Heart problems are the most common type of major birth defect and a leading cause of infant death, according to the Centers for Disease Control and Prevention. In the United States, a child with a heart defect is born every 10 minutes. Given these statistics, many parents may wonder: How do I know if my baby has one?
Like snowflakes, no two hearts with defects are exactly alike. However, there are roughly 40 different types of congenital heart diseases. The most common are simple defects affecting the muscles separating the chambers (for example, atrial septal defects and ventricular septal defects), or the valves (for example, pulmonary valve stenosis and mitral stenosis). Rarer, more complex defects include hypoplastic left heart syndrome (where the heart's main pumping chamber is absent) and heterotaxy syndrome (where the heart is pretzeled bizarrely, and the liver and stomach are backwards).
The good news is that we are now better than ever at catching them early. In some cases, a heart defect can be detected during pregnancy by prenatal ultrasounds. These tests are usually done about 4 months into a pregnancy, and allow doctors to see a fetus's heart and check for problems. In addition, beginning in 2011, hospitals have been told to check all newborns for critical heart defects before they leave for home through a painless method called pulse oximetry, where a special clip is placed on the hand and foot to measure oxygen levels. (Several states have already passed laws mandating the test.) Detecting major defects early is important, because babies with even critical heart defects can look normal but become critically ill and even die suddenly at home later if they aren't treated.
Though doctors have made great progress, these tests are not perfect. Though it's rare, some babies with heart problems might fall through the cracks. So parents should know the signs of hidden heart problems in infants and know when to seek help.
A heart murmur is a "whoosh" sound heard with a stethoscope. Many times murmurs are just the sound of normal blood flow, but if the pitch or intensity of the sounds is out of the ordinary, a doctor may suspect a heart defect. I like to compare a murmur to the rushing sound of water as it comes out a faucet. You can hear the hissing noise of water when the faucet is turned on. This is normal flow. If you cover the faucet nozzle with your finger, the water shoots out -- just like a valve blockage would occur in a heart -- and you'd easily hear how the pitch of the water flow is abnormal. This is the kind of difference in sounds a pediatrician might hear with a stethoscope that could indicate a heart problem, which can be confirmed by an ultrasound test.
Some heart defects place a lot of strain on the heart, causing it to beat much faster or harder than normal in order to pump enough blood around a baby's body. In those cases, babies need a huge number of calories just to keep the heart pumping. It's as though a baby was running on a treadmill continuously, during all her waking and sleeping hours. As a result, infants might either eat voraciously or lack the energy to eat, sweat constantly like they're working out, and not gain any weight. In these situations, an ultrasound of the heart can reveal the problem. Generally, most babies who have these problems also have an abnormal heart murmur, so pediatricians often can suspect them earlier during regular checkups, but every now and then there's no obvious murmur.
Many infants have mild coughs and congestion. Sometimes, though, babies can develop serious trouble breathing, and even turn blue from lack of oxygen. Obviously this requires a trip to an emergency room. These symptoms can often be caused by a serious infection that needs prompt antibiotic treatment. However -- as I've seen several times in our hospital -- a serious heart defect is responsible for the breathing difficulties.
All babies occasionally spit up or gag during feeds. But if the problem occurs again and again over time, let your doctor know so he can check for reflux, food allergies, and other problems. Surprisingly, sometimes there is actually a heart problem: The blood vessels coming from the heart are tangled and wrap around the breathing tube (trachea) or feeding tube (esophagus). Called a vascular ring, these heart defects squeeze and constrict those areas, causing breathing or feeding trouble.
In the end, keep in mind that most babies have a perfectly normal heart. But if any of these symptoms occur, at least you'll be armed with the right knowledge to help your child.
Dr. Sanghavi is chief of the division of pediatric cardiology and associate professor of pediatrics at University of Massachusetts Medical School.
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