Ebstein Anomaly 

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

Background

Ebstein anomaly is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.

Wilhelm Ebstein first described a patient with cardiac defects typical of Ebstein anomaly in 1866. In 1927, Alfred Arnstein suggested the name Ebstein's anomaly for these defects. In 1937, Yates and Shapiro described the first case of the anomaly with associated radiographic and electrocardiographic data.

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Pathophysiology

The embryological development of tricuspid valve leaflets and chordae involves undermining of the right ventricular free wall. This process continues to the level of the atrioventricular (AV) junction. In Ebstein anomaly, this process of undermining is incomplete and falls short of reaching the level of the AV junction. In addition, the apical portions of the valve tissue, which normally undergo resorption, fail to resorb completely. This results in distortion and displacement of the tricuspid valve leaflets, and a part of the right ventricle becomes atrialized. In one study involving 50 hearts with the anomaly, the entire right ventricle was found to be morphologically abnormal.[1]

Ebstein anomaly is commonly associated with other congenital, structural, or conduction system disease, including intracardiac shunts, valvular lesions, and accessory conduction pathways (eg, Wolff-Parkinson-White [WPW] syndrome).

The hemodynamic consequences of Ebstein anomaly result from displaced and malformed tricuspid leaflets and atrialization of the right ventricle. The leaflet anomaly leads to tricuspid regurgitation. The severity of regurgitation depends on the extent of leaflet displacement, ranging from mild regurgitation with minimally displaced tricuspid leaflets to severe regurgitation with extreme displacement.

The atrialized portion of the right ventricle, although anatomically part of the right atrium, contracts and relaxes with the right ventricle. This discordant contraction leads to stagnation of blood in the right atrium. During ventricular systole, the atrialized part of the right ventricle contracts with the rest of the right ventricle, which causes a backward flow of blood into the right atrium, accentuating the effects of tricuspid regurgitation.

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Epidemiology

Frequency

United States

True prevalence is unknown because mild forms frequently are undiagnosed. Currently, with wide application of echocardiography, more cases are being diagnosed. Ebstein anomaly probably accounts for 0.5% of cases of congenital heart diseases.

Mortality/Morbidity

The natural course of the disease varies according to the severity of tricuspid valve displacement.

  • Patients presenting in infancy generally have severe disease and unfavorable prognosis.[2, 3]
  • Mean age of presentation is in the middle teenage years. According to older observational data, approximately 5% of these patients survive beyond age 50 years. The oldest recorded patient lived to age 85 years.

Race

Ebstein anomaly is more common in children of white females.

Sex

No specific sex predominance exists.

Age

Ebstein anomaly can present at various stages of life.

  • Fetal life: Ebstein anomaly is usually diagnosed incidentally by echocardiography.
  • Neonatal life and infancy: Ebstein anomaly presents with cyanosis and/or severe heart failure; typically, symptoms present in infancy improve as pulmonary vascular resistance decreases.
  • Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common.
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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
  1. Muñoz-Castellanos L, Espinola-Zavaleta N, Kuri-Nivón M, Keirns C. Ebstein's Anomaly: anatomo-echocardiographic correlation. Cardiovasc Ultrasound. Nov 23 2007;5:43. [Medline].

  2. Armengol Rofes AJ, Serrano Durán M, Albert Brotons DC, Sánchez López C, Casaldáliga Ferrer J, Girona Comas JM. [Ebstein's anomaly of the tricuspid valve. Apropos 35 cases]. An Esp Pediatr. Feb 1996;44(2):139-44. [Medline].

  3. Khositseth A, Khowsathit P. Factors affecting mortality in Ebstein's anomaly of the tricuspid valve. J Med Assoc Thai. Nov 1999;82 Suppl 1:S10-5. [Medline].

  4. Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, Boughman JA. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology. Aug 1994;50(2):137-47. [Medline].

  5. Boston US, Goldberg SP, Ward KE, et al. Complete repair of Ebstein anomaly in neonates and young infants: A 16-year follow-up. J Thorac Cardiovasc Surg. May 2011;141(5):1163-9. [Medline].

