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HEART Insight:
doi: 10.1097/01.HEARTI.0000334387.33061.73
Features: Risk Factors/Help For The Littlest Hearts

With Recent Scientific Advances, More Kids Can Live With Congenital Heart Disease

Lippert, Joan

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Congenital heart disease results from a mishap during heart development that occurs soon after conception, often before a woman knows she's pregnant. Sometimes a probable cause can be identified. Any fever-related illness during the first trimester of pregnancy may double a child's risk of being born with a heart defect. Substance abuse, as well as the acne drug retinoic acid and other prescription medications, can also interfere with heart development, as can other congenital (present at birth) conditions that involve genetic defects, such as Down syndrome.

Figure. A TROUPER Ma...
Figure. A TROUPER Ma...
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Most often, there is no clear cause. “When our son, Max, was born with tetralogy of Fallot, the first thing I asked was ‘Why?’” says Susan Vanderpool of Tulsa, OK, who has since become a coordinator for the Tulsa chapter of Mended Little Hearts (see box on page 18). “The doctors assured us there was nothing we could have done differently.”

Each year, some 36,000 babies are born with congenital heart disease — that's nine out of 1,000 births — and have defects ranging from “holes” between chambers of the heart to such severe malformations as missing chambers or valves. The good news is that minor defects rarely cause symptoms and most defects are not fatal.

In the United States, 3,861 people died from congenital heart disease in 2004 (the most recent year for which statistics are available) — a decrease of 25.4 percent, as compared with 1994.

Prenatal ultrasound can sometimes pick up heart defects, or they become evident on their own soon after birth — as did Max's; he had his first operation to correct the defect at nine days of age. “Nobody noticed anything unusual on the two pregnancy ultrasounds, but when Max came out, he was blue and stayed blue,” says Susan. Other symptoms that signal severe congenital heart disease include very low blood pressure, breathing trouble, feeding problems or poor weight gain.

Mild defects, which cause few or no symptoms, are typically diagnosed during a physical exam. Your child's pediatrician may notice signs of a mild defect during a well-baby checkup or routine physical, though sometimes the first evidence is when a child collapses in gym class. Once the defect is identified, the next step is a visit with a children's heart specialist (pediatric cardiologist) and tests to determine whether surgery is necessary.

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Some congenital heart diseases can be successfully treated with medication, while others will require corrective surgery. Thanks to medications (such as prostaglandins, which can keep a patent ductus arteriosus open in a baby with coarctation of the aorta until surgery), advanced imaging techniques, and heart-lung bypass equipment, the risk of death during surgery has dropped from about 30 percent in the 1970s to less than five percent.

“Surgeons can now do complete repairs earlier in life, and that saves lives,” says Harold M. Burkhart, M.D., a pediatric cardiovascular surgeon at the Mayo Clinic in Rochester, MN, where 600 such operations on children or young adults are performed each year.

Figure. Timeline Max...
Figure. Timeline Max...
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In some cases, “earlier in life” means prenatally: In 2001, doctors at Children's Hospital Boston completed the first successful fetal heart surgery in U.S. history. This highly specialized fetal surgery is also performed at a few other institutions, including the University of California, San Francisco's Fetal Treatment Center, the Center for Fetal Diagnosis and Treatment at Children's Hospital of Philadelphia, and the Fetal Center at Texas Children's Hospital in Houston.

Most children with heart defects will need lifelong visits to the cardiologist. That said, virtually all children with mild heart defects or successful repair can lead normal or nearly normal lives. Some children with severe heart defects can have developmental delay or other learning difficulties.

Children who have pacemakers or implantable cardioverter/defibrillators, or those who are on anticoagulants to control blood clotting, may need to avoid strenuous activity. In most cases, however, congenital heart disease need not limit physical activity. A pediatric cardiologist can offer guidance on what's appropriate for a specific child.

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Serious illness often taxes a family's financial resources — and congenital heart disease is no exception. “We have a two-and-a-half million dollar insurance policy, and only $20,000 is left,” says Susan.

At nine days of age, Max had a shunt implanted to improve blood flow; at 10 months, he received a cow vein and valve during open heart surgery. All told, Max has had 11 surgical procedures, including two to correct his heart defect and four angioplasties to widen narrowed areas. Susan anticipates six more open heart surgeries in his future as he outgrows his implants. All of this will completely drain their coverage, and the Vanderpools will then turn to a state program called SoonerCare, a program like Medicare, available only in Oklahoma. All states have programs that can help eligible families who hit limits like these; your doctor can advise you and help you apply.

Learning all you can about your child's heart defect is critical for successful coping, as is getting lots of support, says Susan (see box). The level of care that the highest-need children, like Max, require can be emotionally stressful for parents, and the financial pressures can be crushing. But most children who have congenital heart disease can go on to lead full, productive lives.

“Unlike 25 years ago, we can fix it now,” says Burkhart. “Today we look beyond survival to giving every child a good quality of life, a good brain and a place in society.”

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Three Main Types

Normally, bluish, oxygen-depleted blood returns to the heart after circulating throughout the body. Once inside the heart, the blood moves from the right atrium to the right ventricle and is then pumped into the lungs to pick up oxygen. Red, oxygen-rich blood returns to the left atrium and enters the left ventricle, which pumps it to the body. Most congenital heart defects cause blood to flow through the heart abnormally or obstruct blood flow within the heart or in nearby vessels.

