What Parents of Children with Heart Defects Need to Know

This slideshow highlights how medical advances paint a brighter picture for those born with the most common form of birth defect.

Birth defects, especially those that affect the heart, are common.
Hearing the whoosh of your baby’s heartbeat for the first time is an exciting moment for expecting parents. Sometimes, though, babies have congenital heart defects (conditions present at birth that can affect the heart’s structure and the way it works). Congenital heart defects are the most common type of birth defect, affecting about 1 in every 100 babies born in the U.S. each year. At Yale Medicine, we provide the full range of care for children (and adults) with congenital heart defects, from prenatal monitoring to careful medical monitoring to surgery (when needed), and now, even to heart transplant.
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Heart defects come in all shapes and sizes.
Congenital heart defects come in a variety of forms and degrees of severity. Problems that affect the walls inside the heart, the valves, and the large vessel that carries blood from the heart are the most common types of congenital heart defects. Not all defects require treatment, while others—especially those affecting multiple structures of the heart—may require surgery soon after a baby’s birth.
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Some heart defects are diagnosed in utero.
A baby’s heart begins to form at six weeks of gestation. Severe congenital heart defects are typically diagnosed during pregnancy or shortly after birth. Detecting a baby’s heart problems early in a woman’s pregnancy—between the 18^th and 22^nd weeks—is key because it gives medical specialists time to help families plan for the best prenatal care and any necessary interventions before or after birth. Some heart defects can be picked up during traditional ultrasounds. If a doctor suspects a heart defect, a more advanced imaging test will be performed to confirm the diagnosis. Called fetal echocardiography, it uses sound waves to create a picture of the heart’s interior and shows how the baby’s heart formed and if it’s working properly.
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A heart check at birth.
All newborns are screened for heart defects with a test called pulse oximetry. Sensors are placed on the skin to check for low oxygen levels, which could signal a congenital heart problem. Sometimes, there are no symptoms of a defect, but the more serious types will be apparent quickly and may affect a child’s ability to eat and gain weight. Other symptoms may include extreme fatigue, breathing trouble, or a bluish tint to the lips and nails. These problems could arise a few days after birth, or much later. A doctor may detect abnormal heart rhythms, sounds, or shortness of breath during a physical. Several tests, including an echocardiogram, can confirm a diagnosis.
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A diagnosis can happen later in childhood—or as an adult.
Heart defects that are less serious may not be diagnosed until later in childhood. Swelling in the hands, ankles, and feet, as well as getting out of breath or tiring easily from exercise can be signs or symptoms of congenital heart disease in older kids. Sometimes, people with congenital heart disease aren’t diagnosed until adulthood.
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Treatment options vary.
Sometimes, infants and children with congenital heart defects require one or more surgical procedures to repair the heart or blood vessels. Certain problems can be treated without surgery using cardiac catheterization. This involves puncturing the skin with a tiny needle and inserting a thin tube (catheter) through a blood vessel to the heart, so the doctor can fix the problem.
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Medical advances save lives.
A diagnosis of a congenital heart defect used to be grim news for new parents. But thanks to medical advances, people with congenital heart defects are living longer, healthier, and active lives. The condition will require regular monitoring by a cardiologist throughout patients’ lives, and Yale Medicine’s Adult Congenital Heart Program offers comprehensive care for adults with congenital heart disease who were diagnosed as children.
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