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Eisenmenger Syndrome

What is Eisenmenger syndrome?

Eisenmenger syndrome is a condition that includes a collection of symptoms: cyanosis (pale blue or grayish skin due to decreased oxygen in the blood), pulmonary hypertension (high blood pressure in the blood vessels of the lungs), and erythrocytosis (increased number of red blood cells in the blood due to decreased oxygen in the blood).

Eisenmenger syndrome primarily affects adolescents and adults with certain congenital heart defects that are repaired late (after the first year of life) or that are never repaired. Eisenmenger syndrome, however, can occur in infants or children born with pulmonary hypertension; therefore, symptoms related to cyanosis may occur much earlier in life.

What causes Eisenmenger syndrome?

Eisenmenger syndrome progresses over time as a result of the effects of high blood pressure in the lungs. This high blood pressure, or pulmonary hypertension, occurs because of congenital heart defects that cause blood flow from the left side of the heart to the right side of the heart (left-to-right shunt). Congenital heart defects of this type include:

  • Patent ductus arteriosus (PDA). A connection between the aorta and the pulmonary artery which allows oxygen-rich (red) blood that should go to the body to recirculate through the lungs.

  • Atrial septal defect (ASD). An opening in the atrial septum, or dividing wall between the two upper chambers of the heart known as the right and left atria.

  • Ventricular septal defect (VSD). An opening in the ventricular septum, or dividing wall between the two lower chambers of the heart known as the right and left ventricles.

  • Atrioventricular canal defect (AV canal). A complex heart problem that involves several abnormalities of structures inside the heart, including an ASD, VSD, and improperly formed mitral and/or tricuspid valves.

Because the pressures within the left side of the heart are normally greater than those within the right side of the heart, an opening between the left and right side of the heart will cause blood to flow from the left side of the heart into the right side. This left-to-right shunting of blood within the heart causes increased blood flow in the blood vessels of the lungs. The increased blood flow in the lungs’ blood vessels causes increased pressure in these vessels (pulmonary hypertension).

If the pulmonary hypertension continues without treatment, the pressure in the right side of the heart may increase to the point that the right side pressure is greater than the left. When this occurs, blood will flow from the right side of the heart to the left (right-to-left shunt), which means that oxygen-poor blood is mixed with the oxygen-rich blood pumped out to the body from the left ventricle.

A reversal of the shunt resulting in a right-to-left shunt causes insufficient oxygen in the blood. In addition, high pressure in the lungs causes progressive changes in the pulmonary blood vessels which result in irreversible damage to the lining of these blood vessels. Fibrosis (the growth of scar tissue due to infection, inflammation, injury, or even healing), and thrombus (clotting) may also occur. The changes inside the lung blood vessels may be referred to as pulmonary vascular obstructive disease or secondary pulmonary arterial hypertension (PAH). 

What are common symptoms or complications of Eisenmenger syndrome?

Symptoms:

  • Cyanosis (pale blue or grayish skin due to decreased oxygen in the blood)

  • Dyspnea on exertion (shortness of breath with activity)

  • Shortness of breath at rest

  • Fatigue

  • Chest pain or chest tightness

  • Heart palpitations ("skipping beats or racing”)

  • Headache

  • Dizziness or syncope (fainting)

  • Paresthesias (numbness and/or tingling of fingers and toes)

  • Blurred vision

Complications:

  • Blood clots (for example, deep vein thrombosis in extremities)

  • Hemorrhage (bleeding)

  • Stroke

  • Brain abscesses

  • Gout

Worsening of symptoms or new onset complications can be early warning signs of changes in overall condition and should be evaluated by your doctor as soon as possible.

The symptoms of Eisenmenger syndrome may resemble other medical conditions or heart problems. Always consult your doctor for a thorough evaluation.

How is Eisenmenger syndrome diagnosed?

A child or adolescent with a history of an atrial septal defect (ASD), ventricular septal defect (VSD), patent ductus arteriosus (PDA), or atrioventricular canal defect (AV canal) that has been unrepaired or repaired after one year of age is at risk for developing Eisenmenger syndrome.

The doctor may note a change or increase in intensity of a cardiac murmur (a blowing or rasping sound heard while listening to the heart that may or may not indicate problems within the heart or circulatory system) during a routine physical examination. Complaints of change in exercise tolerance or any associated shortness of breath, chest pain, or palpitations, especially with activity, should be reported to the doctor for further investigation.

The doctor will perform a physical examination, listening to the heart and lungs, and make other observations that help in the diagnosis. Other tests that may be performed to help with the diagnosis include the following:

  • Blood tests. Tests to evaluate for an elevated red blood cell count (erythrocytosis) and anemia.

