Eisenmenger Syndrome

Eisenmenger syndrome is a complication of certain untreated congenital heart defects. These defects make too much blood flow to your lungs, leading to raised pressure in your pulmonary arteries. Over time, the pressure gets so high that some blood reverses direction. Blood that should normally flow through your lungs instead goes back to your heart and out to your body.

This means the blood that’s going out to your organs and tissues is low in oxygen. When your body can’t get enough oxygen, a wide range of symptoms and complications can develop. Some of these issues are life-threatening or fatal.

If you have Eisenmenger syndrome, you’ll need to work closely with a team of healthcare providers. They’ll help manage your condition. They’ll also help reduce symptoms so you can have a quality of life that’s meaningful to you.

Eisenmenger syndrome isn’t common in the U.S. and other developed countries. This is because healthcare providers usually diagnose and treat heart defects before they lead to serious problems. But this condition remains common in many low- and middle-income countries with limited access to healthcare.

Symptoms of Eisenmenger syndrome

Eisenmenger syndrome causes symptoms of hypoxemia, or low blood oxygen levels. You might feel short of breath when you’re moving around. You may also notice a blue tint to your skin, called cyanosis. This can appear on your cheeks, lips, gums, hands and/or feet. Cyanosis can be harder to notice if you have darker skin.

You’ll likely also have symptoms of pulmonary arterial hypertension, which include:

• Chest pain
• Dizziness
• Fainting
• Fatigue

Eisenmenger symptoms usually develop in adolescence or adulthood. But they may appear much sooner, including in early childhood.

Eisenmenger syndrome causes

An unrepaired hole between your heart chambers or your aorta and pulmonary artery causes Eisenmenger syndrome. The hole creates a left-to-right shunt, or an abnormal passage for blood flow to your lungs. Over time, this increased blood flow damages arteries in your lungs and raises the pressure in them, leading to pulmonary arterial hypertension (PAH).

PAH makes it hard for blood to flow through your lungs as it should because the pressure is high. Eventually, your blood faces so much resistance that it starts to reverse direction. This causes some blood to flow back to your heart, rather than flowing through your lungs. Now, blood flows from right to left through the hole or in both directions. This reversed (right-to-left) shunt is a hallmark of Eisenmenger syndrome.

Congenital heart defects that can cause Eisenmenger syndrome include:

• Atrial septal defect (ASD): A hole in the wall between your upper heart chambers
• Atrioventricular septal defect: A hole in the center of your heart, along with valve problems
• Patent ductus arteriosus (PDA): An abnormal passage between your aorta and main pulmonary artery
• Single-ventricle defect: Heart anatomy that involves just one working lower chamber
• Ventricular septal defect (VSD): A hole in the wall between your lower heart chambers

Complications of this condition

Eisenmenger syndrome affects many different parts of your body. A common complication is that your body makes more red blood cells. This is called secondary erythrocytosis. It’s your body trying to compensate for low levels of oxygen in your blood.

Other complications include:

• Abnormal bleeding, including coughing up blood, nosebleeds, heavy menstrual flow and bleeding gums
• Arrhythmias, especially atrial tachycardia or atrial fibrillation
• Blood clots, which could lead to stroke
• Brain abscesses
• Clubbed fingers
• Gallstones
• Heart failure
• Increased uric acid levels, possibly leading to gout
• Infective endocarditis
• Iron-deficiency anemia
• Problems with kidney function

Pregnancy complications

Pregnancy is very dangerous if you have Eisenmenger syndrome. There’s a high risk of serious complications, including maternal or fetal death.

If there’s a chance you could become pregnant, talk to your healthcare provider. They’ll advise you on contraception. They’ll also help you understand other options for growing your family, like adoption and gestational surrogacy.

How doctors diagnose this condition

A physical exam, along with your medical history, might make your healthcare provider suspect Eisenmenger syndrome. Then, they’ll run tests to see what’s going on.

