Eisenmenger's Syndrome

Symptoms

Symptoms occur because of low oxygen levels in the blood and because the right heart may enlarge and ultimately fail as it pumps at a much higher pressure than normal. Cyanosis, clubbing of the fingers, and increased red blood cells (erythrocytosis) are all signs of the body's response to decreased oxygen saturation in the blood.

Symptoms include:

• Breathlessness on effort
• Fatigue
• Palpitations
• Chest pain
• Fainting
• Coughing up blood (hemoptysis)

Right-heart failure (inability of the heart muscle to maintain adequate forward blood flow to meet the body's demand) and often tricuspid valve regurgitation appear in the later stages of the syndrome. The tricuspid valve (valve between the right atrium and right ventricle) will start to leak blood backward (regurgitation) as the right ventricle enlarges and stretches apart the valve leaflets. The workload on the heart increases as it tries to maintain forward blood flow.

Rhythm disturbances such as atrial fibrillation are also common and decrease the overall performance of the heart. Rhythm disturbances should be evaluated and treated promptly.

Cyanosis is a term for the blue tinge to the skin (especially the lips, fingertips and toes) that is present when the oxygen level in the circulating blood is low. In Eisenmenger's syndrome, cyanosis is usually progressive.

An increase in red blood cells (erythrocytosis)
Red blood cells (RBCs or erythrocytes) transport oxygen to the body's tissues. They contain iron that is necessary for oxygen transport. When oxygen is lacking, the body compensates by making more RBCs to carry more oxygen. An increased number of RBCs (erythrocytosis) is a normal response in someone who is blue or cyanotic, and is measured by the amount of hemoglobin in the blood.

The normal hemoglobin value for an adult male is between 13.5 and 17.5 grams per deciliter; for an adult female it is between 12.0 and 15.5 grams per deciliter. In a person with Eisenmenger's syndrome, hemoglobin values as high as 18 to 20 grams per deciliter are common and acceptable. If the hemoglobin gets higher than 20 grams per deciliter, too many RBCs in the blood circulation may cause the blood to become more viscous or sticky, perhaps resulting in headache and poor concentration.

Stroke
In Eisenmenger's syndrome, two major abnormalities increase the risk of stroke. First, the right-to-left shunt can allow air bubbles, bacteria and small blood clots that normally would be "filtered out" of the bloodstream in the lungs, direct access to the arterial circulation of the brain. Second, the very high hemoglobin levels associated with too many RBCs may promote clot formation (much like pebbles sludging in a stream).

Bleeding disorders
Unlike RBCs, platelet numbers are often reduced. Platelets are special blood cells that help blood to clot.

Special proteins in the blood called clotting factors may also be decreased. Clotting factors stimulate the chain of events that causes a blood clot to form. Low platelets and abnormal clotting factors may increase the risk of acute bleeding. The paradox in Eisenmenger's syndrome, therefore, is that patients are at risk both for blood clotting and bleeding. Medications that influence blood clotting should be monitored closely.

Iron deficiency anemia
A low level of iron reduces the red blood cells' capacity to carry oxygen, decreasing a person's exercise capacity and increasing fatigue. As the number of red blood cells (hemoglobin) increases, the amount of iron should also increase.

An iron deficiency anemia can also cause the red blood cells to become rigid. A red blood cell must be flexible to squeeze through the body's tiny arteries (capillaries). If the RBC cannot "wiggle" through the tiny arteries, a blood clot may form. The brain has an abundance of tiny capillaries and is especially vulnerable to clot formation, which may cause a stroke.

Hemoptysis
The medical term for coughing up blood, hemoptysis is related to abnormal lung vessels, increased pressure in the lungs, and abnormal clotting factors. Coughing up blood should never be ignored in the patient with Eisenmenger's syndrome. It could indicate the presence of a lung infection, active bleeding or pulmonary clot, which can damage lung tissue and increase pulmonary hypertension. It is important that hemoptysis be evaluated by a physician.

Kidney (renal) function
The kidneys of people with Eisenmenger's syndrome may not work properly because of chronic low oxygen levels. Dehydration, contrast dye, and some medications can permanently damage kidney function (e.g., cardiac catheterization and noncardiac surgery). Special care must be taken in situations where these risks are present. Gout can result from the kidneys' inability to effectively clear waste products from the blood.

Arrhythmia
Irregular heart rhythms or arrhythmia result when the heart, especially the right-heart chambers, become enlarged — particularly if the heart muscle is not receiving enough oxygen. Atrial fibrillation and atrial flutter are two common types of rhythm disturbances that occur in Eisenmenger's syndrome.

Irregular heart rhythms will decrease the function of the heart and can cause heart failure. Palpitations, dizziness and fainting can be symptoms of an arrhythmia and should be evaluated promptly.

The ventricular muscle may also become irritable under the stress of high workload and low oxygen. This can cause ventricular rhythm disturbances called ventricular tachycardia or ventricular fibrillation. These arrhythmias are life threatening. Chest pain (angina) may also be caused by decreased levels of oxygen reaching the heart muscle.