Eisenmenger Syndrome

Eisenmenger syndrome is a three-stage syndrome that begins with a heart defect present at birth (congenital defect). Although it can sometimes be detected in newborns, it frequently does not cause any symptoms until adulthood.

Eisenmenger syndrome is the result of one or more specific congenital defects that cause high blood pressure in the lungs (pulmonary hypertension). This condition, in turn, eventually causes oxygen-poor blood to shift through a cardiac defect into circulation. In its more advanced stages, it often causes a bluish tint (cyanosis) to the skin and other parts of the body.

Identified in 1897, Eisenmenger syndrome is a progressive syndrome that begins with the presence of a heart defect at birth (congenital heart defect). It has three distinct phases. First, the congenital heart defect allows oxygen-rich blood on the left side of the heart to mix with oxygen-poor blood on the right side of the heart. This is called a left-to-right shunt, and it occurs because the blood pressure is naturally higher on the left side of the heart. If there is an abnormal connection between the right and left side then blood will be pushed across to the right side of the heart. The heart defect that allows this mixing of blood may be one of the following:

  • Ventricular Septal Defect (VSD) – Most commonly, a patient with Eisenmenger syndrome has a hole in the wall (septum) between the lower chambers of the heart (ventricles). This hole is known as a VSD. Oxygen–rich blood can travel through the VSD from the left ventricle into the right ventricle, where it mixes with oxygen–poor blood.
  • Patent Ductus Arteriosus (PDA) – In some cases, a prenatal blood vessel that should close soon after birth (ductus arteriosus) remains open or patent. This patent ductus arteriosus allows oxygen–rich blood to travel from the left side of the heart through the aorta and into the pulmonary artery, which normally carries only oxygen–poor blood to the lungs.
  • Atrial Septal Defect (ASD) – A patient with Eisenmenger syndrome may also have a hole in the wall (septum) between the upper chambers of the heart (atria). This hole is known as an ASD. Oxygen–rich blood can travel through the ASD from the left atrium into the right atrium, where it mixes with oxygen–poor blood.

Other heart defects (e.g., single ventricle) are very rarely associated with Eisenmenger syndrome.

The second phase of Eisenmenger’s is related to the higher volume of blood in the lungs caused by the left-to-right shunt. This leads to an increase of blood pressure in the lungs, a condition known as pulmonary hypertension.

The third phase of pulmonary hypertension occurs when the blood pressure in the lungs becomes great enough to reverse the left-to-right shunt. Oxygen poor blood begins flowing from the right side of the heart to the left side of the heart, where it mixes with oxygen-rich blood and is pumped out to the body.

Symptoms associated with Eisenmenger’s syndrome may develop very slowly, over the course of years, depending on how large the communication is between the right and left sides of the heart. One of the first symptoms visible may be a bluish tint to the skin, lips, fingernails or other areas of the body (cyanosis). However, additional symptoms may be caused by the pulmonary hypertension, including arrhythmias and even heart failure.

The long-term outlook for patients with Eisenmenger syndrome depends on the severity of their disease. Some studies have reported that patients often die of progressive heart disease, sudden cardiac death or heart failure by age 40. However, some patients have lived into their 60s.

One sign of Eisenmenger syndrome is a bluish tint (cyanosis) to the skin, lips, fingernails and other parts of the body. Other signs of a lack of oxygen-rich blood among infants include the following:

  • Becoming easily fatigued, especially during crying spells and at feeding time
  • Low tolerance for extra exertion
  • Shortness of breath (dyspnea) and/or rapid breathing
  • Fainting (syncope)
  • Difficulty eating, breathing or sucking
  • Poor weight gain
  • Slow growth or other physical retardation
  • Heart murmur, as detected by a physician

Additional signs and symptoms may be related to the development of pulmonary hypertension. These might include breathlessness, fatigue, swelling, chest pain, and symptoms consistent with right heart failure.

