eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult

Eisenmenger Syndrome

Author: Mikhael F El-Chami, MD, Fellow, Department of Cardiology, Emory University School of Medicine
Coauthor(s): Charles D Searles Jr, MD, Assistant Professor of Medicine, Division of Cardiology, Emory University School of Medicine; Consulting Staff, Division of Cardiology, Director of Stress Echo Laboratory, Grady Memorial Hospital
Contributor Information and Disclosures

Updated: Jun 5, 2008

Introduction

Background

In 1897, Eisenmenger reported the case of a 32-year-old man who had showed exercise intolerance, cyanosis, heart failure, and hemoptysis prior to death. Autopsy showed a large ventricular septal defect (VSD) and overriding aorta. This was the first description of a link between a large congenital cardiac shunt defect and the development of pulmonary hypertension.

Pathophysiology

Eisenmenger syndrome occurs in patients with large congenital cardiac or surgically created extracardiac left-to-right shunts. These shunts initially cause increased pulmonary blood flow. Subsequently, usually before puberty, pulmonary vascular disease causes pulmonary hypertension, ultimately resulting in reversed or bidirectional shunt flow with variable degrees of cyanosis.

For more information, see Medscape CME activity, Eisenmenger's Syndrome: Pathophysiologic Insights and Pharmacologic Treatment Rationales.

Frequency

International

  • The frequency of pulmonary hypertension and the subsequent development of reversed shunting vary depending on the specific heart defect and operative interventions.
  • Approximately 50% of infants with a large, nonrestrictive VSD or patent ductus arteriosus (PDA) develop pulmonary hypertension by early childhood.
  • Forty percent of patients with VSD or PDA and transposition of the great arteries develop pulmonary hypertension within the first year of life.
  • The natural history of a large secundum atrial septal defect (ASD) differs in that the 10% of cases that progress to pulmonary hypertension do so more slowly and usually not until after the third decade of life.
  • All patients with persistent truncus arteriosus and unrestricted pulmonary blood flow, and almost all patients with common atrioventricular canal, develop severe pulmonary hypertension by the second year of life.
  • The frequency of pulmonary hypertension in surgically created systemic-to-pulmonary shunts varies depending on size and anatomy.
  • Ten percent of those with a Blalock-Taussig anastomosis (subclavian artery to pulmonary artery) develop pulmonary hypertension compared to 30% of those with a Waterston (ascending aorta to pulmonary artery) or a Potts (descending aorta to pulmonary artery) shunt.

Mortality/Morbidity

  • Exercise tolerance is severely impaired due to an inability to increase pulmonary blood flow, thereby limiting oxygen uptake. The systemic vascular bed is prone to vasodilation and subsequent systemic arterial hypotension, which can cause syncope.
  • Long-term survival depends on the age at onset of pulmonary hypertension and the coexistence of additional adverse features, such as Down syndrome. Survival predominantly depends on right ventricular function. These patients usually do not survive beyond the second or third decade. The most frequent terminal event is a combination of hypoxemia and arrhythmia in the setting of rapid increases in pulmonary vascular resistance or decreases in systemic vascular resistance (SVR).
  • The complications of chronic cyanotic heart disease affect multiple organ systems, including hematologic, skeletal, renal, and neurologic, causing significant morbidity and mortality.

Sex

No overall sex predilection has been reported.

Age

Eisenmenger syndrome usually develops before puberty but may develop in adolescence and early adulthood.

Clinical

History

Symptoms related specifically to pulmonary hypertension result from the inability to increase pulmonary blood flow in response to physiological stress. Other symptoms are caused by the variety of multisystem complications associated with cyanotic congenital heart disease.

  • Pulmonary hypertension
    • Breathlessness
    • Fatigue
    • Lethargy
    • Severely reduced exercise tolerance with a prolonged recovery phase
    • Presyncope
    • Syncope
  • Heart failure
    • Exertional dyspnea
    • Orthopnea
    • Paroxysmal nocturnal dyspnea
    • Edema
    • Ascites
    • Anorexia
    • Nausea
  • Erythrocytosis
    • Myalgias
    • Muscle weakness
    • Anorexia
    • Fatigue
    • Lassitude
    • Paresthesias of the digits and lips
    • Tinnitus
    • Blurred or double vision
    • Scotomata
    • Headache
    • Dizziness
    • Slowed mentation
    • Decreased alertness
    • Irritability
  • Bleeding tendency
    • Mild mucocutaneous bleeding
    • Epistaxis
    • Menorrhagia
    • Pulmonary hemorrhage
  • Vasodilation
    • Presyncope
    • Syncope
  • Cholelithiasis
    • Right upper quadrant pain
    • Biliary colic
    • Fever
    • Pale stools
    • Jaundice
  • Nephrolithiasis
    • Renal colic
    • Secondary gout
    • Joint pain and swelling
  • Paradoxical embolus can cause symptoms of localized vascular insufficiency end-organ ischemia.
  • Hypertrophic osteoarthropathy can cause long bone pain and tenderness.
  • Retinal complications include episodes of transient visual loss and spontaneous hyphemas.

For more information, see Medscape CME activity Uncovering Complications of Congenital Heart Disease: Eisenmenger's Syndrome and Beyond.

