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Congenital Heart Disease (CHD)

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What Is Congenital Heart Disease?

According to the CDC, congenital heart disease (CHD) affects 1% or nearly 40,000 births per year in the United States.

CHD describes any problem with the heart's structure that is present at birth, and it is the most common birth defect, occurring in nearly one percent of all births. It's estimated that two to three million Americans are currently living with CHD.

Adults with CHD face a lifelong increased risk of a wide variety of diseases including:

  • Heart failure
  • Sudden cardiac arrest
  • Kidney diseases
  • Stroke

About one-third of people with unrepaired CHD will develop pulmonary hypertension.

Congenital heart disease causes

An abnormal formation of the heart during fetal development causes congenital heart disease.

Many factors contribute to the cause of CHD. Some known causes of congenital heart disease include:

  • Abnormal chromosomes
  • Single gene defects
  • Environmental factors

Types of congenital heart diseases

There are many times of congenital heart diseases.

The most common types of CHD include problems with the following areas of the heart:

  • Valve defects
  • Walls of the heart
  • Heart Muscles
  • Blood vessels

Symptoms of Pulmonary Hypertension in Adults with CHD

The symptoms of pulmonary hypertension in adults with CHD often develop slowly and include:

  • Fatigue
  • Shortness of breath, especially with exercise
  • Swelling of the lower extremities or abdomen (edema)
  • Heart rhythm problems

People who have shunts (abnormal blood passages within the heart), typically have more severe symptoms of pulmonary hypertension. Because CHD can overlap with many other medical problems, pulmonary hypertension is often underdiagnosed in those with CHD.

Congenital heart disease diagnosis

To diagnose congenital heart disease, your doctor will listen to the heart for a murmur. A heart murmur is an abnormal sounding heart beat. Most heart murmurs are not serious. If your doctor hears a murmur and suspects that it could be the sign of something more serious, like CHD, he or she will perform a series of tests.

These heart tests can include:

  • Fetal echocardiogram
  • Echocardiogram
  • Fetal electrocardiogram
  • Chest X-ray
  • Pulse oximetry
  • Cardiac catheterization

Pulmonary Hypertension with Congenital Heart Disease Treatment

Treating pulmonary hypertension in adults with CHD requires highly specialized care. Unfortunately, fewer than 10% of adults with CHD nationwide receive the care they need from a center specializing in the treatment of adult CHD.

UPMC's Adult Congenital Heart Disease Center takes a cross-disciplinary approach to care, working closely with expert doctors in UPMC Comprehensive Pulmonary Hypertension Program and other centers specializing in CHD-related conditions. That cooperation ensures that each person with CHD receives the right care for their unique health condition.

Before starting any therapy to address their pulmonary hypertension, our doctors make sure people with CHD are receiving the right medical or surgical treatments for any underlying heart problems. Additional treatments for pulmonary hypertension typically involve vasodilator medications, which widen the blood vessels in the lungs and decrease blood pressure.

With proper therapy, adults with CHD tend to see greater improvement in their pulmonary hypertension symptoms than many other groups.

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