What is Eisenmenger Syndrome?

Eisenmenger syndrome occurs as the result of a birth defect you are born with. This particular birth defect is also called a congenital heart abnormality. This birth defect changes the way blood flows through the heart. It means the body doesn’t get enough oxygen. People with this condition have a high risk of heart failure, stroke, and premature death.

It’s named for Dr. Victor Eisenmenger, who first identified the condition in 1897.

How It Happens

Your heart has four chambers -- a left and right atrium and a left and right ventricle. As your heart beats, blood travels from the body into the right atrium, which sends it to the right ventricle. The right ventricle pumps the blood to the lungs, where it picks up oxygen. When that oxygen-carrying blood goes back to the heart, the left atrium takes it in and passes it to the left ventricle, which sends it out to your body.

But in people with Eisenmenger syndrome, there’s often a hole between chambers – usually between the left and right ventricle. When that happens:

1. Oxygen-rich blood gets sent back to the lungs instead of flowing out to your body.
2. This raises the blood pressure in your lungs.
3. High blood pressure in the lungs causes blood to back up in the heart and pass through the hole into the left ventricle.
4. The left ventricle sends the backed-up blood (which hasn’t picked up oxygen) out to your body.

If that defect isn’t found and corrected early, it can result in more problems, like high blood pressure in your lungs (pulmonary hypertension) and heart failure.

Of all the people who are born with a heart defect, about 1 in 12 will develop Eisenmenger syndrome. But that rate may be dropping, because doctors are more able to discover and repair those defects early in life.

Symptoms

In most cases, the symptoms show up before puberty. Sometimes, they can be spotted during infancy or early childhood.

These symptoms are easiest to spot:

• A bluish color to the skin because of lack of oxygen (cyanosis)
• Wide fingertips and toes (clubbing)
• Shortness of breath
• Fluid buildup in parts of the body (edema)
• An abnormal heart rhythm
• Dizziness or headaches
• Chest pains
• Swelling in the joints (gout)

The condition can also affect the body’s production of red blood cells (they carry oxygen), cause blood clotting or excessive bleeding.

Diagnosis

If your child’s doctor suspects Eisenmenger syndrome, they might refer them to a specialist who deals with heart problems in children and young adults. That specialist will look for:

• Blue skin
• Signs of an improper opening between two heart chambers (cardiac shunt)
• High blood pressure in the lungs that won’t respond to drugs

Your doctor will also want to do:

• Imaging tests like an X-rays, CT scan, or an echocardiogram
• An electrocardiogram (EKG or ECG) or a walking test (to measure your heart rate and blood flow)
• Blood tests (to look for abnormally high or abnormally low red blood cell counts)
• Cardiac catheterization (for detailed information about the heart)
• Lung function tests (to measure how much oxygen is getting to your bloodstream)

Treatment

If those tests point to Eisenmenger syndrome, your doctor will talk with you about a treatment plan. The focus will be on lowering blood pressure in the artery that carries blood to the lungs and getting more oxygen to the body. This can be done in a variety of ways, ranging from drugs to major surgery.

The plan might involve taking medicines that:

• Relax the arteries to improve blood flow
• Keep your heart beating at a regular rhythm
• Prevent infections (antibiotics)
• Prevent blood clots (blood thinners)

Your doctor may also want you to take iron supplements.

You might also have blood removed from your body to reduce the number of red blood cells, if you’re overproducing them. You’ll be given fluids to make up for the lost blood.

In severe cases, doctors might perform a heart-lung transplant. This is done when the heart and lungs are failing. Obviously, this is a major step that requires a sophisticated hospital and experienced surgeons.

Living With Eisenmenger Syndrome

People with this disease don’t live as long as others, and there’s a high risk of sudden death. Most people with Eisenmenger syndrome die between their 20s and 50s. But with careful management, people with this condition may live into their 60s.

If you have Eisenmenger syndrome, you should make sure you’re following your treatment plan. In addition, doctors recommend several steps:

• Avoid high altitudes and dehydration.
• Strenuous sports are out, but exercising may be OK. Ask your doctor.
• Eat a low-salt diet, and don’t smoke.
• Ask your doctor about which over-the-counter medicines are safe for you.
• Get your vaccines and take care of cuts to avoid infections.
• Avoid hot tubs or saunas. They can cause your blood pressure to drop suddenly.
• If you’re having surgery or getting dental work done, you’ll want to talk to your doctor about whether you should take antibiotics beforehand. This reduces the risk of an infection that can attack the heart.

If you’re a woman with this disease, getting pregnant can put your life and your unborn baby’s life at risk. Doctors will most likely recommend against it.

This is a life-changing condition, and facing up to its challenges and emotional toll can be hard. You should talk with your doctor about support groups and other resources that may be available to you and your loved ones.

Read more on: a to z guides