Congenital Heart Disease

Written by Colleen Story | Published on August 12, 2012
Medically Reviewed by George Krucik, MD on April 6, 2012

Causes

Congenital heart disease can last into adulthood, but it’s always present at birth. Caused by an early developmental problem with the heart’s structure and function, it typically interferes with proper blood flow through the heart and may affect breathing. With today’s more advanced treatments and proper follow-up care, many infants who once would have died of congenital heart disease are able to survive well into adulthood.

Congenital heart disease is caused by a congenital heart defect. Often, the two terms are used interchangeably. According to the March of Dimes, one in 125 babies born in the United States has a congenital heart defect. In fact, these are the most common type of all birth defects. Although doctors sometimes don’t know the cause of the heart defect, suspected causes include:

  • genetics: the defect may run in families
  • medications: some drugs taken during pregnancy can increase the risk, such as anti-seizure medications
  • alcohol or drug abuse during pregnancy
  • infections: if the mother had a viral infection in the first trimester, it may increase the risk of giving birth to a child with a heart defect
  • diabetes: may affect childhood development. Gestational diabetes so far hasn’t been linked to congenital heart disease

Though there are many different types of congenital heart defects, they can be condensed into three main categories:

  1. Heart valve defects. The valves inside the heart that direct blood flow may close up or leak so that the heart can’t pump blood correctly.
  2. Heart wall defects. The natural walls that exist between the left and right side and the upper and lower chambers of the heart may not develop correctly, allowing blood to back up into the heart or pool where it doesn’t belong. The defect puts pressure on the heart to work harder and may result in high blood pressure.
  3. Blood vessel defects. The arteries and veins that carry blood to the heart and back out to the body may not function correctly, blocking or slowing blood flow.

Many doctors classify congenital heart defects into two types: those that result in low oxygen levels and those that don’t. Babies who suffer from breathlessness or whose skin turns a bluish tint aren’t getting enough blood because the heart isn’t pumping as it should. This is called “cyanotic heart disease.” Babies who have enough oxygen but later suffer from high blood pressure or other signs of a heart working too hard have “acyanotic heart disease.”

Symptoms and Risk Factors

A congenital heart defect may often be detected by an ultrasound during pregnancy. When a doctor hears a heart murmur, for instance, they may further investigate with tests like an echocardiogram, chest X-ray, or MRI. If a diagnosis is made, the doctor will have the appropriate specialists on hand during delivery. Early symptoms of a congenital heart defect include:

  • bluish lips, skin, fingers, and toes
  • breathlessness or trouble breathing
  • feeding difficulties (baby seems uninterested in nursing)
  • small birth weight
  • low oxygen levels or fainting
  • chest pain
  • delayed growth

Sometimes—particularly in acyanotic heart disease where the baby is getting enough oxygen—symptoms won’t show up until many years later. In this case, symptoms may include:

  • abnormal heart rhythms
  • dizziness
  • trouble breathing
  • fainting
  • swelling of the organs or body tissues
  • low oxygen levels
  • easily fatigued

Treatment

Treatment for a congenital heart defect depends on the type and severity of the defect. Some babies have mild heart defects that heal on their own with time. Some may need to be treated with medications. Others may require one or more heart surgeries. These may include: catheter procedures, open-heart surgeries or—in the most severe cases—a heart transplant.

Congenital Heart Disease in Adults

Depending on the defect, diagnosis and treatment may proceed shortly after birth, during childhood, or not until adulthood. Some defects present no symptoms until the person becomes an adult, and therefore aren’t treated until then. In these cases, symptoms of a newly discovered congenital heart defect may include:

  • shortness of breath
  • chest pain
  • reduced ability to exercise (early fatigue)

As with treatment in children, adult treatment varies from watchful waiting to medications and surgeries. Defects that may have been treated in childhood may present problems again in adulthood. The original repair may no longer be effective or the initial defect may become worse with time. Scar tissue that developed around the original repair may end up causing problems like arrhythmias. Sometimes a defect that was “mild” in childhood and required no treatment may worsen later.

Regardless of the situation, everyone with congenital disease should continue to go to their cardiologist for follow-up care. Treatments for congenital heart disease aren’t cures. They’re merely repairs to help the patient live a normal life. The risk for complications like high blood pressure in the lungs, heart infections, stroke, heart failure, is higher in those with congenital heart defects, so it’s best to maintain regular visits with a doctor who has experience in this type of heart disease.

Prevention

Women who are pregnant can take certain precautions to lower their risk of giving birth to a baby with a congenital heart defect:

  • If you’re planning on become pregnant, talk to your doctor about any medications you’re taking.
  • Avoid alcohol and illegal drugs during pregnancy.
  • If you have diabetes, make sure your blood sugar levels are under control before becoming pregnant and work with your doctor to manage the disease while pregnant.
  • If you weren’t vaccinated against rubella (German measles), avoid exposure to the disease and talk to your doctor about prevention options. 
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