Eisenmenger syndrome

Eisenmenger (I-sun-meng-ur) syndrome is a long-term complication of an unrepaired heart condition present at birth, called a congenital heart defect. Eisenmenger syndrome is life-threatening.

In Eisenmenger syndrome, there is irregular blood flow in the heart and lungs. This causes the blood vessels in the lungs to become stiff and narrow. Blood pressure rises in the lungs' arteries. Eisenmenger syndrome causes permanent to the blood vessels in the lungs.

Early diagnosis and repair of congenital heart defects usually prevents Eisenmenger syndrome. If it does develop, treatment involves regular health checkups and medicines to improve symptoms.

Symptoms of Eisenmenger syndrome include:

• Blue or gray skin. Depending on skin color, these changes may be harder or easier to see.
• Chest pain or tightness.
• Coughing up blood.
• Dizziness or fainting.
• Easily tiring and shortness of breath with activity.
• Headaches.
• Large, rounded fingernails or toenails, called clubbing.
• Numbness or tingling in fingers or toes.
• Shortness of breath while at rest.
• Skipped or racing heartbeats.

When to see a doctor

If you have any symptoms of Eisenmenger syndrome, see your healthcare professional. Make an appointment even if you have never been diagnosed with a heart condition.

Get emergency medical help for symptoms such as shortness of breath or chest pain.

Eisenmenger syndrome is usually caused by an unrepaired hole between the main blood vessels or chambers of the heart. The hole is called a shunt. A shunt is a heart problem present at birth, which means it's a congenital heart defect.

Congenital heart defects that can cause Eisenmenger syndrome include:

• Ventricular septal defect. This is the most common cause of Eisenmenger syndrome. There is a hole in the wall of tissue between the bottom heart chambers.
• Atrioventricular canal defect. This is a large hole in the center of the heart. The hole is where the walls between the upper chambers and lower chambers meet. Some of the valves in the heart also may not work as they should.
• Atrial septal defect. This is a hole in the wall of tissue between the two upper heart chambers.
• Patent ductus arteriosus. This is an opening between the artery that carries oxygen-poor blood to the lungs and the body's main artery.

In any of these heart conditions, blood flows in a way it usually doesn't. As a result, pressure rises in the pulmonary artery. Over time, the increased pressure damages the smaller blood vessels in the lungs. The damaged blood vessel walls make it hard for the heart to pump blood to the lungs.

In Eisenmenger syndrome, blood pressure rises in the side of the heart that has oxygen-poor blood, also called blue blood. The blue blood goes through the hole in the heart or blood vessels. Oxygen-rich and oxygen-poor blood now mix. This causes low blood oxygen levels.

A family history of congenital heart defects increases the risk of similar heart problems in a baby. If you've been diagnosed with Eisenmenger syndrome, talk with your healthcare professional about screening other family members for congenital heart defects.

Eisenmenger syndrome is a life-threatening condition. How well someone with Eisenmenger syndrome does depends on the specific cause and if there are other medical conditions.

Complications of Eisenmenger syndrome may include:

• Low blood oxygen levels. The change in blood flow through the heart sends less oxygen to the body's tissues and organs. Without quick treatment, the oxygen levels get worse.
• Irregular heartbeats, also called arrhythmias. Eisenmenger syndrome causes the heart walls to get bigger and thicker. It also causes a drop in oxygen levels. These changes may lead to irregular heartbeats. Some irregular heartbeats increase the risk of blood clots that can cause heart attacks or strokes.
• Sudden cardiac arrest. This is the sudden loss of heart activity due to an irregular heart rhythm. If not treated immediately, sudden cardiac arrest can quickly lead to death. Survival is possible with fast, proper medical care.
• Heart failure. The increased pressure in the heart can cause the heart muscle to weaken. It becomes harder for the heart to pump blood.
• Bleeding in the lungs. Eisenmenger syndrome can cause life-threatening bleeding in the lungs and airways. Bleeding also can occur in other parts of the body.
• Stroke. If a blood clot travels from the right side to the left side of the heart, the clot may block a blood vessel in the brain. A blood clot in the brain can lead to a stroke.
• Kidney disease. Low oxygen levels in the blood may lead to trouble with the kidneys.
• Gout. Eisenmenger syndrome can increase the risk of a type of arthritis called gout. Gout causes sudden, severe attacks of pain and swelling in one or more joints, usually the big toe.
• Heart infection. People with Eisenmenger syndrome have a higher risk of a heart infection called endocarditis.
• Pregnancy risks. During pregnancy, the heart and lungs have to work harder to support the growing baby. Because of this, pregnancy with Eisenmenger syndrome poses a high risk of death for both the pregnant person and the baby. If you have Eisenmenger syndrome, talk with your healthcare professional about your specific pregnancy risks.