Some patients may also develop a problem with one of their heart valves called tricuspid regurgitation. This is a condition in which the tricuspid valve located between the right atrium and the right ventricle cannot close properly, allowing blood to leak back into the right atrium. Mild tricuspid regurgitation may not show any signs, but it could lead to more serious problems, such as heart failure.

Other problems that could develop as the syndrome progresses include the following:

  • Abnormal heart rhythm (arrhythmia), such as atrial fibrillation (which can increase the risk of stroke) or atrial flutter
  • Iron deficiency (anemia)
  • Formation of blood clots
  • Abnormally high number of red blood cells
  • Coughing up blood, or other signs of abnormal bleeding
  • Kidney disease
  • Sudden cardiac death

The diagnosis of Eisenmenger syndrome begins with a complete medical history and physical examination. A number of tests may then be ordered, which generally include: Blood tests, Pulse Oximetry, Electrocardiogram (EKG), Echocardiogram, Chest x-ray and/or Computed Tomography (CT) Scan.

In some cases, more invasive tests may be needed in order to confirm a diagnosis. These include the following:

  • Transesophageal Echocardiogram – A test that uses ultrasound via a flexible transducer placed down the throat and into the esophagus to create images of the heart function and blood flow.
  • Cardiac Catheterization – A common, minimally invasive test in which a physician inserts a small tube called a catheter into a patient’s blood vessel and passes the tube toward the heart. The test can measure pressures in the heart and pulmonary artery, and is often used to confirm the diagnosis of Eisenmenger sydrome.
  • Lung biopsy – Rarely, a tissue sample of the lung may need to be taken for analysis. However, the risks of this procedure often outweigh its potential benefits.

Eisenmenger syndrome is usually treated with lifestyle changes and sometimes medication. A number of precautions are advised for patients with Eisenmenger syndrome. First, patients are urged to adopt heart–healthy lifestyle choices, such as not smoking. Other specific recommendations include:

  • Remain in close contact with a medical team that includes a cardiologist.
  • Take antibiotics before any dental, medical or surgical procedure to reduce the risk of a potentially fatal infection called bacterial endocarditis.
  • Exercise regularly but not too strenuously. Exercise helps to keep the cardiovascular system functioning as efficiently as possible.
  • Avoid saunas, steam rooms, hot tubs, long hot baths or other situations that could cause a sudden drop in blood pressure.
  • Avoid high altitudes. Patients who choose to travel by airplane are encouraged to speak with their physician about bringing extra oxygen with them.
  • Avoid dehydration.
  • Avoid pregnancy. Pregnant women with Eisenmenger syndrome have a 30 to 50 percent chance of dying during the pregnancy or within the first week after childbirth. The unborn child is also at great risk. Because birth control pills tend to carry greater risks for women with Eisenmenger syndrome, physicians generally recommend tubal ligation.
  • Have any necessary surgery at a facility that specializes in heart-related conditions. A special type of anesthesia should be used.

Medications are often prescribed for patients with Eisenmenger syndrome to help maintain a normal heart rhythm, reduce pulmonary hypertension and to strengthen the weakened heart muscle. If heart failure has developed, then medications will also be prescribed to treat its symptoms (e.g., swelling in the lower legs).

Iron supplements may be prescribed if the patient is diagnosed with iron deficiency (anemia). Patients need close medical follow-up during treatment. A procedure called therapeutic phlebotomy may be performed if the patient’s number of red blood cells becomes excessively high. The procedure is performed to reduce the thickness and possible “sludging” of the blood.

Currently, a surgery has not been developed to reverse the effects of Eisenmenger syndrome. In extreme cases, a patient may be appropriate for a heart-lung transplant, which is a combination of a heart transplant and lung transplant. Although this surgery is performed less than 50 times in the United States each year, Eisenmenger syndrome is the condition most often responsible for having the surgery done.

Some patients may also qualify for a lung transplant and a repair of the defect that is causing the mixing of oxygen-rich and oxygen–poor blood. The type of surgery recommended usually depends on the severity of the underlying heart defects.

Prevention strategies have not been developed for Eisenmenger syndrome because the cause has not yet been identified.

Source: Your Total Health, 02-22-2007

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