Physical

  • Cardiovascular
    • Central cyanosis (differential cyanosis in the case of a PDA)
    • Clubbing
    • Jugular venous pulse wave may be A-wave dominant, and, in the presence of a significant tricuspid regurgitation, the V wave may be prominent; central venous pressure may be elevated.
    • Precordial palpation reveals a right ventricular heave and, frequently, a palpable S2.
    • Loud P2
    • High-pitched early diastolic murmur of pulmonic insufficiency
    • Right-sided fourth heart sound
    • Pulmonary ejection click
    • Single S2 
    • As the pulmonary vascular resistance progressively rises, the holosystolic murmur of nonrestrictive VSD shortens and softens, first becoming early systolic in timing, before disappearing entirely as the shunt is reversed.
    • The continuous murmur of a PDA disappears when Eisenmenger physiology develops; a short systolic murmur may remain audible.
  • Other signs
    • Respiratory signs include cyanosis and tachypnea.
    • Hematologic signs include bruising and bleeding; funduscopic abnormalities related to erythrocytosis include engorged vessels, papilledema, microaneurysms, and blot hemorrhages.
    • Abdominal signs include jaundice, right upper quadrant tenderness, and positive Murphy sign (acute cholecystitis).
    • Vascular signs include postural hypotension and focal ischaemia (paradoxical embolus).
    • Musculoskeletal signs include clubbing, tenderness over the metacarpal or metatarsal joints (hypertrophic osteoarthropathy), and joint effusions.
    • Skin demonstrates fewer urate deposits than commonly observed in primary gout.
    • Ocular signs include conjunctival injection, rubeosis iridis, and retinal hyperviscosity changes (see Hematological signs).

Causes

  • Large uncorrected cardiac shunts or palliative, surgically created systemic-to-pulmonary shunts for congenital heart disease
  • Large nonrestrictive VSD
  • Nonrestrictive PDA
  • Atrioventricular septal defect, including large ostium primum ASD without ventricular component
  • Aortopulmonary window
  • Palliative, surgically created systemic-to-pulmonary anastomosis for treatment of congenital heart disease

More on Eisenmenger Syndrome

Overview: Eisenmenger Syndrome
Differential Diagnoses & Workup: Eisenmenger Syndrome
Treatment & Medication: Eisenmenger Syndrome
Follow-up: Eisenmenger Syndrome
Multimedia: Eisenmenger Syndrome
References
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Further Reading

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Keywords

Eisenmenger complex, Eisenmenger defect, Eisenmenger disease, Eisenmenger tetralogy, exercise intolerance, cyanosis, heart failure, hemoptysis, ventricular septal defect, VSD, overriding aorta, congenital cardiac shunt defect, pulmonary hypertension, patent ductus arteriosus, PDA, large congenital cardiac left-to-right shunts, surgically created extracardiac left-to-right shunts, increased pulmonary blood flow, transposition of the great arteries, atrial septal defect, persistent truncus arteriosus, unrestricted pulmonary blood flow, common atrioventricular canal, Blalock-Taussig anastomosis, Waterston shunt, Potts shunt, chronic cyanotic heart disease, large nonrestrictive ventricular septal defect, nonrestrictive patent ductus arteriosus

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Contributor Information and Disclosures

Author

Mikhael F El-Chami, MD, Fellow, Department of Cardiology, Emory University School of Medicine
Mikhael F El-Chami, MD is a member of the following medical societies: Alpha Omega Alpha and American College of Cardiology
Disclosure: Nothing to disclose.

Coauthor(s)

Charles D Searles Jr, MD, Assistant Professor of Medicine, Division of Cardiology, Emory University School of Medicine; Consulting Staff, Division of Cardiology, Director of Stress Echo Laboratory, Grady Memorial Hospital
Charles D Searles Jr, MD is a member of the following medical societies: American Heart Association and Sigma Xi
Disclosure: Nothing to disclose.

Pharmacy Editor

Francisco Talavera, PharmD, PhD, Senior Pharmacy Editor, eMedicine
Disclosure: Nothing to disclose.

Managing Editor

Marschall S Runge, MD, PhD, Charles and Anne Sanders Distinguished Professor of Medicine, Chairman of Medicine, Vice Dean for Clinical Affairs, Chairman, Department of Medicine, University of North Carolina at Chapel Hill School of Medicine
Marschall S Runge, MD, PhD is a member of the following medical societies: American Association for the Advancement of Science, American College of Cardiology, American College of Physicians-American Society of Internal Medicine, American Federation for Clinical Research, American Federation for Medical Research, American Heart Association, American Physiological Society, American Society for Clinical Investigation, American Society for Investigative Pathology, Association of American Physicians, Association of Professors of Cardiology, Association of Professors of Medicine, Southern Society for Clinical Investigation, and Texas Medical Association
Disclosure: Pfizer Honoraria Speaking and teaching; Merck Honoraria Speaking and teaching; Orthoclinica Diagnostica Consulting fee Consulting

CME Editor

Amer Suleman, MD, Consultant in Electrophysiology and Cardiovascular Medicine, Department of Internal Medicine, Division of Cardiology, Medical City Dallas Hospital
Amer Suleman, MD is a member of the following medical societies: American College of Physicians, American Heart Association, American Institute of Stress, American Society of Hypertension, Federation of American Societies for Experimental Biology, Royal Society of Medicine, and Society of Cardiac Angiography and Interventions
Disclosure: Nothing to disclose.

Chief Editor

Park W Willis IV, MD, Sarah Graham Distinguished Professor of Medicine and Pediatrics, University of North Carolina at Chapel Hill School of Medicine
Park W Willis IV, MD is a member of the following medical societies: American Society of Echocardiography
Disclosure: Nothing to disclose.

 
 
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