Tests you may need include:

• Blood tests
• Echocardiogram (echo)
• Electrocardiogram (EKG/ECG)
• Exercise stress test
• Heart catheterization
• Heart CT
• Heart MRI
• Pulse oximetry to check blood oxygen levels
• Walking test to monitor oxygen levels

Some of these tests check your heart function and blood flow through your heart and lungs. Others help diagnose complications, like a high red blood cell count.

Diagnosing Eisenmenger syndrome frequently involves some type of imaging test to determine the location of the shunt (where the blood goes the wrong direction). It may also involve a heart catheterization, which is the gold standard to determine how much blood is going in the wrong direction and what the pressure is in your lungs.

How is Eisenmenger syndrome treated?

Treatment for Eisenmenger syndrome involves medicines to help blood flow better through your lungs and reduce your symptoms. Providers also give you treatments to prevent or manage complications. Surgery can’t repair the issue, but organ transplants are an option for some people.

Possible treatments include:

• Medicine to reduce pressure in your pulmonary arteries: These medicines, like bosentan (Tracleer®), are called PAH therapies. They may make it easier for you to move around without feeling short of breath. They’re typically a mainstay of Eisenmenger treatment.
• Medicine to treat or prevent infections: You may need antibiotics before certain procedures, such as a dental cleaning, to prevent infections that could spread to your heart.
• Exercise training: This is supervised exercise you do with a healthcare provider. It may help improve your ability to breathe while moving around. Don’t try any exercises on your own without talking to your provider first.
• Medicine to manage arrhythmias: Abnormal heart rhythms are common complications of Eisenmenger syndrome. Medicine and procedures can help correct these.
• Iron supplements: You might need to take iron if you develop an iron deficiency. Your provider may give you pills to take by mouth. Or you may receive infusions through an IV.
• Supplemental oxygen: Providers don’t routinely prescribe oxygen therapy at home for people with Eisenmenger syndrome. But in select cases, they may recommend it to improve your blood oxygen levels.
• Medicine to lower your risk of blood clots: These are called blood thinners. Providers use these with caution, as they pose some risks with Eisenmenger syndrome. But you may need them if you have abnormal clotting or atrial fibrillation.
• Transplant: If medicines aren’t helping you enough, you may need a heart transplant or heart-lung transplant.

Providers can’t repair the heart defect that’s causing Eisenmenger syndrome. Up until now, your body has tried to adapt to the flow issues in your heart and lungs. Your body can’t undo that work fast enough if your provider fixes the defect. So, surgical repair can lead to serious complications. But researchers continue to look into new approaches that might help people one day.

How do I take care of myself?

There’s a lot you can do in your daily life to help manage Eisenmenger syndrome. Talk to your provider for advice tailored to your needs. They may recommend that you:

• Avoid smoking, which can make you cough up blood or develop endocarditis.
• Drink plenty of water to stay hydrated.
• Eat nutritious foods.
• Get certain vaccines to lower your risk of infections.
• See a counselor to cope with the stress of living with a chronic illness.

When should I see my healthcare provider?

You’ll need to see a cardiologist and pulmonologist for life. They’ll tell you when to come in for appointments. You may also need to see other specialists, like a hematologist, depending on the complications that develop.

If possible, seek care at a large medical center where doctors have experience in treating adult congenital heart disease and pulmonary hypertension.

What can I expect if I have this condition?

Eisenmenger syndrome typically shortens a person’s lifespan. It’s sometimes fatal in childhood. But many people live to early adulthood or even middle age. How long you live depends on many factors, including the type of heart defect you were born with and any other conditions you have.

Your healthcare providers can give you the most accurate prognosis. In general, research shows:

• About 7 to 8 out of every 10 people with Eisenmenger syndrome live at least five years after their diagnosis.
• Nearly 6 in 10 people live at least 10 years after their diagnosis.
• About 2 in 10 people live to age 60.

The most common causes of death for people with Eisenmenger syndrome are:

• Infections, especially pneumonia
• Heart failure
• Sudden cardiac death

It’s a good idea to talk to your providers and a lawyer about advanced directives. These legal documents can help ensure your wishes for medical care, including at the end of life, are carried out. You may also want to learn about palliative care options. It can be hard to think about these things. But such planning can help both you and your loved ones in the future.