  6. Attie F, Casanova JM, Zabal C, Buendía A, Miranda I, Rijlaarsdam M. Ebstein's anomaly. Clinical profile in 174 patients. Arch Inst Cardiol Mex. Jan-Feb 1999;69(1):17-25. [Medline].

  7. Brown ML, Dearani JA, Danielson GK, Cetta F, Connolly HM, Warnes CA, et al. Effect of operation for Ebstein anomaly on left ventricular function. Am J Cardiol. Dec 15 2008;102(12):1724-7. [Medline].

  8. Brown ML, Dearani JA, Danielson GK, Cetta F, Connolly HM, Warnes CA, et al. Functional status after operation for Ebstein anomaly: the Mayo Clinic experience. J Am Coll Cardiol. Aug 5 2008;52(6):460-6. [Medline].

  9. Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP, Sullivan ID. Ebstein's anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol. Jan 1994;23(1):170-6. [Medline].

  10. Hong YM, Moller JH. Ebstein's anomaly: a long-term study of survival. Am Heart J. May 1993;125(5 Pt 1):1419-24. [Medline].

  11. Riesgo CA, Gómez LG, Higareda SH, Vargas JR. [Ebstein anomaly and pregnancy]. Ginecol Obstet Mex. Aug 2008;76(8):461-7. [Medline].

  12. Ammash NM, Warnes CA, Connolly HM, Danielson GK, Seward JB. Mimics of Ebstein's anomaly. Am Heart J. Sep 1997;134(3):508-13. [Medline].

  13. Attie F, Rosas M, Rijlaarsdam M, et al. The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients. Medicine (Baltimore). Jan 2000;79(1):27-36. [Medline].

  14. Augustin N, Schreiber C, Lunge R. Valve preserving treatment of Ebstein's anomaly: perioperative and follow-up results. Thorac Cardiovasc Surg. Oct 2000;48(5):316. [Medline].

  15. Augustin N, Schreiber C, Wottke M, Meisner H. [Ebstein's anomaly: when should a patient have operative treatment?]. Herz. Aug 1998;23(5):287-92. [Medline].

  16. Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults. Second of two parts. N Engl J Med. Feb 3 2000;342(5):334-42. [Medline].

  17. Chauvaud S. Ebstein's malformation. surgical treatment and results. Thorac Cardiovasc Surg. Aug 2000;48(4):220-3. [Medline].

  18. Friedman WF. Congenital heart disease in infancy and childhood. In: Braunwald E, ed. Heart Disease: A Text Book of Cardiovascular Medicine. 5th ed. Philadelphia, Pa: WB Saunders Company; 1997:934-5.

  19. Gerlis LM, Ho SY, Sweeney AE. Mitral valve anomalies associated with Ebstein's malformation of the tricuspid valve. Am J Cardiovasc Pathol. 1993;4(4):294-301. [Medline].

  20. Kaneko Y, Okabe H, Nagata N, Yasui S, Yamada S, Kobayashi J. Repair of septal and posterior tricuspid leaflets in Ebstein's anomaly. J Card Surg. Jul 1998;13(4):229-35. [Medline].

  21. MacLellan-Tobert SG, Driscoll DJ, Mottram CD, Mahoney DW, Wollan PC, Danielson GK. Exercise tolerance in patients with Ebstein's anomaly. J Am Coll Cardiol. Jun 1997;29(7):1615-22. [Medline].

  22. Perloff JK. Ebstein's anomaly of the tricuspid valve. In: Perloff JK, ed. The Clinical Recognition of Congenital Heart Disease. 3rd ed. Philadelphia, Pa: WB Saunders Company; 1991:235-251.

  23. Ronan Jr JA. Congenital heart disease. In: Chizner MA, ed. Classic Teachings in Clinical Cardiology. 2. First ed. Cedar Grove, NJ: Laennec; 1996:1242-44.

  24. Shaughnessy R. Ebstein's anomaly. In: Crawford MH, DiMarco JP, eds. Cardiology. London: Mosby International; 2001:6.13.1-6.

  25. Weyman AE. Right ventricular inflow tract (congenital anomalies associated with tricuspid regurgitation). In: Weyman AE, ed. Principles and Practice of Echocardiography. 1994. 3rd ed. Philadelphia, Pa: Lea & Febiger:840-2.

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