2 What is a congenital heart defect? A congenital heart defect is an abnormality in any part of the heart that is present at birth. Heart defects originate in the early weeks of pregnancy when the heart is forming.
3 How do heart defects affect a child? Some babies and children with heart defects experience no symptoms. The heart defect may be diagnosed if the health care provider hears an abnormal sound, called a murmur. Children with normal hearts also can have heart murmurs, called innocent or functional murmurs. Other heart defects can be more ominous and cause more clinical signs and symptoms.
4 Certain heart defects can cause congestive heart failure. When the heart can’t pump adequate blood to the lungs or other parts of the body. It can lead to fluid build-up in the heart, lungs and other parts of the body. A child may experience a rapid heartbeat and breathing difficulties, especially during exercise. Infants may experience these difficulties during feeding, sometimes resulting in poor weight gain. Affected infants and children also may have swelling of the legs or abdomen or around the eyes.
5 Certain heart defects can cause cyanosis. This usually appears soon after birth or during infancy and should be evaluated immediately by a health care provider. On occasion, cyanosis may be delayed until later in childhood. Children with cyanosis may tire easily. Symptoms, such as shortness of breath and fainting, often worsen when the child exerts himself. Some youngsters may squat frequently to ease their shortness of breath.
6 What tests are used to diagnose heart defects? Babies and children who are suspected of having a heart defect are usually referred to a pediatric cardiologist who often recommends one or more of the following tests:Chest X-rayElectrocardiogramEchocardiogramSome children with heart disease also may need to undergo a procedure called cardiac catheterization.
7 What causes congenital heart defects? Since the 1990s, they have identified about 10 gene mutations that can cause isolated heart defectsEnvironmental factors can contribute to congenital heart defects such as women who contract rubella and viral infections, such as the flu, exposure to certain industrial chemicals, drinking alcohol or using cocaine in pregnancy may increase the risk of heart defects
8 What causes congenital heart defects? Certain medications increase the risk. These include the acne medication Accutane , Thalidomide, certain anti-seizure medicationsCertain chronic illnesses in the mother, such as diabetes, may contribute to heart defects
9 What causes congenital heart defects? Heart defects can be part of a wider pattern of birth defects. For example, at least 30 percent of children with chromosomal abnormalities, such as Down syndrome and Turner syndrome have heart defectsHeart defects also are common in children with a variety of inherited disorders, including Noonan syndrome , Holt-Oram syndrome (and Alagille syndrome
10 What are some of the most common heart defects, and how are they treated? Patent ductus arteriosus (PDA)Septal defect (ASD, VSD)Coartation of the aortaHeart valve anomaliesTetrology of Fallot (TOF)Transposition of the Great VesselsHypoplastic left heart
11 Patent ductus arteriosus (PDA): Before birth, the ductus arteriosus lets the blood bypass the lungs because the fetus gets its oxygen through the placenta. The ductus normally closes soon after birth so that blood can travel to the lungs and pick up oxygen. If it doesn’t close, the baby may develop heart failure. This problem occurs most frequently in premature babies. Treatment with medicine during the early days of life often can close the ductus. If that doesn't work, surgery is needed.
13 Septal defect:A hole in the septum that divides the right and left sides of the heart. A hole in the septum between the atria is called an atrial septal defect (ASD). A hole between the ventricles is called a ventricular septal defect (VSD). These defects can cause the blood to circulate improperly, so the heart has to work harder. Some ASD’s can be repaired without surgery by inserting a thin, flexible tube into the heart and then releasing a device that plugs the hole (balloon septostomy). A surgeon also can close an ASD or VSD by sewing or patching the hole. Small holes may heal by themselves or not need repair at all.
16 Coarctation of the aorta: Part of the aorta may be too narrow for the blood to flow evenly. A surgeon can cut away the narrow part and sew the open ends together, replace the constricted section with man-made material, or patch it with part of a blood vessel taken from elsewhere in the body. Sometimes, this narrowed area can be widened by inflating a balloon on the tip of a catheter inserted through an artery.
18 Heart valve abnormalities: Some babies are born with heart valves that do not close normally or are narrowed or blocked, so blood can’t flow smoothly. Surgeons usually can repair the valves or replace them with man-made ones. Balloons on catheters also are frequently used to fix faulty valves.
20 Tetralogy of Fallot:This combination of four heart defects (over-riding aorta, pulmonary stenosis, VSD, and right ventricular hypertrophy) keeps some blood from getting to the lungs. As a result, the blood that is pumped to the body may not have enough oxygen. Affected babies have episodes of cyanosis and may grow poorly. This defect is usually surgically repaired in the early months of life.
22 Transposition of the great arteries: Transposition occurs when the positions of the two major arteries leaving the heart are reversed, so that each arises from the wrong pumping chamber. Affected newborns suffer from severe cyanosis due to a lack of oxygen in the blood. Recent surgical advances make it possible to correct this serious defect in the newborn period.
24 Hypoplastic left heart syndrome: This combination of defects results in a left ventricle that is too small to support life. Without treatment, this defect is usually fatal in the first few weeks of life. However, over the last 25 years, survival rates have dramatically improved with new surgical procedures and, less frequently, heart transplants.
26 At what age do children have surgery to repair heart defects? Many children who require surgical repair of heart defects now undergo surgery in the first months of life. Until recently, it was often necessary to make temporary repairs and postpone corrective surgery until later in childhood. Now, early corrective surgery often prevents development of additional complications and allows the child to live a normal life.
27 For additional information on congenital heart defects: National Heart, Lung and Blood InstituteAmerican Heart AssociationCongenital Heart Information NetworkLittle Hearts