How to spot the most common birth defect in babies
child and doctor
Credit: Alloy Photography/ Veer

Allie wasn't fazed when a crowd of doctors entered her hospital room and began taking turns listening to the harsh whooshing sound in her chest. The 10-year-old patient was busy tapping away at an iPad game as I bent down at her bedside to listen to her murmur, a sign of a type of congenital heart disease, Tetralogy of Fallot.

Congenital heart disease (CHD) is a term that describes changes in the heart's architecture that happens in the womb. CHD is a heart condition that is present from birth, though it may not be picked up right away, says Stephen Kopf, M.D., associate director of the cardiovascular department at Phelps Memorial Hospital Center in Sleepy Hollow, New York. Each year, roughly 40,000 babies in the United States are born with a heart defect. It's estimated that CHDs affect nearly 1 in every 100 babies worldwide.

The severity of the defect depends on where the defect is. In Allie's case, the murmur was the result of redirected blood flowing from her left ventricle -- typically the final destination for blood cells before making their way through the body -- through a structural defect, or "hole," in her septum.

These are some common red flags of congenital heart disease:

Blue-tinted skinA blue tinge may appear on the skin, especially around the mouth and nose, due to a circulatory problem called central cyanosis. It happens when structural defects in the heart cause oxygenated and deoxygenated blood to mix, creating an incomplete oxygen supply to other parts of the body. Signs usually appear in a baby's first days or months, when she may also have shortness of breath, turn blue during feedings, or suddenly exhibit very rapid breathing.

Breathing issues

Babies who display a persistently elevated breathing rate (more than 50 breaths per minute), who appear to work hard to breathe even when they're resting, who have choking episodes, or who cough and get very tired during feedings all merit an evaluation. Still, some abnormal breathing patterns are typical in infants, especially when they're excited or feeding. Watch for excessive effort when feeding, which may be characterized by sweating and nasal flaring -- that's worrisome. So is head-bobbing (or uncontrolled rhythmical head movements with each breath), as it can indicate an increased breathing effort that is not typically normal.

Varying pulses

If a baby appears to bob his head, or if he has a noticeable difference in the color and temperature between his arms and his legs, he should have his pulse and blood pressure checked separately in upper and lower limbs. A weak pulse an infant's legs and a strong pulse in the arms may indicate a condition called coarctation of the aorta. This is a form of CHD in which the main artery that stems from the left ventricle and pumps blood to the rest of the body narrows. Infants with significant coarctation may also have mottled or cool lower extremities due to decreased blood flow in the legs. A hyperoxia test can be used to detect large differences between oxygen levels in the blood in the upper and lower extremities. If your pediatrician is concerned, she'll most likely refer your child to a pediatric cardiologist, who can measure oxygen levels in the right upper arm and in one of the lower legs. A significant difference between the two may signal a heart defect. More often, a pediatric cardiologist will choose to do an echocardiogram, a test done to visualize the heart directly and assess for structural anomalies.

What about older children?

Babies who were never diagnosed with congenital heart disease may show signs in toddlerhood. Kids age 3 and older may have skeletal abnormalities, sleep excessively, or experience a delay in motor development resulting form the cells in their bodies not getting enough oxygen.

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