Heart defects can range in severity from small and barely noticeable, to major malformations or narrowings, causing dangerous symptoms. There are at least 15 distinct types of heart defects — and variations of them — but they can be divided into three main categories: septal, cyanotic and obstruction.

SEPTAL DEFECTS. Literally, a hole in the wall that separates the left and right sides of the heart. The hole can be in the wall between the heart's upper chambers (atrial septal defect) or lower chambers (ventricular septal defect). In either case, blood will pass from the left side of the heart to the right side, mixing oxygenated blood from the lungs with spent blood that hasn't yet passed through the lungs.

Roughly 14 to 16 percent of babies who have congenital heart disease are born with a ventricular septal defect (VSD). Blood returning from the lungs enters the left ventricle but some flows to the right ventricle through the hole instead of being pumped into the aorta.

Symptoms/signs. If the opening is small, there will be few or no symptoms. If it is large, symptoms can include slow growth, malnutrition, fatigue, sweating, labored/congested breathing, heart murmur, high blood pressure in the lungs, enlarged heart.

Diagnosis. Physical exam, chest X-ray, electrocardiogram (ECG), echocardiogram, cardiac catheterization, cardiac magnetic resonance imaging (MRI).

Treatment. For a mild defect — the opening is small — no treatment is necessary; sometimes a VSD will close up on its own. Large openings can be closed with open heart surgery. Either way, the child usually does not need to limit physical activity and can expect to have a normal life span.

Other septal defects include:

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Eisenmenger's complex. A VSD with high blood pressure in the lungs.

Atrioventricular canal defect. A large hole in the center of the heart.

CYANOTIC DEFECTS. Blood pumped to the body contains less oxygen than normal, causing a blue discoloration of the skin (hence the term “blue baby”).

Among babies who have congenital heart disease, nine to 14 percent have Max's condition, tetralogy of Fallot. In this condition, there is a large hole between the ventricles (VSD) along with a narrowed or missing pulmonary valve, which restricts blood flow from the heart to the lungs. Also, the right ventricle is more muscular than normal, and the aorta lies directly over the VSD.

Symptoms/signs. In babies, sudden severe cyanosis with rapid breathing and unconsciousness; in older children, shortness of breath, fainting during exercise.

Diagnosis. Physical exam, X-ray, ECG, echocardiogram, cardiac catheterization, and/or cardiac MRI.

Treatment. A temporary shunt can connect the aorta and the pulmonary artery, increasing blood flow to the lungs. Most children have open heart surgery before school age to close the VSD. The outlook varies depending upon how severe the defect was before surgery, but most children can lead healthy lives.

Another common cyanotic defect is transposition of the great arteries, which affects 10 or 11 percent of babies born with congenital heart disease. The pulmonary artery and the aorta are switched, so blood returning from the body is pumped out of the heart without first going to the lungs, and blood returning from the lungs goes right back into the lungs. This is a severe defect and usually fatal, unless another heart defect that partially offsets the cyanosis is also present — for instance, patent ductus arteriosus, in which a hole between the pulmonary artery and aorta allows some oxygen-rich blood to circulate.

Symptoms/signs. Cyanosis, rapid or labored breathing, rapid heartbeat, cool, clammy skin, heart murmur.

Diagnosis. Physical examination, X-ray, ECG, echocardiogram, cardiac catheterization and/or cardiac MRI.

Treatment. Surgery can create a tunnel inside the atria or switch the arteries. A baby will sometimes undergo catheterization to create an atrial septal defect to allow better mixing of the oxygen-rich and oxygen-poor blood and “buy time” until he or she can handle the surgery.

Other cyanotic defects include:

Tricuspid atresia, pulmonary atresia. Critical valves are missing.

Truncus arteriosus. One artery forms both the aorta and pulmonary artery.

OBSTRUCTION DEFECTS. A narrowed vessel that partly or completely blocks the flow of blood in the heart or nearby vessels.

Among the most common obstruction defects is coarctation of the aorta, in which the aorta is pinched or constricted. Of babies with congenital heart disease, eight to 11 percent have this condition. In coarctation of the aorta, blood flow to the lower body is obstructed, increasing blood pressure in the upper body (for example, the arms). Because the heart has to work extra hard to push the blood through the narrowing, the strain can eventually cause heart failure.

Symptoms/signs. In infancy, irritability, pale skin, sweating, heavy and/or rapid breathing, poor feeding, poor weight gain; in older children, high blood pressure, a heart murmur, headaches or lower body cramps.

Diagnosis. Physical exam, X-ray, ECG, echocardiogram, and/or cardiac MRI.

Treatment. A child with a severe coarctation (extreme narrowing, dangerous symptoms) will need surgery to repair the aorta.

Other obstruction defects include:

Hypoplastic left heart syndrome. The left heart is underdeveloped.

Aortic stenosis, pulmonary stenosis. Critical valves are narrowed.

Bicuspid aortic valve. The valve has two flaps instead of the normal three.

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Resources for Parents

American Heart Association: Comprehensive and detailed information on all aspects of congenital heart disease., 800-AHA-USA1 (800-242-8721)

Little Hearts, Inc.: A national nonprofit support group providing networking, medical information and links to other resources., 866-435-HOPE (866-435-4673)

Mended Little Hearts: A national nonprofit support group offering hospital and clinic visiting programs, educational forums, medical information and links to other resources.; 888-HEART99 (888-432-7899)

© 2008 American Heart Association, Inc.