Eisenmenger's syndrome is a complication of uncorrected congenital heart anomalies that cause left-to-right shunting. Increased pulmonary resistance may develop over time, reversing left-to-right shunting to right-to-left shunting. Deoxygenated blood enters the systemic circulation, causing symptoms of hypoxia. Murmurs and heart sounds depend on the underlying anomaly. Diagnosis is by echocardiography or cardiac catheterization. Treatment is generally supportive, but heart and lung transplantation may be an option when symptoms are severe. Endocarditis prophylaxis is recommended.

Congenital heart anomalies that, if untreated, result in Eisenmenger's syndrome include

• Ventricular septal defect
• Atrioventricular canal defect
• Atrial septal defect
• Patent ductus arteriosus
• Persistent truncus arteriosus
• Transposition of the great arteries

In the US, the incidence has markedly decreased because of early diagnosis and definitive repair of the causative anomaly.

Right-to-left shunting due to Eisenmenger's syndrome results in cyanosis and its complications. Systemic desaturation leads to clubbing of fingers and toes, secondary polycythemia, hyperviscosity, hemoptysis, CNS events (eg, brain abscess or cerebrovascular accident), and sequelae of increased RBC turnover (eg, hyperuricemia causing gout, hyperbilirubinemia causing cholelithiasis, iron deficiency with or without anemia).

Symptoms and Signs

Symptoms usually do not occur until age 20 to 40 yr; they include cyanosis, syncope, dyspnea during exertion, fatigue, chest pain, palpitations, atrial and ventricular arrhythmias, and rarely right heart failure (eg, hepatomegaly, peripheral edema, jugular venous distention).

Hemoptysis is a late symptom. Signs of cerebral embolic phenomena, brain abscess, or endocarditis may develop.

Secondary polycythemia commonly causes symptoms (eg, transient ischemic attacks with slurred speech or other neurologic symptoms, visual problems, headaches, increased fatigue, signs of thromboembolism). Abdominal pain may result from cholelithiasis.

Physical examination detects central cyanosis and digital clubbing. Rarely, signs of right ventricular failure (see Congenital Cardiovascular Anomalies: Heart failure) may be present. A holosystolic murmur of tricuspid regurgitation may be present at the lower left sternal border. An early diastolic, decrescendo, high-pitched murmur of pulmonary insufficiency may be audible along the left sternal border. A loud, single 2nd heart sound (S₂) is a constant finding; an ejection click is common. Scoliosis is present in about one third of patients.

Diagnosis

• Chest x-ray and ECG
• Echocardiography or cardiac catheterization

Diagnosis is suspected by history of uncorrected cardiac anomalies, supported by chest x-ray and ECG, and established by 2-dimensional echocardiography with color flow and Doppler studies or cardiac catheterization.

Laboratory testing shows polycythemia with Hct > 55%. Increased RBC turnover may be reflected as an iron deficiency state (eg, microcythemia), hyperuricemia, and hyperbilirubinemia.

Chest x-ray usually shows prominent central pulmonary arteries, peripheral pulmonary vessel pruning, and right heart enlargement. ECG shows right ventricular hypertrophy, right axis deviation, and, occasionally, right atrial enlargement.

Treatment

• Drugs to lower pulmonary artery pressure (eg, prostacyclin antagonists, endothelin antagonists, nitric oxide enhancers)
• Supportive therapy
• Heart and lung transplantation

Ideally, corrective operations should have been done earlier to prevent Eisenmenger's syndrome. There is no specific treatment once the syndrome develops, other than heart and lung transplantation, but drugs that may lower pulmonary artery pressure are being studied. They include prostacyclin antagonists (eg, treprostinilSome Trade Names
REMODULIN
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, epoprostenolSome Trade Names
FLOLAN
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), endothelin antagonists (eg, bosentanSome Trade Names
TRACLEER
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), and nitric oxide enhancers (eg, sildenafilSome Trade Names
VIAGRA
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).

Supportive treatment includes avoidance of conditions that may exacerbate the syndrome (eg, pregnancy, volume depletion, isometric exercise, high altitudes) and use of supplemental O₂. Symptomatic polycythemia can be treated by cautious phlebotomy to lower Hct to 55 to 65% plus simultaneous volume replacement with normal saline. However, compensated and asymptomatic polycythemia does not require phlebotomy, regardless of Hct; phlebotomy eventually leads to iron deficiency and does not change the natural history. Hyperuricemia can be treated with allopurinolSome Trade Names
ZYLOPRIM
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300 mg po once/day. Anticoagulation therapy with warfarinSome Trade Names
COUMADIN
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is potentially harmful and its use should be individualized, but aspirinSome Trade Names
BUFFERIN
ECOTRIN
GENACOTE
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81 mg po once/day is indicated to prevent thrombotic complications.

Life expectancy depends on type and severity of the underlying congenital anomaly and ranges from 20 to 50 yr; median age at death is 37 yr. However, low exercise tolerance and secondary complications severely limit quality of life.

Heart and lung transplantation may be an option but is reserved for patients with severe symptoms and unacceptable quality of life. Long-term survival after transplantation is not promising.

All patients should be given endocarditis prophylaxis (see Table 4: Endocarditis: Recommended Endocarditis Prophylaxis During Oral-Dental or Respiratory Tract Procedures*) before dental or surgical procedures that are likely to cause bacteremia.

Last full review/revision March 2010 by Lee B. Beerman, MD

Content last modified February 2012