Eisenmenger syndrome

Causes

Eisenmenger syndrome is caused by a defect in the heart. Most often, babies with this condition are born with a hole between the two pumping chambers -- the left and right ventricles -- of the heart (ventricular septal defect). The hole allows blood that has already picked up oxygen from the lungs to flow back into the lungs, instead of going out to the rest of the body.

Other heart defects that can lead to Eisenmenger syndrome include:

• Atrioventricular canal defect
• Atrial septal defect
• Cyanotic heart disease
• Patent ductus arteriosus
• Truncus arteriosus

Over time, 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, allowing oxygen-poor blood to travel to the rest of the body.

Eisenmenger syndrome usually develops before a child reaches puberty. However, it also can develop in young adulthood.

Symptoms

• Bluish lips, fingers, toes, and skin (cyanosis)
• Chest pain
• Coughing up blood
• Dizziness
• Fainting
• Feeling tired
• Shortness of breath
• Stroke
• Swelling in the joints caused by too much uric acid (gout)

Exams and Tests

The doctor will examine the child. During the exam, the doctor may find:

• Abnormal heart rhythm (arrhythmia)
• Enlarged ends of the fingers or toes (clubbing)
• Heart murmur (an extra sound when listening to the heart)

The doctor will diagnose Eisenmenger syndrome by looking at the patient's history of heart problems. Tests may include:

• Complete blood count (CBC)
• Chest x-ray
• MRI scan of the heart
• Putting a thin tube in an artery to view the heart and blood vessels and measure pressures (cardiac catheterization)
• Test of the electrical activity in the heart (electrocardiogram)
• Ultrasound of the heart (echocardiogram)

The number of cases of this condition in the United States has dropped because doctors are now able to diagnose and correct the defect sooner, before the irreversible damage to the small lung arteries occurs.

Treatment

Older children with symptoms 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.

Outlook (Prognosis)

How well the infant or child does depends on whether another medical condition is present, and the age at which high blood pressure develops in the lungs. Patients with this condition can live 20 to 50 years.

Possible Complications

• Bleeding (hemorrhage) in the brain
• Congestive heart failure
• Gout
• Heart attack
• Hyperviscosity (sludging of the blood because it is too thick with blood cells)
• Infection (abscess) in the brain
• Kidney failure
• Poor blood flow to the brain
• Stroke
• Sudden death

When to Contact a Medical Professional

Call your health care provider if your infant develops symptoms of Eisenmenger syndrome.

Prevention

Alternative Names

Eisenmenger complex; Eisenmenger disease; Eisenmenger reaction; Eisenmenger physiology

References

Bernstein D. Pulmonary vascular disease (Eisenmenger syndrome). In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 19th ed. Philadelphia, Pa: Saunders Elsevier;2011:chap 427.2.

Update Date: 2/7/2012

Updated by: Neil K. Kaneshiro, MD, MHA, Clinical Assistant Professor of Pediatrics, University of Washington School of Medicine; and Michael A. Chen, MD, PhD, Assistant Professor of Medicine, Division of Cardiology, Harborview Medical Center, University of Washington Medical School, Seattle, Washington. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.