• Abstract

    Ebstein's anomaly is a rare congenital heart disease in which the leaflets of the tricuspid valve are displaced apically and culminate in an atrialized right ventricle, tricuspid regurgitation, and right-sided heart dysfunction. This anomaly provides critical clinical variability from neonatal cyanosis to adult arrhythmias and is hence vulnerable to diverse management protocols. This review summarizes Ebstein's anomaly in terms of its pathophysiology, prevalence, diagnostic advances, and treatment, highlighting lacunas and directions for future investigations. This was a systematic literature review from 2000--2023 in the PubMed, Scopus, and Web of Science databases. The search terms used were "Ebstein's anomaly," "tricuspid valve malformation," and "cone reconstruction surgery." Preferred studies included imaging, surgical advancement, and the management of arrhythmia. The historical and recent clinical findings also provide some key references. Ebstein's anomaly shows a wide range of clinical spectra. Advances in diagnostic imaging have enhanced the understanding and planning of surgery via 3D echocardiography and cardiac magnetic resonance imaging (MRI). Cone reconstruction surgery has become the standard of care for repairing the tricuspid valve and has improved outcomes, especially in pediatric patients. Neonates are still a challenge and most often require staged interventions or ECMO support. Most arrhythmias, including Wolff–Parkinson–White syndrome, require a combination of antiarrhythmic therapy, catheter ablation, and surgical interventions. Challenges remain in optimizing care for neonates and managing long-term complications. There have been considerable advancements in the management and results of Ebstein's anomaly. Further research must be conducted on genetic factors, new therapies, and less invasive techniques to solve ongoing problems.

  • References

    1. Anderson, K. R., & Lie, I. T. (1979). The right ventricular myocardium in Ebstein's anomaly: A morphometric histopathologic study. Mayo Clinic Proceedings, 54, 181-184.
    2. Anderson, K. R., Zuberbuhler, J. R., Anderson, R. H., Becker, A. E., & Lie, J. T. (1979). Morphologic spectrum of Ebstein’s anomaly of the heart: A review. Mayo Clinic Proceedings, 54, 174–180.
    3. Anderson, K. R., Zuberbuhler, L. R., Anderson, R. H., et al. (1979). Morphologic spectrum of Ebstein's anomaly of the heart: A review. Mayo Clinic Proceedings, 54, 174-180.
    4. Arnstein, A. (1927). Eine seltene Missbildung der Trikuspidalklappe (Ebsteinsche Krankheit). Virchows Archiv für Pathologische Anatomie, 266, 247–254.
    5. Attenhofer Jost, C. H., et al. (2004). Noncompacted myocardium in Ebstein’s anomaly: Initial description in three patients. Journal of the American Society of Echocardiography, 17(6), 677–680.
    6. Attenhofer Jost, C. H., et al. (2005). Left heart lesions in patients with Ebstein anomaly. Mayo Clinic Proceedings, 80(3), 361–368.
    7. Bahnson, H. T., Bakersfield, S. R., & Smith, J. W. (1965). Pathological anatomy and surgical correction of Ebstein's anomaly. Circulation, 31(Pt 2), 13-18.
    8. Barnard, C. N., & Schrire, V. (1963). Surgical correction of Ebstein's malformation with prosthetic tricuspid valve. Surgery, 54, 302-308.
    9. Barnard, C. N., & Schrire, V. (1963). Surgical correction of Ebstein's malformation with prosthetic tricuspid valve. Surgery, 54, 302–308.
    10. Benson, L. N., et al. (1987). Left ventricular geometry and function in adults with Ebstein’s anomaly of the tricuspid valve. Circulation, 75, 353–359.
    11. Brickner, M. E., et al. (2000). Congenital heart disease in adults: Second of two parts. New England Journal of Medicine, 342, 334–342.
    12. Carpentier, A., Chauvaud, S., Mace, L., et al. (1988). A new reconstructive operation for Ebstein's anomaly of the tricuspid valve. Journal of Thoracic and Cardiovascular Surgery, 96, 92-101.
    13. Celermajer, D. S., et al. (1991). Congenitally corrected transposition and Ebstein’s anomaly of the systemic atrioventricular valve: Association with aortic arch obstruction. Journal of the American College of Cardiology, 18(4), 1056–1058.
    14. Chauvaud, S., Fuzellier, J. F., Berrebi, A., et al. (1998). Bi-directional cavopulmonary shunt associated with ventriculo and valvuloplasty in Ebstein anomaly: Benefits in high-risk patients. European Journal of Cardiothoracic Surgery, 13(5), 514-519.
