Eisenmenger syndrome

Overview

Eisenmenger (I-sun-meng-uhr) syndrome is a long-term complication of an unrepaired heart defect that someone was born with (congenital).

The congenital heart defects associated with Eisenmenger syndrome cause blood to circulate abnormally in your heart and lungs. When blood doesn't flow normally, the blood vessels in your lungs become stiff and narrow, increasing the pressure in your lungs' arteries (pulmonary arterial hypertension). This permanently damages the blood vessels in your lungs.

With early diagnosis and repair of congenital heart defects, this life-threatening condition can usually be avoided. If Eisenmenger syndrome does develop, it requires careful medical monitoring. Medications can improve symptoms and prognosis.

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Symptoms

Eisenmenger syndrome signs and symptoms include:

  • Bluish or grayish skin color (cyanosis)
  • Large, rounded fingernails or toenails (clubbing)
  • Easily tiring and shortness of breath with activity
  • Shortness of breath while at rest
  • Chest pain or tightness
  • Skipped or racing heartbeats (palpitations)
  • Dizziness or fainting
  • Coughing up blood
  • Numbness or tingling in fingers or toes
  • Headaches

When to see a doctor

If you have any signs or symptoms of Eisenmenger syndrome, make an appointment to see your doctor. Even if you haven't previously been diagnosed with a heart defect, symptoms such as cyanosis and shortness of breath are signals that you have a health problem that needs medical attention.

Causes

Eisenmenger syndrome usually develops due to a hole between the chambers of your heart. To understand how Eisenmenger syndrome affects your heart and lungs, it's helpful to know how your heart works.

How the heart works

Your heart is divided into four chambers, two on the right and two on the left. The right side moves blood into vessels that lead to your lungs. In your lungs, oxygen enriches your blood, which then circulates to your heart's left side. The left side of your heart pumps blood into a large vessel called the aorta, which circulates blood to the rest of your body.

Valves control the flow of blood into and out of the chambers of your heart. These valves open to allow blood to move to the next chamber or to one of the arteries, and then close to keep blood from flowing backward.

How Eisenmenger syndrome develops

Eisenmenger syndrome is typically due to an unrepaired hole (shunt) between the main blood vessels or chambers of your heart. This shunt is a heart defect you're born with (congenital). Heart defects that can cause Eisenmenger syndrome include:

  • Atrioventricular canal defect. In this heart defect, there's a large hole in the center of the heart where the walls between the upper chambers (atria) and lower chambers (ventricles) meet. Some of the valves in your heart also may not function properly.
  • Atrial septal defect. An atrial septal defect is a shunt in the wall of tissue that divides the right and left sides of the upper chambers of your heart (atria).
  • Patent ductus arteriosus. This heart defect is an opening between the pulmonary artery that carries oxygen-poor blood to the lungs and the artery that carries oxygen-rich blood to the rest of your body (aorta).
  • Ventricular septal defect. This shunt in the wall of tissue that divides the right and left sides of your heart's main pumping chambers (ventricles) is the most common cause of Eisenmenger syndrome.

In any of these defects, blood is flowing in a way it normally doesn't, which increases the pressure in your pulmonary artery. Over time, this increased pressure damages the smaller blood vessels in your lungs. The damaged blood vessel walls make it difficult to pump blood to the lungs.

Eisenmenger syndrome causes increased blood pressure in the side of the heart that has low oxygen-containing blood (blue blood). This allows the low oxygen-containing blood to cross the hole (shunt) in the heart or blood vessels, which lets oxygen-rich and oxygen-poor blood mix. This lowers the oxygen level in your blood and causes a bluish tint to your skin (cyanosis). This also leads to an increase in your red blood cell count to try to make up for the lack of oxygen.

Risk factors

A family history of heart defects also increases the risk of a baby developing a congenital heart defect, including the possibility of developing Eisenmenger syndrome. Talk to your doctor about screening other family members for heart defects if you've been diagnosed with a heart defect or Eisenmenger syndrome.

