What are the other Names for this Condition? (Also known as/Synonyms)

• Eisenmenger Physiology
• Eisenmenger's Reaction
• Tardive Cyanosis

What is Eisenmenger Syndrome? (Definition/Background Information)

• Eisenmenger Syndrome is a rare progressive heart condition caused by a structural error in the heart, typically a "hole in the heart" (ventricular septal defect) present at birth (congenital heart defect)
• This causes abnormal blood flow in the heart, resulting in high pressure within the pulmonary artery, the main blood vessel that connects the heart to the lungs (pulmonary hypertension)

(Source: Eisenmenger Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

Who gets Eisenmenger Syndrome? (Age and Sex Distribution)

• Eisenmenger Syndrome is a rare congenital disorder. The presentation of symptoms may occur at birth
• Both males and females may be affected
• Worldwide, individuals of all racial and ethnic groups may be affected

What are the Risk Factors for Eisenmenger Syndrome? (Predisposing Factors)

• A positive family history may be an important risk factor, since Eisenmenger Syndrome is an inherited condition
• Currently, no risk factors have been clearly identified for ES

It is important to note that having a risk factor does not mean that one will get the condition. A risk factor increases one’s chances of getting a condition compared to an individual without the risk factors. Some risk factors are more important than others.

Also, not having a risk factor does not mean that an individual will not get the condition. It is always important to discuss the effect of risk factors with your healthcare provider.

What are the Causes of Eisenmenger Syndrome? (Etiology)

• Eisenmenger Syndrome is caused by a defect in the heart. Most often, the defect is one called a ventricular septal defect (VSD), a hole between the two pumping chambers (the left and right ventricles) of the heart
• Other heart defects that can lead to Eisenmenger Syndrome include atrial septal defect (ASD) and patent ductus arteriosus (PDA)
• The hole allows blood that has already picked up oxygen from the lungs to flow abnormally back into the lungs, instead of going out to the rest of the body. Over time, this increased blood flow can damage the small blood vessels in the lungs. This causes high blood pressure in the lungs
• As a result, the blood backs up and does not go to the lungs to pick up oxygen. Instead, the blood goes from the right side to the left side of the heart, and oxygen-poor blood travels to the rest of the body

(Source: Eisenmenger Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

What are the Signs and Symptoms of Eisenmenger Syndrome?

The signs and symptoms of Eisenmenger include:

• Shortness of breath
• Chest pain
• Feeling tired or dizzy
• Fainting
• Abnormal heart rhythm (arrhythmia)
• Stroke
• Coughing up blood
• Swelling of joints from excess uric acid (gout)
• Bluish lips, fingers, toes, and skin (cyanosis)

Eisenmenger Syndrome usually develops before a child reaches puberty but can also develop in young adulthood.

(Source: Eisenmenger Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How is Eisenmenger Syndrome Diagnosed?

Eisenmenger Syndrome is diagnosed on the basis of the following information:

• Complete physical examination
• Thorough medical history evaluation
• Assessment of signs and symptoms
• Laboratory tests
• Imaging studies
• Biopsy studies, if necessary

Many clinical conditions may have similar signs and symptoms. Your healthcare provider may perform additional tests to rule out other clinical conditions to arrive at a definitive diagnosis.

What are the possible Complications of Eisenmenger Syndrome?

The complications of Eisenmenger Syndrome may include:

• Immobility of joints
• Heart and brain abnormalities

Complications may occur with or without treatment, and in some cases, due to treatment also.

How is Eisenmenger Syndrome Treated?

• Older children with symptoms of Eisenmenger Syndrome may have blood removed from the body (phlebotomy) to reduce the number of red blood cells, and then receive fluids to replace the lost blood (volume replacement)
• Children may receive oxygen, although it is unclear whether it helps to prevent the disease from getting worse
• Children with very severe symptoms may need a heart-lung transplant
• Adult patients with Eisenmenger Syndrome should be seen by a cardiologist specializing in the care of adults with congenital heart disease

(Source: Eisenmenger Syndrome; Genetic and Rare Diseases Information Center (GARD) of National Center for Advancing Translational Sciences (NCATS), USA.)

How can Eisenmenger Syndrome be Prevented?

• Currently, Eisenmenger Syndrome may not be preventable, since the cause of the disorder is not well-established
• Regular medical screening at periodic intervals with tests and physical examinations are recommended

What is the Prognosis of Eisenmenger Syndrome? (Outcomes/Resolutions)

• The prognosis of Eisenmenger Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any
• Individuals with mild conditions have better prognosis than those with severe symptoms and complications
• Typically, the prognosis may be assessed on a case-by-case basis

Additional and Relevant Useful Information for Eisenmenger Syndrome:

Eisenmenger Syndrome may also be known as: ES (Eisenmenger Syndrome)

The following DoveMed website link is a useful resource for additional information:

http://www.dovemed.com/diseases-conditions/rare-disorders/