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Pediatric Ebstein Anomaly Clinical Presentation

  • Author: Raymond T Fedderly, MD; Chief Editor: Stuart Berger, MD  more...
 
Updated: Jan 04, 2016
 

History

For the purpose of clinical presentation of Ebstein anomaly, the patients are separated into the age groups used in a study by Celermajer et al.[1]

Fetus

An abnormal fetal scan is present in about 86% of fetuses, and an arrhythmia is present in about 5%.[2]

Neonate (aged 0-1 mo)

About 74% of neonates have cyanosis, 10% have heart failure with poor feeding and failure to thrive, and 9% have an incidental heart murmur.

Infant (aged 2 mo to 2 y)

About 35% of infants have cyanosis, 43% have heart failure with poor feeding and failure to thrive, and 13% have an incidental heart murmur.

Child (aged 3-10 y)

About 14% of children have cyanosis, 8% have heart failure with poor growth and decreased exercise tolerance, 12% have an arrhythmia with complaints of palpitations, and 66% have an incidental heart murmur.

Adolescent (aged 11-18 y)

About 13% of adolescents have cyanosis, 13% have heart failure with dyspnea on exertion and decreased exercise tolerance, 40% have an arrhythmia with complaints of palpitations, and 33% have an incidental heart murmur.

Adult (aged >18 y)

About 4% of adults have cyanosis, 26% have heart failure with dyspnea on exertion and decreased exercise tolerance, 43% have an arrhythmia with complaints of palpitations, 13% have an incidental heart murmur, 20% have chest pain, and 6% have syncope.

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Physical

The physical examination findings vary based on the age of the patient and the degree of tricuspid valve regurgitation and right ventricular outflow tract obstruction. Note the following:

  • The classic cardiac examination is marked by a gallop or quadruple rhythm caused by widely split first and second heart sounds, as well as a third heart sound or fourth heart sound.
  • Tricuspid regurgitation causes a holosystolic or regurgitant systolic murmur at the left lower sternal border.
  • A diastolic murmur of relative tricuspid stenosis and the systolic ejection murmur associated with right ventricular outflow tract obstruction may also be heard.
  • Congestive heart failure, if present, may cause passive liver congestion, and the liver edge may be easily palpable below the right costal margin.
  • Clubbing and elevated jugular venous distension may be present in older patients.
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Causes

Most cases are sporadic, but familial cases have occurred. Maternal lithium and benzodiazepine exposures have been implicated as a cause of this disease.

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Contributor Information and Disclosures
Author

Raymond T Fedderly, MD Associate Professor, Department of Pediatric Cardiology, Children's Hospital of Wisconsin, Medical College of Wisconsin

Raymond T Fedderly, MD is a member of the following medical societies: American College of Cardiology, American Heart Association

Disclosure: Nothing to disclose.

Specialty Editor Board

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 Pediatic 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, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

Chief Editor

Stuart Berger, MD Medical Director of The Heart Center, Children's Hospital of Wisconsin; Associate Professor, Department of Pediatrics, Section of Pediatric Cardiology, Medical College 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, Society for Cardiovascular Angiography and Interventions

Disclosure: Nothing to disclose.

Additional Contributors

Charles I Berul, MD Professor of Pediatrics and Integrative Systems Biology, George Washington University School of Medicine; Chief, Division of Cardiology, Children's National Medical Center

Charles I Berul, MD is a member of the following medical societies: American Academy of Pediatrics, Heart Rhythm Society, Cardiac Electrophysiology Society, Pediatric and Congenital Electrophysiology Society, American College of Cardiology, American Heart Association, Society for Pediatric Research

Disclosure: Received grant/research funds from Medtronic for consulting.

References
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  17. Chauvaud SM, Hernigou AC, Mousseaux ER, Sidi D, Hebert JL. Ventricular volumes in Ebstein's anomaly: x-ray multislice computed tomography before and after repair. Ann Thorac Surg. 2006 Apr. 81(4):1443-9. [Medline].

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Frontal chest radiograph in an infant with severe Ebstein anomaly shows a large heart that leaves little space for the lung. Although the appearance is relatively nonspecific, the large heart should suggest Ebstein anomaly in the differential diagnosis.
 
 
 
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