Eisenmenger Syndrome Clinical Presentation

  • Author: Mikhael F El-Chami, MD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: Dec 12, 2011
 

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 various multisystem complications associated with cyanotic congenital heart disease. The Dana Point studies offer clinical aspects and diagnostic options,[1] medical treatments,[1] and surgical options.[2]

Pulmonary hypertension symptoms include the following:

  • Breathlessness
  • Fatigue
  • Lethargy
  • Severely reduced exercise tolerance with a prolonged recovery phase
  • Presyncope
  • Syncope

Heart failure symptoms include the following:

  • Exertional dyspnea
  • Orthopnea
  • Paroxysmal nocturnal dyspnea
  • Edema
  • Ascites
  • Anorexia
  • Nausea

Erythrocytosis symptoms include the following:

  • 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 symptoms include the following:

  • Mild mucocutaneous bleeding
  • Epistaxis
  • Menorrhagia
  • Pulmonary hemorrhage

Vasodilation symptoms include the following:

  • Presyncope
  • Syncope

Cholelithiasis symptoms include the following:

  • Right upper quadrant pain
  • Biliary colic
  • Fever
  • Pale stools
  • Jaundice

Nephrolithiasis symptoms include the following:

  • 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.

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Physical

Cardiovascular findings include the following:

  • 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 include the following:

  • 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).
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Causes

Causes include the following:

  • 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
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Contributor Information and Disclosures
Author

Mikhael F El-Chami, MD  Assistant Professor, Department of Cardiology, Division of Electrophysiology, Emory University School of Medicine

Mikhael F El-Chami, MD is a member of the following medical societies: Alpha Omega Alpha, American College of Cardiology, and Heart Rhythm Society

Disclosure: Medtronic Inc Grant/research funds Principle Investigator

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.

Specialty Editor Board

Francisco Talavera, PharmD, PhD  Adjunct Assistant Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Medscape Salary Employment

Marschall S Runge, MD, PhD  Charles and Anne Sanders Distinguished Professor of Medicine, Chairman, Department of Medicine, Vice Dean for Clinical Affairs, 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

Amer Suleman, MD  Private Practice

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.

Additional Contributors

The authors and editors of eMedicine gratefully acknowledge the contributions of previous authors Lisa A Hourigan, MBBS and Elyse Foster, MD to the development and writing of this article.

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This radiograph reveals an enlarged right heart and pulmonary artery dilatation in a 24-year-old woman with an unrestricted patent ductus arteriosus (PDA) and Eisenmenger syndrome.
Apical 4-chamber transthoracic view demonstrating an ostium primum atrial septal defect (ASD) with enlarged right-side chambers. RA = right atrium, RV = right ventricle, LA = left atrium, LV = left ventricle.
This CT chest scan shows a large, unrestricted patent ductus arteriosus (PDA) in a 24-year-old woman with Eisenmenger syndrome. Asc Ao = ascending aorta.
This transthoracic apical 4-chamber segment shows color Doppler flow across the interatrial septum at the site of a large ostium primum atrial septal defect (ASD). RA = right atrium, LA = left atrium.
This transesophageal image is from the mid esophagus of a patient with Eisenmenger syndrome secondary to an unrestricted patent ductus arteriosus (PDA). It shows a severely dilated pulmonary artery. Pulm a = pulmonary artery, Asc Ao = ascending aorta.
This is a color Doppler interrogation of the tricuspid valve in a case of Eisenmenger syndrome. It demonstrates an elevated estimated right ventricular systolic pressure of 106 mm Hg + right atrial pressure, reflecting pulmonary hypertension. TR = tricuspid regurgitation.
This is the transthoracic Doppler examination of the pulmonic valve in a 24-year-old woman with Eisenmenger syndrome secondary to an uncorrected ostium primum atrial septal defect (ASD). This reveals an elevated estimated pulmonary artery diastolic pressure of 51 mm Hg + right atrial pressure. PR = pulmonic regurgitation.
 
 
 
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