To diagnose Eisenmenger syndrome, your healthcare professional examines you and asks questions about your symptoms and medical history.

Tests

Tests to diagnose Eisenmenger syndrome may include:

• Blood tests. A complete blood cell count is often done. The number of red blood cells may be high in Eisenmenger syndrome. Blood tests also are done to see how well the kidneys and liver are working. Another blood test checks iron level.
• Electrocardiogram (ECG or EKG). This quick and painless test measures the electrical activity of the heart. During an ECG, sticky patches with sensors on them attach to the chest and sometimes to the arms or legs. Wires connect the sensors to a machine, which displays or prints results. An ECG can show how fast or slow the heart is beating.
• Chest X-ray. A chest X-ray shows the condition of the heart and lungs.
• Echocardiogram. Sound waves create detailed images of the heart in motion. An echocardiogram shows blood flow through the heart and heart valves.
• Computerized tomography (CT) scan of the lungs. This type of CT scan uses X-rays to create detailed images of the lungs and lung arteries. CT scan images provide more-detailed information than plain X-rays do. Dye, called contrast, may be given through a vein (IV) for this test. The dye helps blood vessels show up more clearly on the images.
• Magnetic resonance imaging (MRI) scan of the lungs. This test uses magnetic fields and radio waves to create detailed images of the blood vessels in the lungs.
• Cardiac catheterization. This test shows how blood flows through the heart arteries. A doctor places a thin, flexible tube called a catheter into a blood vessel, usually in the groin or wrist, and guides it to the heart. Dye flows through the tube to the arteries. The dye helps the arteries show up more clearly on X-ray images and video. Pressures in the blood vessels and heart's chambers can be measured during this test. Cardiac catheterization also can show the size of any holes in the heart.
• Walking test. You might be asked to walk for several minutes to see how your body reacts to mild exercise.

The goals of Eisenmenger syndrome treatment are to:

• Manage symptoms.
• Improve quality of life.
• Prevent complications.

If you have Eisenmenger syndrome, you are usually sent to a doctor trained in heart diseases, called a cardiologist. It's helpful to find a cardiologist who has experience treating people who have congenital heart defects. Regular health checkups — at least once a year — are an important part of Eisenmenger syndrome treatment.

Medications

Medicines are the main treatment for Eisenmenger syndrome. Medicines can't cure Eisenmenger syndrome, but they can help improve quality of life.

Medicines used to treat Eisenmenger syndrome include:

• Medicines to control the heartbeat. These medicines are called anti-arrhythmics. They help control the heart rhythm and prevent irregular heartbeats.
• Iron supplements. Your healthcare professional may suggest these if your iron level is too low. Don't start taking iron supplements without talking with your healthcare team.
• Aspirin or blood-thinning medicines. If you have had a stroke, blood clot or some types of irregular heartbeats, you may need to take aspirin or a blood thinner such as warfarin (Jantoven). These medicines can increase the risk of bleeding. Never take them unless your healthcare team tells you to do so.
• Bosentan (Tracleer). This medicine is used if you have pulmonary arterial hypertension. It helps send more blood to the lungs. If you take this medicine, you need regular blood tests because the drug can damage the liver.
• Sildenafil and tadalafil. Sildenafil (Revatio, Viagra) and tadalafil (Cialis, Adcirca, others) are sometimes used to treat high blood pressure in the pulmonary arteries caused by Eisenmenger syndrome. These medicines open the blood vessels in the lungs so blood flows more easily.
• Antibiotics. Some dental and medical procedures may let germs into the bloodstream. Some people need to take antibiotics before surgery or dental procedures to prevent a heart infection called endocarditis. Preventive antibiotics are only recommended in specific situations. Talk with your healthcare professional to learn if they are right for you.

Surgeries or other procedures

Healthcare professionals don't recommend surgery to repair the hole in the heart once Eisenmenger syndrome has developed.

Surgeries or procedures that may be done to treat symptoms or complications of Eisenmenger include:

• Blood withdrawal, also called phlebotomy. If your red blood cell count is too high and is causing symptoms such as headaches or trouble seeing or concentrating, you may need this treatment. Phlebotomy should not be done routinely and should only be done after talking with a congenital heart disease expert. Fluids should be given through a vein (IV) during this treatment to help replace the lost fluids.
• Heart or lung transplant. If other treatments for Eisenmenger syndrome don't work, some people may need surgery to replace the heart or lungs.

If you need treatment for Eisenmenger syndrome, get care at a medical center with healthcare professionals who have experience in congenital heart diseases.

If you have Eisenmenger syndrome, these tips may help improve your quality of life.