Complications

Without proper treatment and monitoring, your complications of Eisenmenger syndrome may include:

  • Low oxygen levels in your blood (cyanosis). The reversed blood flow through your heart lowers the amount of oxygen your body's tissues and organs receive. This causes you to have a lower tolerance for physical activity and your skin to have a bluish or a grayish color. Cyanosis will worsen over time.
  • High red blood cell count. Because you aren't getting enough oxygen-rich blood circulating throughout your body, your kidneys release a hormone that increases your number of red blood cells — the cells that carry oxygen throughout your body. The increase in red blood cells allows more oxygen to be delivered to the body's tissues, which is an important way the body compensates for decreased oxygen levels.
  • Irregular heart rhythm. Enlargement and thickening of the walls in the heart, along with low oxygen levels, may cause an irregular heart rhythm (arrhythmia). Some types of arrhythmias can cause blood to pool in your heart's chambers, where it can clot. If the clot travels out of your heart and blocks an artery, you can have a heart attack or stroke.
  • Sudden cardiac arrest. If you develop an abnormal rhythm from the bottom chamber of the heart (the ventricle), the heart rate can be too fast to allow the heart to effectively pump blood to the body, and can eventually cause the heart to stop functioning. Sudden cardiac arrest is the sudden, unexpected loss of heart function, breathing and consciousness. Without immediate medical attention, you can die of sudden cardiac arrest in minutes.

    You can also go into cardiac arrest during surgical procedures, usually related to changes in blood pressure caused by anesthesia.

  • Heart failure. The increased pressure in your heart can cause your heart muscle to weaken, making it harder for your heart to pump blood. Eventually, this can lead to heart failure.
  • Coughing up blood. Increased pressure in the lungs and problems with your blood caused by Eisenmenger syndrome can cause life-threatening bleeding into your lungs and airways. This can cause you to cough up blood and further lower your blood oxygen level. Bleeding can also occur in other parts of the body.
  • Stroke. If a blood clot travels from the right to left side of the heart without being filtered out by your lungs, the clot may then block a blood vessel in the brain, leading to a stroke.
  • Kidney problems. Low oxygen levels in your blood may lead to problems with your kidneys. Eisenmenger syndrome can also increase your risk of developing gout.
  • Increased risk of infection. People with Eisenmenger syndrome have a higher risk of infection in the heart (endocarditis).
  • Pregnancy risks. Due to the demands pregnancy puts on a mother's heart and lungs, women who have Eisenmenger syndrome shouldn't become pregnant. Pregnancy for a woman who has Eisenmenger syndrome poses a high risk of death for both the mother and baby.

Eisenmenger syndrome is a life-threatening condition. The prognosis for people diagnosed with Eisenmenger syndrome depends on the type of congenital heart defect and other medical conditions. Some people diagnosed with Eisenmenger syndrome have survived into their 50s, 60s or even longer.

Diagnosis

To diagnose Eisenmenger syndrome, your doctor will discuss your medical history, perform a physical examination and order appropriate diagnostic tests. These tests may include:

  • Blood tests. Blood tests may be done to check your blood cell counts, which are often high in Eisenmenger syndrome. Your kidney and liver function, as well as your iron level, also may be measured with blood tests.
  • Electrocardiogram (ECG). This test records the electrical activity of the heart through electrodes attached to the skin, which can help diagnose heart defects.
  • Chest X-ray. Your doctor may order a chest X-ray to look for heart and pulmonary artery enlargement.
  • Echocardiogram. An ultrasound of the heart is called an echocardiogram. This test uses sound waves to create detailed images of your heart. An echocardiogram allows doctors to see the structure of your heart and blood flow through your heart to look for heart defects.
  • Computerized tomography (CT) scan. In this test, you'll lie in a machine that takes images of your lungs so that your doctors can see a cross section of them. You might also be given dye that makes the images of your lungs show up more clearly.
  • Magnetic resonance imaging (MRI). This test produces images of the blood vessels in your lungs by using a powerful magnetic field and radio waves.
  • Cardiac catheterization. In this test, doctors insert a thin, flexible tube (catheter) into an artery in your groin and guide the catheter to your heart using X-ray imaging. Doctors use cardiac catheterization to measure blood pressure in your blood vessels or heart's chambers, the size of any septal defect, and the pressures and flow across the defect. If you need to have cardiac catheterization done, make sure you choose a cardiologist who has expertise diagnosing and treating Eisenmenger syndrome.
  • Walking test. Your doctor may order a six-minute walking test to check your tolerance to a mild level of exercise.

Treatment

Eisenmenger syndrome treatment is aimed at controlling your or your child's symptoms and managing the condition. Although there's no cure, medications may help you feel better, improve your quality of life and prevent serious complications.

Doctors don't recommend surgery to repair the hole in your heart once Eisenmenger syndrome has developed, because any surgery may be life-threatening. It's important that you see a doctor who has expertise in Eisenmenger syndrome.

