Pediatric Eisenmenger Syndrome and Pulmonary Hypertension Clinical Presentation

  • Author: Brian M Cummings, MD; Chief Editor: Stuart Berger, MD   more...
 
Updated: Mar 25, 2011
 

History

Patients who develop Eisenmenger syndrome may be asymptomatic for long periods of time. The elevated pulmonary vascular resistance (PVR) prevents pulmonary overcirculation and the symptoms of heart failure. This can result in a delay in diagnosis.

  • In the first weeks of life when the PVR begins to fall toward adult levels, an infant with a large atrial septal defect (ASD), ventricular septal defect (VSD), or patent ductus arteriosus (PDA) may present with congestive heart failure symptoms due to the large left-to-right shunt. This may simply be reflected by poor weight gain.
  • Infants with the same defects who maintain a high PVR have less left-to-right intracardiac shunting and less pulmonary blood flow. Therefore, developing Eisenmenger physiology may remain undetected in infants with a high PVR and relatively large defects because they lack a loud systolic murmur and/or diastolic rumble and the symptoms of heart failure.
  • Patients may have a period of poor weight gain, reflecting congestive heart failure, that improves as pulmonary pressures increase and overcirculation decreases. Clues to the diagnosis may include only dyspnea upon exertion and exercise intolerance. These symptoms become increasingly evident with advancing age, particularly at adolescence, and may progress to lethargy and syncopal episodes.
  • Erythrocytosis secondary to chronic cyanosis is an adaptation to low levels of circulating oxyhemoglobin and is present in most patients. Excessive polycythemia may result in hematocrit levels greater than 65% and hyperviscosity syndrome. Hyperviscosity may lead to thromboembolic events, cerebrovascular complications, gout, chest pain from pulmonary infarction, and hemoptysis. Most of the symptoms are nonspecific and are confirmed if they are relieved by phlebotomy.
  • Any of the multitude of multisystem complications that occur in patients with congenital heart disease may be present.
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Physical

  • Examination findings vary with the progression of the disease. Early in life, infants with a large systemic-to-pulmonary communication may demonstrate mild pulmonary overcirculation with symptoms of cor pulmonale. Initially, cyanosis is absent, and infants present with the signs and symptoms of heart failure. Physical examination may reveal the following:
    • Tachypnea, nasal flaring, grunting, retractions, and tachycardia may be observed.
    • An ausculatory examination may reveal a hyperactive precordium, systolic flow murmur, diastolic rumble, and hepatosplenomegaly. Cardiac examination findings are determined by the underlying anatomic defects.
    • Delayed capillary refill may be present, indicating low cardiac output.
  • As the PVR increases, the pulmonary circulation receives less blood flow with gradually advancing pulmonary artery pressure. Symptoms of congestive heart failure wane. The right ventricle may become hypertrophied, and the chest, when examined, may be asymmetric, with a right ventricular heave and a palpable P2 (ie, a pulmonary closure sound that is so forceful that it can be felt).
  • As pulmonary resistance increases over time, a relative decrease in the left-to-right intracardiac shunt occurs, initially with periods of subclinical right-to-left and bidirectional shunt, followed by frank cyanosis, clubbing, and polycythemia (giving a ruddy appearance to the skin).
  • A hallmark of Eisenmenger syndrome is this seemingly improved clinical condition, despite the lack of change in therapy for congestive heart failure. It represents a physiologically normalized condition caused by the progressively worsening pulmonary vascular obstructive disease (PVOD), with resolution of pulmonary overcirculation and heart failure.
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Causes

  • Potential causes of PVOD and Eisenmenger syndrome include the following:
    • High-pressure and high-volume shunts
      • A large VSD
      • Single ventricle or unbalanced defects with a large interventricular communication (eg, double outlet right ventricle, truncus arteriosus)
      • PDA
      • Aortopulmonary communication (aortopulmonary window)
    • High-volume low-pressure communications
      • ASD
      • Partial or total anomalous venous connection without obstruction
      • Partial or incomplete atrioventricular canal/ASD
    • High–pulmonary venous pressure states
      • Cor triatriatum or stenosing supravalvar mitral ring
      • Obstructed anomalous pulmonary venous connection
      • Pulmonary vein stenosis
      • Mitral stenosis
  • Syndromes associated with a more rapid progression of pulmonary vascular disease include trisomy 21.
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Contributor Information and Disclosures
Author

Brian M Cummings, MD  Pediatric Critical Care; Director Pediatric Transport, Medical Director PALS, MassGeneral Hospital for Children, Instructor in Pediatrics, Harvard Medical School

Brian M Cummings, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Coauthor(s)

Jeff L Myers, MD, PhD  Chief, Pediatric and Congenital Cardiac Surgery, Department of Surgery, Massachusetts General Hospital; Associate Professor of Surgery, Harvard Medical School

Jeff L Myers, MD, PhD is a member of the following medical societies: American College of Surgeons, American Heart Association, and International Society for Heart and Lung Transplantation

Disclosure: Nothing to disclose.

Specialty Editor Board

Christopher Johnsrude, MD, MS  Chief, Division of Pediatric Cardiology, University of Louisville School of Medicine; Director, Congenital Heart Center, Kosair Children's Hospital

Christopher Johnsrude, MD, MS is a member of the following medical societies: American Academy of Pediatrics and American College of Cardiology

Disclosure: St Jude Medical Honoraria Speaking and teaching

Mary L Windle, PharmD  Adjunct Associate Professor, University of Nebraska Medical Center College of Pharmacy; Editor-in-Chief, Medscape Drug Reference

Disclosure: Nothing to disclose.

John W Moore, MD, MPH  Professor of Clinical Pediatrics, Section of Pediatric Cardiology, Department of Pediatrics, University of California San Diego School of Medicine; Director of Cardiology, Rady Children's Hospital

John W Moore, MD, MPH is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Gilbert Z Herzberg, MD  Assistant Professor, Department of Pediatrics, Section of Pediatric Cardiology, New York Medical College; Consulting Staff, Department of Pediatrics, Sound Shore Medical Center

Gilbert Z Herzberg, MD is a member of the following medical societies: American Academy of Pediatrics

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD  Professor of Pediatrics, Division of Cardiology, Medical College of Wisconsin; Chief of Pediatric Cardiology, Medical Director of Pediatric Heart Transplant Program, Medical Director of The Heart Center, Children's Hospital of Wisconsin

Stuart Berger, MD is a member of the following medical societies: American Academy of Pediatrics, American College of Cardiology, American College of Chest Physicians, American Heart Association, and Society for Cardiac Angiography and Interventions

Disclosure: Nothing to disclose.

Additional Contributors

The author would like to thank Dr. Jeff Myers for his work on earlier versions of this topic and Dr. Lahoud-Rahme for her critical review.

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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.
 
 
 
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