• Drink plenty of fluids. Ask your healthcare team how much fluid you need each day. You may need to drink more fluids when you are sick or when you are in a heated room or on an airplane.
• Ask if exercise and sports are OK. If you have Eisenmenger syndrome, you shouldn't do really hard exercise or sports. But you may be able to do less intense physical activities. Ask your healthcare professional what type of physical activity is best for you.
• Avoid high altitudes. Because of the low oxygen levels at high altitudes, people with Eisenmenger syndrome should not spend a lot of time at high altitudes. The American College of Cardiology and the American Heart Association say to avoid exposure to altitudes of 5,000 feet (1,524 meters) or more above sea level. If you plan to take an airplane trip or travel to high altitudes, ask your healthcare professional for specific guidance.
• Avoid situations that can greatly lower blood pressure. For example, do not sit in a hot tub or sauna or take long hot baths or showers. Such activities lower blood pressure and may cause fainting or other complications. If you have Eisenmenger syndrome, also avoid activities that cause prolonged straining, such as lifting heavy objects or weights.
• Use medicines and supplements with care. Many supplements and medicines, including those bought without a prescription, can affect blood pressure. Some may increase the risk of bleeding or affect kidney function in those who have Eisenmenger syndrome. Talk with your healthcare team before taking any new supplements or medicines.
• Get a flu shot. If you have Eisenmenger syndrome, it's especially important to prevent respiratory infections such as the flu. Get a flu shot every year and a pneumonia vaccination every five years.
• Do not smoke or use tobacco. Also stay away from secondhand smoke. Smoking can increase the risk of Eisenmenger syndrome complications.

Birth control and pregnancy

If you have Eisenmenger syndrome, pregnancy poses serious health risks — and can be life-threatening — for you and the baby. Healthcare professionals say it's critical that pregnancy be avoided if you have Eisenmenger syndrome.

Effective contraceptive methods include vasectomy, an intrauterine device (IUD) or a contraceptive hormonal implant such as etonogestrel (Nexplanon). Tying of the fallopian tubes, also called tubal ligation, is a very effective form of contraception. But it's less often recommended due to the risks posed by having even minor surgery.

Birth control pills containing estrogen aren't recommended for those who have Eisenmenger syndrome. Estrogen increases the risk of developing blood clots that could potentially block an artery to the heart, brain or lungs. Using a barrier method alone, such as a condom or diaphragm, isn't recommended due to the risk of failure.

If you have Eisenmenger syndrome, you may find that joining a support group is helpful. Some people find that talking with others who have been through similar situations brings comfort and encouragement. Ask your healthcare team if there are any local support groups.

Children with a congenital heart defect or Eisenmenger syndrome may have emotional and physical concerns that can affect home and school life. For example, a long recovery time from a medical treatment may lead to developmental delays. Ask your healthcare team about ways you can help your child. This may include support groups or a visit to a therapist or psychologist.

Eisenmenger syndrome is a complicated condition. There's often a lot to discuss at a medical appointment. So it's a good idea to be prepared. Here's some information to help you get ready for your appointment and know what to expect from your healthcare professional.

What you can do

• Make note of any previous heart treatments. Include medicines, surgeries or other treatments for any heart conditions.
• Be aware of any pre-appointment restrictions. When you make the appointment, ask whether there's anything you need to do in advance, such as fill out forms or not eat or drink for a while. For example, you or your child may be told not to eat or drink for a few hours before an imaging test.
• Write down any symptoms, including any that may seem unrelated to Eisenmenger syndrome. Try to remember when they started. Be specific, such as days, weeks and months.
• Write down important personal information, including a family history of congenital heart defects, pulmonary hypertension, lung disease, heart disease, stroke, high blood pressure or diabetes, and any major stresses or recent life changes.
• Make a list of all medicines, vitamins and supplements that you take. Include the dosages. Also note any medicines or supplements that you or your child recently stopped taking.
• Take someone along, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who goes with you may remember something that you missed or forgot.
• Write down questions to ask your healthcare professional.

Your time with the healthcare professional may be limited. Having a list of questions ready can help you make the most of your time together. List your questions from most important to least important in case time runs out. For Eisenmenger syndrome, some basic questions to ask the healthcare professional include:

• What are other possible causes for the symptoms?
• What kinds of tests are needed?
• What is the treatment?
• What are the side effects of the treatment?
• Do you recommend changes to exercise or sports?
• How often are follow-up visits needed?
• Can you recommend a specialist who has experience treating Eisenmenger syndrome?
• Are there any brochures or other printed material that I can take home with me? What websites do you recommend?

Don't hesitate to ask other questions.

What to expect from your doctor

Your healthcare team is likely to ask you many questions. Being ready to answer them may save time to go over information you want to spend more time on. Your healthcare team may ask:

• Have you ever been diagnosed with a heart condition or high blood pressure in the lungs? If so, what treatments did you have for your condition?
• When did the symptoms start?
• Are there always symptoms or do they come and go?
• How bad are the symptoms?
• What, if anything, seems to improve the symptoms?
• Does anything make symptoms worse?