  • Chest X-ray. A diagnostic test which uses invisible X-ray energy beams to produce images of internal tissues, bones, and organs onto film. There may be changes that take place in the lungs due to extra blood flow that can be seen on an X-ray.

  • Electrocardiogram (ECG or EKG). A test that records the electrical activity of the heart, shows abnormal rhythms (arrhythmias or dysrhythmias), and detects heart muscle stress.

  • Echocardiogram (echo). A procedure that evaluates the structure and function of the heart by using sound waves recorded on an electronic sensor that produce a moving picture of the heart and heart valves. An echo can show the pattern of blood flow through the PDA, and determine how large the opening is, as well as how much blood is passing through it.

  • Cardiac catheterization. A cardiac catheterization is an invasive procedure that gives very detailed information about the structures inside the heart. Under sedation, a small, thin, flexible tube (catheter) is inserted into a blood vessel in the groin, and guided to the inside of the heart. Right Heart Cath: pressure and oxygen measurements are taken in the four chambers of the heart, as well as the pulmonary artery and aorta. Left Heart Cath: contrast dye may also be injected to more clearly visualize the blood flow and structures inside the heart. 

  • Magnetic resonance imaging (MRI). A diagnostic procedure that uses a combination of large magnets, radiofrequencies, and a computer to produce detailed images of organs and structures within the body. MRI may be used to aid in estimating pulmonary artery pressures in the lungs and to clarify any blood shunting.  

Treatment for Eisenmenger syndrome

Specific treatment for Eisenmenger syndrome will be determined by your doctor based on:

  • Your age, overall health, and medical history

  • Rate of progression and extent of the disease

  • Tolerance for specific medications, procedures, or therapies

  • Expectations for the course of the disease

  • Personal opinion or preference

The goals of treatment for Eisenmenger syndrome are aimed at decreasing the pulmonary artery pressure, improving oxygenation, and decreasing degree of cyanosis and erythrocytosis. Treatment methods may include, but are not limited to, the following:

  • Medical treatment. Medical treatment for Eisenmenger syndrome is based on symptoms. Types of medical treatments include:

    • Medications. Medications that help to decrease pulmonary hypertension may be prescribed. These medications include calcium channel blockers, prostacyclin, and endothelin receptor antagonists, and work to dilate blood vessels which helps to lower the blood pressure in the lungs. If right heart failure develops, diuretics (water pills) may be prescribed to help decrease blood volume.

    • Oxygen. Supplemental oxygen may be used during sleep periods or while resting. Use of oxygen may progress to continuous use for symptom relief.

    • Phlebotomy. Phlebotomy (removal of blood) should not be done frequently, but may be recommended when erythrocytosis causes hyperviscosity (extreme thickness) of the blood. The volume of the blood removed is replaced with intravenous (IV) saline solution to thin the blood. Phlebotomy is generally done only when symptoms are severe and/or the hematocrit (the percentage of blood that is made up of red blood cells) becomes extremely elevated.

  • Other treatments. Eisenmenger syndrome that develops as a result of a congenital heart defect that was never repaired is generally not treated by repairing the original defect, as it would increase the workload on the right ventricle and lead to a poor outcome. Lung transplantation or heart-lung transplantation may be performed when other treatments are no longer effective.

Long-term outlook with Eisenmenger syndrome

Some individuals with Eisenmenger syndrome who have no other health complications may live into middle adulthood, and a few may survive into the fifth or sixth decade of life.

Considerations related to Eisenmenger syndrome include, but are not limited to, the following:

  • Pregnancy is not recommended for females of child-bearing age with Eisenmenger’s syndrome. Pregnancy may pose a high risk of death for the mother as well as complications for the fetus due to effects of low oxygen levels in the blood.

  • Any anesthesia and surgery is considered high risk and should be carefully planned. Collaboration with a cardiac specialist is recommended.

  • Air travel and high altitude exposure requires adequate hydration (fluid intake) and supplemental oxygen to prevent complications.

  • Severe headache, dizziness, syncope (fainting), or changes in level of consciousness should be taken seriously and evaluated emergently.

  • Smoking and alcohol intake are not recommended.

  • Coughing should be controlled or prevented with a strong suppressant medication to prevent risk of pulmonary hemorrhage (bleeding from the lungs).

  • Flu shots are recommended annually, and pneumococcal vaccine should be received according to the doctor’s recommendation.

Consult your doctor regarding the specific long-term outlook for your child, teen, or young adult with Eisenmenger syndrome.

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