand to walk you through your child's treatment and help answer any questions you may have—How long will I be separated from my child during surgery? What will the operating room be like? They'll also reach out to you by phone, continuing the care and support you received while at Children's.
       
    • parent-to-parent: Want to talk with someone whose child has been treated for AV canal? 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 professionals have helped many families in your situation. We can offer counseling and assistance with issues such as coping with your child's diagnosis, stresses relating to coping with illness and dealing with financial difficulties.
       
    • As your child reaches adulthood, you'll want him to know about the Boston Adult Congenital Heart (BACH) and Pulmonary Hypertension Service. 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.
  • Pediatric cardiologists and pediatric cardiovascular surgeons at Boston Children's Hospital have pioneered the interventional catheterization repair techniques now used widely for many congenital heart defects.

    Much of our groundbreaking cardiac research aims to refine and advance the open heart surgery and catheterization procedures that correct congenital heart defects in infants and children—including atrioventricular canal defect.

    Cardiac surgery research

    Members of the Boston Children’s Cardiac Surgery Research Laboratory—a multidisciplinary team of basic and applied research investigators who 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

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

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

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