Observation and monitoring

You'll be monitored through regular visits with a congenital heart disease cardiologist. You should have an appointment with your cardiologist at least once a year. A typical evaluation generally includes a thorough review of complaints and symptoms, a physical exam, blood tests, and additional heart-health tests.

Medications

Medications are the primary treatment for Eisenmenger syndrome. You'll need to be monitored closely by a doctor when taking medications for any changes in blood pressure, fluid levels and your pulse rate.

Medications for Eisenmenger syndrome include:

  • Medications to control irregular heart rhythms. If you have an irregular heartbeat, you may receive medications to control your heart rhythms.
  • Iron supplements. Your doctor may prescribe iron supplements if your iron level is too low. But don't start taking iron supplements without talking to your doctor first.
  • Aspirin or other blood-thinning medications. If you have had a stroke, blood clot or certain types of irregular heart rhythms, your doctor may recommend aspirin or other blood thinners such as warfarin (Jantoven). However, people who have Eisenmenger syndrome are also at increased risk of bleeding when taking these medications, so don't take any blood thinners unless your doctor tells you to do so. Don't take over-the-counter pain medications, such as ibuprofen (Advil, Motrin IB, others) or naproxen sodium (Aleve, others), without talking to your doctor first.
  • Medication that relaxes blood vessel walls. Drugs called endothelin receptor antagonists are medications that reverse the effect of endothelin, a substance in the walls of blood vessels that causes them to narrow. One of these medications, bosentan (Tracleer), may improve your energy level and symptoms by lowering the resistance in your lung arteries. If you take bosentan, you'll need monthly liver monitoring because the drug can damage your liver.
  • Sildenafil and tadalafil. Sildenafil (Revatio, Viagra) and tadalafil (Cialis, Adcirca) are sometimes used to treat high blood pressure in your pulmonary arteries caused by Eisenmenger syndrome. These drugs work by opening the blood vessels in the lungs to allow blood to flow through more easily. Side effects include upset stomach, dizziness and vision problems.
  • Antibiotics. Depending on your condition, you may need to take antibiotics before having certain dental and medical procedures. These procedures may allow bacteria to enter your bloodstream. Antibiotics taken before these procedures can help destroy or control the harmful bacteria that may lead to an infection of your heart's tissues (endocarditis).

Surgeries or other procedures

If your red blood cell count becomes too high and is causing symptoms such as headache, difficulty concentrating or vision problems, your doctor may recommend having blood drawn to help decrease your blood cell counts. The blood draw procedure is called phlebotomy. It should not be done routinely and should only be done after consultation with a congenital heart disease expert. You should receive IV fluids when having blood drawn to help replace the lost fluids.

Some people who have Eisenmenger syndrome may eventually need a heart and lung transplant or a lung transplant with repair of the hole in the heart if other treatments don't control your symptoms.

Lifestyle and home remedies

If you're diagnosed with Eisenmenger syndrome, you can still lead an active life with proper treatment and precautions.

  • Avoid dehydration. Ask your doctor how much fluid you need each day. You may need more fluids if you're sick, in a heated room or traveling on an airplane.
  • Check with your doctor about exercise restrictions. While you shouldn't perform strenuous exercise or sports, you may be able to do less intense physical activities. Talk to your doctor about what type of physical activity is appropriate for you.
  • Avoid high altitudes. Because of the low oxygen levels at high altitudes, the American College of Cardiology and the American Heart Association recommend against living at an altitude of 5,000 feet (1,524 meters) or higher above sea level. Discuss travel by airplane or to high altitudes with your cardiologist for specific recommendations.
  • Avoid situations that can excessively lower blood pressure. These include sitting in a hot tub or sauna or taking long hot baths or showers. These activities lower your blood pressure and cause fainting or even death. You should also avoid activities that cause prolonged straining, such as lifting heavy objects or weights.
  • Be cautious with any medications and supplements. Many prescription and over-the-counter medications or supplements may increase or decrease blood pressure, increase risk of bleeding or blood clots, or affect kidney function in patients who have Eisenmenger syndrome. Talk to your doctor before taking any supplements or medications.
  • Get a flu shot. Avoiding infections is even more important for people with Eisenmenger syndrome. Experts recommend getting a flu shot every year and a pneumonia vaccination every five years.
  • Avoid secondhand smoke and quit using tobacco products. Cigarette smoke and other tobacco products can increases your risk of complications. It's important to avoid recreational drug use too.

Birth control and pregnancy

If you have Eisenmenger syndrome, becoming pregnant poses serious health risks — and can be life threatening — for the mother and baby. It's critical that women who have Eisenmenger syndrome avoid becoming pregnant.

