Each year in the U.S., approximately 40,000 children are born with congenital heart disease. This means that at birth, the baby has a heart defect caused because the heart or blood vessels near the heart didn’t develop normally while the baby was in the womb. Babies with CHD can have abnormal or absent chambers, holes in the heart, abnormal connections in the heart and abnormalities in the function of the heart.
CHD is the No. 1 birth defect in the U.S.; 1 in 125 babies have a heart defect. It has been shown that the best way to care for babies born with CHD is to detect and start planning treatment while the baby is in utero. At the Children’s Hospital at Montefiore, we do this at the John H. Gutfreund Fetal Heart Program, along with our colleagues in a variety of women’s health and pediatric sub-specialties.
More than 1.3 million Americans currently have some form of congenital heart defect. Here are facts about the condition and how it’s treated:
[See: 10 Lessons From Empowered Patients.]
What Are The Causes of Congenital Heart Disease?
In most cases, there’s no known cause for congenital heart disease, and there’s nothing the parents could have done differently to prevent the heart defect from happening. Heart defects can occur in otherwise healthy children, regardless of socioeconomic status, race or cultural background.
In some cases, it’s thought that genetic factors and certain maternal environmental exposures may result in abnormal growth or formation of the heart early in pregnancy. These include the use of some medications for seizures, acne or bipolar psychiatric disorder, or having rubella (German measles), other viral diseases or maternal conditions such as lupus and diabetes. Alcohol abuse and street drugs have also been associated with heart defects.
Depending on the defect, the chances of a sibling being born with the same or another heart defect are around 4 percent. While this is four times the general population rate of about 1 percent, it’s still a relatively small chance. If you or your partner becomes pregnant again, tell your obstetrician about your other child. Fetal ultrasounds may help detect concerns as early as mid-pregnancy.
Children with genetic syndromes — including Down, DiGeorge, Williams, Alagille and Noonan syndromes — tend to have congenital heart defects as well as defects in other organ systems. In some but not all cases, a gene defect has been identified that causes the syndrome. For example, in Down syndrome there’s an extra chromosome 21 in each cell of the body (trisomy 21).
Is There a Prenatal Test for Congenital Heart Disease?
CHD can be diagnosed before birth by performing a fetal echocardiogram, a detailed ultrasound of your baby’s heart. The fetal echocardiogram can be performed as early as 16 to 18 weeks into pregnancy. A small camera is placed on the pregnant mother’s abdomen, sending out ultrasonic sound waves and creating a moving picture of the different parts of the baby’s heart. This enables the doctor to evaluate the structure and function of the fetal heart.
These tests are ordered when a possible heart defect is seen on a regular ultrasound at the obstetrician’s office. They’re also done if a close relative — mother, father or siblings — has a congenital heart defect or if the mother has an existing health condition, like diabetes. The test may also be ordered if mom is taking medications during pregnancy that might make a heart problem in the fetus more likely.
[See: 10 Concerns Parents Have About Their Kids’ Health.]
How Is Congenital Heart Disease Diagnosed and Treated?
Some congenital heart defects can cause serious symptoms right after birth and require immediate evaluation in the neonatal intensive care unit, while others can present in infancy when parents notice cyanosis — a bluish tint to the skin, fingernails and lips — breathing difficulties, poor feeding, sweating during feeds, poor weight gain and recurrent lung infections. Many may not be detected until much later in childhood or even in adulthood. The child or adolescent usually presents with inability to exercise or play actively.
In the U.S., when babies are more than 24 hours old and before they leave the newborn nursery, they are screened for serious congenital heart defects that can lower oxygen levels. This screen is a simple, painless test using a machine called a pulse oximeter, which uses a sensor on a baby’s skin and estimates how much oxygen is in the baby’s blood. This test can help spot heart problems early on so that they can be treated right away. The screening will find most serious heart defects, but some babies who test normal could still have a problem.
If CHD is suspected, your child’s primary care provider will refer your child to a pediatric cardiologist. The pediatric cardiologist first takes your child’s medical history and performs a physical exam. They may also order an electrocardiogram (called an EKG or ECG) to evaluate the electrical activity of the heart, a chest X-ray or an echocardiogram (ultrasound movie of the heart). Echocardiograms are the primary tool for diagnosing congenital heart defects. These are all painless tests.
Not all children with congenital heart defects require treatment. Some may only need to be observed and visit their cardiologist regularly. In other cases, medical treatment, surgery or cardiac procedures may be needed to reduce the effect of the defect or repair the defect. CHD can result in congestive heart failure, abnormal heart rhythms or pulmonary hypertension — increased pressure in the lungs. Children may need diuretics or “water pills” to treat heart failure, medications to treat abnormal heart rhythms or medications to relax the blood vessels in case of pulmonary hypertension.
Many simple congenital heart defects, such as holes in the heart, abnormal valves and obstructed blood vessels, can be corrected with a single operation in early infancy or childhood. More complex abnormalities, including absent chambers and valves, may require a series of two or three operations beginning in the newborn period and completed at about 3 years of age.
[See: 10 Seemingly Innocent Symptoms You Shouldn’t Ignore.]
What Is the Prognosis of Congenital Heart Disease?
Given the recent advances in diagnosis and treatment, close to half a million children with significant congenital heart defects have survived to adulthood in the past 25 years. Ongoing medical care with regular visits to your pediatric cardiologist and taking medications as prescribed are important.
Some children and teens who have congenital heart defects may need to limit the amount or type of activity they do. Physical activity helps children strengthen their muscles and stay healthy. Ask your child’s doctor how much and what kinds of physical activity are best for your child. Remember to ask the doctor for a note that describes any limits on your child’s physical activities, as some schools and other groups may need this information.
Teams of health care providers work hard to improve quality of life and outcomes for children with heart defects. When identified and treated properly, children with CHD can grow to be accomplished and fulfilled adults.
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What Is Congenital Heart Disease and What Does It Mean For You and Your Family? originally appeared on usnews.com
