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What is a Congenital Heart Defect?

Congenital heart defects are small defects or abnormalities that are present from birth. In fact, they can be detected as early as the prenatal stage. A defect may obstruct the flow of blood or alter the heart’s rhythm, and it can require a lifetime of management.

While the causes vary, there is typically a genetic component. Congenital heart defects have also been linked to tobacco use by the mother during pregnancy. And they are not uncommon. According to the Center for Disease Control, CHDs are the most common type of birth defects, impacting close to 40,000 newborns in the U.S. each year.

Common types of congenital heart defects include:

  • An obstruction of the heart valve that traps the flowing blood (or, alternately, a leaky valve).
  • A hole between the atria or the ventricles that enables blood which is high in oxygen to mix with blood which is low in oxygen.
  • A transposition of the two main arteries, whereby they connect to the wrong chambers, rerouting the necessary blood flow cycle.
  • Coarctation of the aorta (commonly known as a pinched aorta), whereby an abnormally narrow section of the aorta restricts blood flow.

Symptoms of CHD

One of the most common symptoms is known as heart murmur—it’s a murmuring sound that the defect causes the heart to make, audible through a stethoscope. Additionally, a non-invasive pulse oximetry screening can reveal whether the level of oxygen in a newborn’s blood is too low—another strong indicator of a CHD. Other symptoms commonly present in children include:

  • A pale bluish skin color (this is called cyanosis)
  • Rapid breathing or shortness of breath, particularly when feeding or exercising
  • Swelling around the eyes, legs, or abdomen
  • Recurring respiratory infections

Risk Factors

Most congenital heart defects come about early in a child’s heart development, due to unknown causes. But there are environmental and genetic risk factors that can come into play:

Heredity. Unfortunately, congenital heart defects seem have a genetic component.

Rubella. Also known as German measles, rubella during pregnancy can cause heart development issues.

Diabetes. While gestational diabetes isn’t normally a factor, chronic diabetes can interfere with fetal heart development.

Medications. It’s important to tell your doctor what medications you take before attempting to conceive, since some are known to cause congenital heart defects.

Drinking alcohol while pregnant. Avoid drinking alcohol during pregnancy, period.

If a doctor has reason to suspect that a patient may have a congenital heart defect, he or she will request further tests such as chest x-rays or an electrocardiogram in order to properly diagnose the issue.

Today, pediatric cardiologists and other health care providers can diagnose congenital heart defects earlier and better than ever before. Diagnosis can happen as early as the second trimester of pregnancy and as late as early adulthood (since in some cases, the symptoms do not appear for many years).

Newer and better treatment options are emerging as well, including less invasive surgery procedures. In general, congenital heart defects will require a lifetime of monitoring, but not every case will require treatment. Those that do will require either medication or surgery, and in some cases both.

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