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:

  • Electrocardiogram (ECG). This test records the electrical activity of the heart through electrodes attached to the skin. This test helps diagnose heart defects that cause Eisenmenger syndrome.
  • Chest X-ray. Your doctor may order a chest X-ray to look for heart and pulmonary artery enlargement.
  • Echocardiogram. During an echocardiogram (ultrasound of the heart), sound waves create detailed images of your heart. This allows doctors to see the structure of your heart and blood flow through your heart to look for heart defects.
  • 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.
  • 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, which uses no X-rays, is sometimes used to get images of the blood vessels in your lungs. A computer creates tissue "slices" from data generated by 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, the pressures across the defect, and the amount of blood in your heart and lungs.

    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, and any surgery may be life-threatening. It's important that you're treated by 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, and blood tests.

Medications

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

Medications for Eisenmenger syndrome include:

  • Medications to control arrhythmias. If you have an arrhythmia, you may receive medications to control your heart rhythms.
  • Iron supplements. Your doctor may prescribe iron supplements if he or she finds your iron level is too low. 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 (Coumadin, 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 (Aleve, others), without talking to your doctor first.

  • Endothelin receptor antagonists. These medications 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).

    Antibiotics are recommended only before certain dental procedures (those that cut your gum tissue or part of the teeth) and procedures involving the respiratory tract, infected skin or tissue that connects muscle to bone.

Blood drawing (phlebotomy)

If your red blood cell count becomes too high and is causing symptoms such as headache, difficulty concentrating or visual disturbances, your doctor may recommend having blood drawn to help decrease your blood cell counts. Phlebotomy should not be done routinely and should only be performed after consultation with a congenital heart disease expert. You should also receive intravenous (IV) fluids when having blood drawn to help replace the lost fluids.

Heart-lung transplantation

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 no other treatments prove effective.

Birth control and pregnancy

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

Your doctor may recommend nonreversible birth control, such as Essure. Essure is a metal coil inserted through the vagina into the fallopian tubes that causes scar tissue to develop. This blocks the fallopian tubes.

Having your fallopian tubes tied (tubal ligation) is less often recommended due to the risks of having even minor surgery.

Birth control pills containing estrogen aren't recommended for women who have Eisenmenger syndrome. Estrogen increases your risk of developing blood clots that could potentially block an artery to your heart, brain or lungs. Using only barrier methods, such as condoms or diaphragms, isn't recommended due to the risk of those methods failing.

Lifestyle and home remedies

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

  • 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.
  • Avoid secondhand smoke and quit using tobacco products. Cigarette smoke and other tobacco products can cause further damage to your lungs' arteries and increase your risk of developing complications.

Coping and support

Whether you or your child has been diagnosed with Eisenmenger syndrome, it's natural to worry about health concerns, 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 your appointment

If you are diagnosed with Eisenmenger syndrome, you'll be referred to a heart specialist (cardiologist). It's important for you 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 is limited, so preparing a list of questions will 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 should I be screened for changes in my condition?
  • What are the alternatives to the primary approach that you're suggesting?
  • I have other health conditions. How can I best manage them together?
  • Are there any restrictions that I need to follow?
  • Could you recommend a specialist who has experience treating Eisenmenger syndrome?
  • Is there a generic alternative to the medicine you're prescribing?
  • 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 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?
  • What, if anything, appears to worsen your symptoms?