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Eisenmenger syndrome

Orpha number ORPHA97214
Synonym(s) -
Prevalence 1-9 / 1 000 000
Inheritance -
Age of onset Adolescence / Young adulthood
ICD-10
  • I27.2
OMIM -
UMLS -
MeSH -
MedDRA
  • 10058554
SNOMED CT
  • 204311009
  • 445928005
  • 83130006

Summary

Eisenmenger's syndrome (ES) is a rare complex combination of cardiovascular abnormalities defined as pulmonary hypertension with reversed or bi-directional shunting through an intracardiac or aortopulmonary communication. Its exact prevalence is unknown. The syndrome usually develops before puberty, but may develop in adolescence or early adulthood. It affects both males and females. Infants born with a large ventricular septal defect, an atrial septal defect, or a persistently patent arterial duct are at high risk of developing ES. Clinical manifestations include shortness of breath (especially with activity) fatigue, lethargy, dizziness, cyanosis, syncope, chest pain, palpitations, atrial and ventricular arrhythmias, and, rarely, right heart failure (associated with hepatomegaly, peripheral edema, jugular venous distention). Digital clubbing and cardiac murmurs may occur. Haemoptysis is a late symptom. Signs of cerebral embolic phenomena or endocarditis may develop. Cardiac failure and sudden death may occur. Patients are at high risk of peripartum morbidity and mortality. Laboratory testing shows polycythemia. Electrocardiogram shows right ventricular hypertrophy and, occasionally, right atrial hypertrophy. ES results from communication between two cardiac chambers, either as a consequence of a congenital cardiac malformation or a surgically-created shunt, which permits oxygenated blood to recirculate back into the right ventricle and to the lungs, leading to pulmonary hypertension. The diagnosis is based on the clinical features and on the abnormal electrocardiogram and clinical imaging. Cardiac catheterization, with measurement of pulmonary arterial pressures, confirms the diagnosis. ES syndrome should be distinguished from Eisenmenger ventricular septal defect, which is one of the malformations that can lead to development of the syndrome. Management includes avoiding conditions that may exacerbate the syndrome, such as pregnancy, depletion of circulating volume, isometric exercise, or activities at high altitude. Patients should not participate in competitive sports, or any other intense athletic activities. The syndrome can be avoided if corrective surgery is undertaken prior to developmental changes within the lungs. Once the syndrome has developed, there is no specific treatment, apart from both heart and lung transplantation: this being an option for patients with a poor prognosis who fail to respond to medical therapy. Medical treatment is supportive. The pulmonary hypertension may be treated with prostacyclin and endothelin antagonists. Prophylaxis against endocarditis is recommended. Once developed, life expectancy depends on the type and severity of the underlying defect and right ventricular function, and ranges from 20 to 50 years. The rate of fetal mortality in patients with the syndrome who become pregnant is approximately 25%, while the maternal mortality rate exceeds 50%.

Expert reviewer(s)

  • Pr Robert ANDERSON

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Detailed information

Review article
  • EN (2013)
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