Effective contraceptive methods include vasectomy for the male partner, or long-acting female contraception, including an intrauterine device (IUD) or a contraceptive hormonal implant such as Nexplanon. Tying of the fallopian tubes (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 women 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 only barrier methods, such as condoms or diaphragms, isn't recommended due to the risk of those methods failing.

Coping and support

Whether you or your child has been diagnosed with Eisenmenger syndrome, it's natural to worry, even after treatment. Although treatments can help your symptoms and improve your prognosis, you may feel stressed or nervous about your condition.

Here are a few things to keep in mind to help you cope with an Eisenmenger syndrome diagnosis and treatment:

  • Emotional difficulties. Being diagnosed with Eisenmenger syndrome is life-changing. You may need to alter your plans to have a family, and you may find yourself nervous that your condition will worsen.

    If your child has been diagnosed with Eisenmenger syndrome, he or she may feel insecure and may have emotional difficulties as he or she reaches school age. Talk to your doctor or your child's doctor about ways you can cope with these problems, which may include support groups, or a visit to a therapist or psychologist.

  • Developmental difficulties for children. Because some children who have congenital heart defects and Eisenmenger syndrome may have had a long recovery time from surgeries or procedures, they may developmentally lag behind other children their age. Some children's difficulties may last into their school years, and they may have difficulties learning to read or write, as well. Talk to your child's doctor about ways to help your child through his or her developmental difficulties.
  • Support groups. A serious medical problem for you or your child isn't easy and, depending on the severity of your condition, may be very difficult and frightening. You may find that talking with others who've been through the same situation brings you comfort and encouragement. Ask your doctor or your child's doctor if there are any local support groups.

Preparing for an appointment

If you are diagnosed with Eisenmenger syndrome, you'll be referred to a heart specialist (cardiologist). It's important to find a cardiologist who has experience treating people who have congenital heart defects.

The symptoms of Eisenmenger syndrome, such as blue or grayish skin color (cyanosis) and shortness of breath, are serious. Even if you haven't been diagnosed with a heart defect previously, these symptoms require prompt medical attention.

Because Eisenmenger syndrome is a complicated condition and because there's often a lot to discuss, it's a good idea to be prepared for your appointment. Here's some information to help you get ready for your appointment, and what to expect from your doctor.

What you can do

  • Make note of any previous heart treatments. Because Eisenmenger syndrome most often develops as a complication of a heart defect, it's important that your doctor knows about any medications you've taken or surgeries or procedures you've had if you've been previously diagnosed with a heart defect.
  • Be aware of any pre-appointment restrictions. At the time you make the appointment, be sure to ask whether there's anything you need to do in advance, such as fill out forms or restrict your diet. For some imaging tests, for example, you may need to fast for a period of time beforehand.
  • Write down any symptoms you're experiencing, including any that may seem unrelated to Eisenmenger syndrome. Try to recall when they began. Be specific, such as days, weeks, months, and try to avoid vague terms such as "some time ago."
  • Write down key personal information, including a family history of 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 medications, as well as any vitamins or supplements that you're taking. Also, be sure to tell your doctor if you've recently stopped taking any medications.
  • Take a family member or friend along, if possible. Sometimes it can be difficult to remember all the information provided to you during an appointment. Someone who accompanies you may remember something that you missed or forgot.
  • Write down questions to ask your doctor.

Your time with your doctor may be limited, so preparing a list of questions 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 your doctor include:

  • What are other possible causes for my symptoms or condition?
  • What kinds of tests will I need?
  • What treatment will I need?
  • What's an appropriate level of physical activity?
  • How often do I need to follow up with you?
  • I have other health conditions. How can I best manage them together?
  • Are there any restrictions that I need to follow?
  • 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?

In addition to the questions you've prepared to ask your doctor, don't hesitate to ask additional questions during your appointment.

What to expect from your doctor

Your doctor is likely to ask you a number of questions. Being ready to answer them may reserve time to go over any points you want to spend more time on. Your doctor may ask the following questions:

  • Have you previously been diagnosed with a heart defect or pulmonary hypertension? If so, what treatments did you have for your condition?
  • Has one of your doctors ever said you had a heart murmur, but didn't pursue a diagnosis? If so, when was this?
  • When did you first begin experiencing symptoms?
  • Have your symptoms been continuous or occasional?
  • How severe are your symptoms?
  • What, if anything, seems to improve your symptoms?
  • Does anything make your symptoms worse?

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