    15. Daliento, L., et al. (1997). Angiographic and morphologic features of the left ventricle in Ebstein’s malformation. American Journal of Cardiology, 80, 1051–1059.
    16. Danielson, G. K., et al. (1992). Operative treatment of Ebstein’s anomaly. Journal of Thoracic and Cardiovascular Surgery, 104, 1195–1202.
    17. Danielson, G. K., Maloney, L. D., & Devloo, R. E. A. (1979). Surgical repair of Ebstein's anomaly. Mayo Clinic Proceedings, 54, 185-192.
    18. Dearani, J. A., & Danielson, G. K. (2000). Congenital heart surgery nomenclature and database project: Ebstein’s anomaly and tricuspid valve disease. Annals of Thoracic Surgery, 69(Suppl), S106–S117.
    19. Dearani, J. A., & Danielson, G. K. (2003). Ebstein’s anomaly of the tricuspid valve. In Mavroudis, C., & Backer, C. L. (Eds.), Pediatric Cardiac Surgery (3rd ed., pp. 524–536). Philadelphia, PA: Mosby.
    20. Dekker, A., et al. (1965). Corrected transposition of the great vessels with Ebstein malformation of the left atrioventricular valve: An embryologic analysis and two case reports. Circulation, 31(1), 119–126.
    21. Driscoll, G. L., Mottram, C. D., & Danielson, G. K. (1988). Spectrum of exercise intolerance in 45 patients with Ebstein's anomaly and observations on exercise tolerance in 11 patients after surgical repair. Journal of the American College of Cardiology, 11, 831-836.
    22. Ebstein, W. (1866). Ueber einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben. Archiv für Anatomie, Physiologie und Wissenschaftliche Medizin, 33, 238–254.
    23. Engle, M. A., Payne, T. P. B., Bruins, C., & Taussig, H. B. (1950). Ebstein's anomaly of the tricuspid valve: Report of three cases and analysis of the clinical syndrome. Circulation, 1, 1246–1260.
    24. Giuliani, E. R., Fuster, V., Brandenburg, R. O., & Mair, D. D. (1979). The clinical features and natural history of Ebstein's anomaly of the tricuspid valve. Mayo Clinic Proceedings, 54, 163-173.
    25. Hardy, K. L., May, L. A., Webster, C. A., et al. (1964). Ebstein's anomaly: A functional concept and successful definitive repair. Journal of Thoracic and Cardiovascular Surgery, 48, 927-940.
    26. Hunter, S. W., & Lillehei, C. W. (1958). Ebstein's tricuspid valve: Study of a case, together with suggestions of a new form of surgical therapy. Diseases of the Chest, 33, 297-304.
    27. Kumar, A. E., Fyler, D. C., Miettinen, O. S., & Nadas, A. S. (1971). Ebstein's anomaly: Clinical profile and natural history. American Journal of Cardiology, 28, 84-95.
    28. Lamers, W. H., Viragh, S., Wessels, A., Moorman, A. F., & Anderson, R. H. (1995). Formation of the tricuspid valve in the human heart. Circulation, 91, 111–121.
    29. Lev, M., Liberthson, R. R., Joseph, R. H., Seten, C. E., Eckner, F. A., Kunske, R. D., & Miller, R. A. (1970). The pathologic anatomy of Ebstein’s disease. Archives of Pathology, 90, 334–343.
    30. Lillehei, C. W., Kalke, B. R., & Carlson, R. G. (1967). Evolution of corrective surgery for Ebstein's anomaly. Circulation, 35, 36(Pt 2), III1-8.
    31. Mann, R. J., & Lie, J. T. (1979). The life story of Wilhelm Ebstein (1836–1912) and his almost overlooked description of a congenital heart disease. Mayo Clinic Proceedings, 54, 197–204.
    32. Oh, J. K., Holmes, D. R. Jr., Hayes, D. L., Porter, C. J., & Danielson, G. K. (1985). Cardiac arrhythmias in patients with surgical repair of Ebstein's anomaly. Journal of the American College of Cardiology, 6, 1351-1357.
    33. Quaegebeur, J. M., Sreeram, N., Fraser, A. G., et al. (1991). Surgery for Ebstein's anomaly: The clinical and echocardiographic evaluation of a new technique. Journal of the American College of Cardiology, 17, 722-728.
    34. Raju, V., Dearani, J. A., Burkhart, H. M., et al. (2014). Right ventricular unloading for heart failure related to Ebstein malformation. Annals of Thoracic Surgery, 98(1), 167-173.
