Ebstein Anomaly Clinical Presentation

  • Author: Kamran Riaz, MD; Chief Editor: Park W Willis IV, MD   more...
 
Updated: May 31, 2011
 

History

Patients can have a variety of symptoms related to the anatomical abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease.

  • Cyanosis
    • Fairly common and frequently due to right-to-left shunt at the atrial level and/or severe heart failure
    • Transient in neonatal life with recurrence in adult life
    • May appear for the first time in adult life
    • Transient appearance/worsening of cyanosis in adult life due to paroxysmal arrhythmias
    • Once apparent, progressively worsens
  • Fatigue and dyspnea: These are due to poor cardiac output secondary to right ventricular failure and decreased left ventricular ejection fraction.
  • Palpitations and sudden cardiac death
  • Symptoms of right heart failure: These include ankle edema and ascites.
  • Other less common presenting symptoms
    • Brain abscess due to right-to-left shunt
    • Bacterial endocarditis
    • Paradoxical embolism, stroke, and transient ischemic attacks
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Physical

Physical findings, like the symptoms, span a spectrum from subtle to dramatic.

  • Cyanosis and clubbing - Varying degrees of cyanosis at various times in life and transient worsening with arrhythmias
  • Precordial asymmetry
    • Usually left parasternal prominence and occasionally right parasternal prominence
    • Absent left parasternal (ie, right ventricular) lift an important negative sign
  • Jugular venous pulse
    • May be normal owing to a large, thin-walled right atrium, which can absorb the volume and pressure transmitted from the right ventricle through an incompetent tricuspid valve
    • Large a and v waves late in the course of the disease, with development of right heart failure
  • Arterial pulses
    • Usually normal
    • Diminished volume late in the course of the disease due to severe right heart failure and decreased left ventricular stroke volume
  • Heart sounds
    • First heart sound is widely split with loud tricuspid component secondary to delayed closure of the elongated anterior tricuspid leaflet, which has an increased excursion. Mitral component may be soft or absent in the presence of prolonged PR interval.
    • Second heart sound usually is normal but may be widely split when the pulmonary component is delayed due to right bundle-branch block (RBBB).
  • Additional heart sounds and murmurs
    • Third and fourth heart sounds are commonly present, even in the absence of congestive heart failure (CHF). Summation of third and fourth heart sounds, especially with prolonged PR interval, can mimic an early diastolic murmur.
    • The holosystolic murmur of tricuspid regurgitation is heard maximally at the lower left parasternal area and sometimes at the apex owing to the displaced location of the tricuspid valve; murmur intensity and duration increase during inspiration.
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Causes

  • Ebstein anomaly is a congenital disease of often uncertain cause.
  • Environmental factors[4] implicated in etiology include the following:
    • Maternal ingestion of lithium in first trimester of pregnancy
    • Maternal benzodiazepine use
    • Maternal exposure to varnishing substances
    • Maternal history of previous fetal loss
  • Risk is higher in whites than in other races.
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Contributor Information and Disclosures
Author

Kamran Riaz, MD  Clinical Assistant Professor, Department of Internal Medicine, Section of Cardiology, Wright State University School of Medicine

Kamran Riaz, MD is a member of the following medical societies: American College of Cardiology, American College of Physicians, American Society of Echocardiography, Ohio State Medical Association, and Royal College of Physicians

Disclosure: Nothing to disclose.

Specialty Editor Board

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.

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.

References

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