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The term ‘birth defect’ commonly brings to mind physical difference – such as a cleft lip or club foot. Yet, the most common type of birth defect is one that you cannot see: congenital heart disease.
Congenital heart disease (CHD) describes a number of different conditions that develop during pregnancy and can affect the structure and functioning of a baby’s heart. If recognized early, even before birth, and followed as a child grows, then CHD can often be managed and treated successfully, says cardiologist and assistant professor of medicine Harsimran Singh, MD. “Pregnant women should see an obstetrician who performs the kind of screening that can detect CHD and trigger further evaluations,” Dr. Singh says. “When a baby is born, it is important to have the appropriate monitoring and interventions available, in case they have CHD,” he adds. As children with CHD grow, they should be followed by a pediatric cardiologist who recognizes heart valve or muscle issues that have been present since birth. “It is important for adult patients who have a diagnosis of CHD to see someone who specializes in pediatric congenital heart disease and get appropriate primary care throughout their life,” he says.
CHD can range from simple (a small hole in the heart) to complex (such as missing or poorly formed parts of the heart). In certain complex types of CHD, the chambers or valves of a baby’s heart may develop improperly; in other types, veins or arteries may connect to wrong sides of heart, causing the blood that flows to and from it to mix in unusual ways. “Such major abnormalities are usually apparent at birth and often before birth,” Dr. Singh says. In some instances, doctors can repair them prenatally.
Not all types of CHD are obvious when a baby is born and become apparent only as a child grows. “Certain things are more subtle, like smaller defects that aren’t diseases yet but might become diseases later in life,” Dr. Singh says. For example, he explains, “Atrial septal defect, which causes the blood to flow backward, is fairly common, and over the years can create symptoms such as shortness of breath with exertion, heart palpitations or oxygen issues,” he says. “Many people won’t experience these symptoms until the third or fourth decade of life.”
Doctors do not know what causes most CHD. Although some types run in families, others may stem from a combination of factors, such as toxic environmental exposures, or a mother’s health, including her diet, medication use during pregnancy, or smoking.
If doctors think a fetus may have CHD, then they will conduct a fetal echocardiogram, an ultrasound that takes pictures of the heart to determine if further testing is necessary. Yet, doctors don’t routinely conduct this or other types of testing unless they have a reason to suspect CHD, Dr. Singh stresses.
Because CHD is so common, doctors routinely conduct a cardiac exam on newborns, which entails checking for a heart murmur, as well as blood pressure, blood oxygen levels, and pulse. “While congenital heart disease is common, what matters is how a baby looks, is growing, feeding, and responding to the environment,” Dr. Singh says.
Treatment for CHD depends on its type and complexity. Some cases respond to medicine. Others require one or more surgeries to repair the heart or blood vessels, or catheter interventions and ongoing care. Sometimes, a procedure called a cardiac catheterization can improve the heart’s ability to function with a defect that is not completely reparable. Occasionally, children may ‘outgrow’ a CHD, like atrial septal defect.
Having CHD need not relegate a child to lifelong heart problems. “People with CHD run 5ks and half marathons,” Dr. Singh says. Still, young, and older, adults with CHD should have regular primary care and cardiology checkups. “Stay on top of it, especially as your child transitions from pediatric cardiology to adult cardiology,” he says. “Teach your children to establish a relationship with a healthcare provider and make their health a priority.”