    35. Reemtsen, B. L., Polimenakos, A. C., Fagan, B. T., et al. (2007). Fate of the right ventricle after fenestrated proper ventricular exclusion for severe neonatal Ebstein anomaly. Journal of Thoracic and Cardiovascular Surgery, 134(6), 1406-1412.
    36. Roberts, P. A., Boudjemline, Y., Cheatham, J. P., et al. (2011). Percutaneous tricuspid valve replacement in congenital and acquired heart disease. Journal of the American College of Cardiology, 58(2), 117-122.
    37. Said, S. M., Burkhart, H. M., Schaff, H. V., et al. (2014). When should a mechanical tricuspid valve replacement be considered? Journal of Thoracic and Cardiovascular Surgery, 148(2), 603-608.
    38. Sano, S., Fujii, Y., Kasahara, S., et al. (2014). Repair of Ebstein’s anomaly in neonates and small infants: Impact of proper ventricular exclusion and its indications. European Journal of Cardiothoracic Surgery, 45(3), 549-555.
    39. Schiebler, G. L., Gravenstem, J. S., & Van Mierop, L. H. S. (1968). Ebstein's anomaly of the tricuspid valve: Translation of original description with comments. American Journal of Cardiology, 2, 867–873.
    40. Schmidt-Habelmann, P., Meisner, H., Struck, E., & Seboning, F. (1981). Results of valvuloplasty for Ebstein's anomaly. Thoracic and Cardiovascular Surgery, 29, 155.
    41. Sekelj, P., & Benfey, B. G. (1984). Historical landmarks: Ebstein's anomaly of the tricuspid valve. American Heart Journal, 88, 108–114.
    42. Shiina, A., Seward, J. B., Tajik, A. J., Hagler, D. J., & Danielson, G. K. (1983). Two-dimensional echocardiographic-surgical correlation in Ebstein's anomaly: Preoperative determination of patients requiring tricuspid valve plication vs replacement. Circulation, 68, 534-544.
    43. Silverman, N. H., et al. (1995). Pathologic elucidation of the echocardiographic features of Ebstein’s malformation of the morphologically tricuspid valve in discordant atrioventricular connections. American Journal of Cardiology, 76(15), 1277–1283.
    44. Timmis, H. H., Hardy, L. D., & Watson, D. G. (1967). The surgical management of Ebstein's anomaly: The combined use of tricuspid valve replacement, atrioventricular plication, and atrioplasty. Journal of Thoracic and Cardiovascular Surgery, 53, 385-391.
    45. Tourniaire, A., Deyerieux, F., & Tortulier, H. (1949). Maladie d’Ebstein: Essai de diagnostique clinique. Archives des Maladies du Cœur et des Vaisseaux, 42, 1211–1216.
    46. van Son, J. A., et al. (1995). Late results of systemic atrioventricular valve replacement in corrected transposition. Journal of Thoracic and Cardiovascular Surgery, 109(4), 642–652.
    47. Williams, D. B., Danielson, G. K., McGoon, D. C., Puga, F. J., Mair, D. D., & Edwards, W. D. (1982). Porcine heterograft valve replacement in children. Journal of Thoracic and Cardiovascular Surgery, 84, 446-450.
    48. Yang, H., et al. (2004). A rare case of interstitial del(1)(p34.3p36.11) diagnosed prenatally. Fetal and Pediatric Pathology, 23, 251–255.
    49. Yatsenko, S. A., et al. (2004). Interstitial deletion of 10p and atrial septal defect in DiGeorge 2 syndrome. Clinical Genetics, 66, 128–136.
    50. Zamanian, R. T., Haddad, F., Doyle, R. L., & Weinacker, A. B. (2007). Management strategies for patients with pulmonary hypertension in the intensive care unit. Critical Care Medicine, 35(9), 2037-2050.
    51. Zuberbuhler, J. R., Allwork, S. P., & Anderson, R. H. (1979). The spectrum of Ebstein’s anomaly of the tricuspid valve. Journal of Thoracic and Cardiovascular Surgery, 77, 202–211.
    52. Zuberbuhler, L. R., Allwork, S. P., & Anderson, R. H. (1979). The spectrum of Ebstein's anomaly of the tricuspid valve. Journal of Thoracic and Cardiovascular Surgery, 77, 202-211.

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Modi, D., Dasar, D., Singh, N., & Shinde, K. (2025). Ebstein’s anomaly: Glimpses in pathophysiology, prevalence, diagnostic updates, and treatment strategies through evolution . Multidisciplinary Reviews, 8(9), 2025264. https://doi.org/10.31893/multirev.2025264
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