Ebstein’s Malformation of the Tricuspid Valve

  • R. M. Freedom
  • L. N. Benson

Abstract

Master Joseph Prescher, a laborer, died in 1864 at the age of 19 years (Prescher being the “benchmark” patient reported in 1866 by Wilhelm Ebstein) and a rare individual can survive to the robust age of 85 years with Ebstein’s anomaly of the tricuspid valve but many are not that fortunate [46, 56, 66, 68]. Newborns presenting with this uncommon anomaly of the tricuspid valve may have massive cardiomegaly and the prognosis for the severely symptomatic newborn with this disorder is poor [8,12, 25, 29, 31, 41, 58, 63, 67, 77]. This anomaly of the tricuspid valve in its neonatal expression is that of displacement, dysplasia, and malattachment of the valve, producing in most tricuspid regurgitation [3, 4, 9, 43, 52, 81, 82].

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References

  1. 1.
    Adams APS, Venables AW, Jenner B, Goh TH, Edis B (1978) The management of congenital tricuspid incompetence. Eur J Cardiol 8: 599–606PubMedGoogle Scholar
  2. 2.
    Allan LD, Desai G, Tynan MJ (1982) Prenatal echocardiographic screening for Ebstein’s anomaly for mothers on lithium therapy. Lancet ii: 875–876Google Scholar
  3. 3.
    Anderson KR, Lie JT (1978) Pathologic anatomy of Ebstein’s anomaly of the heart revisited. Am J Cardiol 41: 739–745PubMedCrossRefGoogle Scholar
  4. 4.
    Anderson KR, Lie JT (1979) The right ventricular myocardium in Ebstein’s anomaly. A morphometric histopathologic study. Mayo Clin Proc 54: 181–184Google Scholar
  5. 5.
    Anderson KR, Zuberbuhler JR, Anderson RH, Becker AE, Lie JT (1979) Morphologic spectrum of Ebstein’s anomaly of the heart. A review. Mayo Clin Proc 54: 174–180PubMedGoogle Scholar
  6. 6.
    Anderson RH, Macartney FJ, Shinebourne EA, Tynan M (1987) Paediatric cardiology. Churchill Livingstone, Edinburgh, pp 721–736Google Scholar
  7. 7.
    Arcilla R, Gasul BM (1961) Congenital aplasia or marked hypoplasia of the myocardium of the right ventricle ( Uhl’s anomaly ). J Pediatr 58: 381–388Google Scholar
  8. 8.
    Barr PA, Celermajer JM, Bowdler JD, Cartmill TB (1974) Severe congenital tricuspid incompetence in the neonate. Circulation 49: 962–967PubMedGoogle Scholar
  9. 9.
    Becker AE, Becker MJ, Edwards JE (1971) Pathologic spectrum of dysplasia of the tricuspid valve. Features in common with Ebstein’s malformation. Arch Pathol 91: 167–178Google Scholar
  10. 10.
    Berman WJ, Whitman V, Stanger P, Rudolph AM (1978) Congenital tricuspid incompetence simulating pulmonary atresia with intact ventricular septum: a report of two cases. Am Heart J 96: 655–661PubMedCrossRefGoogle Scholar
  11. 11.
    Bharati S, McAllister HAJ, Chiemmongkoltip P, Lev M (1977) Congenital pulmonary atresia with tricuspid insufficiency: morphologic study. Am J Cardiol 40: 70–75PubMedCrossRefGoogle Scholar
  12. 12.
    Bogren HG, Ikeda R, Riemenschneider TA, Merten DF, Janos GG (1979) Massive congenital tricuspid insufficiency in the newborn. Acta Radiol Diagn 20: 261–272Google Scholar
  13. 13.
    Boucek RJ, Graham TP, Morgan JP, Atwood GF, Boerth RC (1976) Spontaneous resolution of massive congenital tricuspid insufficiency. Circulation 54: 795–799PubMedGoogle Scholar
  14. 14.
    Brenner JI, Bharati S, Winn WC Jr, Lev M (1978) Absent tricuspid valve with aortic atresia in mixed levocardiav(atria situs solitus, L-loop). A hitherto undescribed entity. Circulation 57: 836–840Google Scholar
  15. 15.
    Bucciarelli RL, Nelson RM, Egan EA, Eitzman DV, Gessner IH (1977) Transient tricuspid insufficiency of the newborn: a form of myocardial dysfunction in stressed newborns. Pediatrics 59: 330–337PubMedGoogle Scholar
  16. 16.
    Caruso G, Losekoot TG, Becker AE (1978) Ebstein’s anomaly in persistent common atrioventricular canal. Br Heart J 40: 1275–1279PubMedCrossRefGoogle Scholar
  17. 17.
    Chan KC, Da Costa P, Dickinson DF (1989) Functional aortic atresia in congenitally corrected transposition. Int J Cardiol 25: 237–239PubMedCrossRefGoogle Scholar
  18. 18.
    Cote M, Davignon A, Fouron J-C (1973) Congenital hypoplasia of right ventricular myocardium ( Uhl’s anomaly) associated with pulmonary atresia. Am J Cardiol 31: 658–661Google Scholar
  19. 19.
    Deanfield JE, Anderson RH, Macartney FJ (1981) Aortic atresia with ‘corrected transposition of the great arteries’ (atrioventricular and ventriculoarterial discordance). Br Heart J 46: 683–686PubMedCrossRefGoogle Scholar
  20. 20.
    Deutsch V, Wexler L, Blieden LC, Yahini JH, Neufeld HN (1975) Ebstein’s anomaly of the tricuspid valve: critical review of roentgenological features and additional angiographic signs. AJR 125: 395–411Google Scholar
  21. 21.
    Elliott LP, Hartmann AFJ (1967) The right ventricular infundibulum in Ebstein’s anomaly of the tricuspid valve. Radiology 89: 694–700PubMedGoogle Scholar
  22. 22.
    Ellis K, Griffiths SP, Burris JO, Ramsay GC, Fleming RJ (1964) Ebstein’s anomaly of the tricuspid valve. Angiocardiographic considerations. AJR 92: 1338–1352Google Scholar
  23. 23.
    Eshaghpour E, Olley PM, Collins GFN (1969) Idiopathic right atrial enlargement in childhood. Am Heart J 78: 373–378PubMedCrossRefGoogle Scholar
  24. 24.
    Freedom RM, Smallhorn JF (1988) Ebstein’s malformation of the morphologically tricuspid valve: a consideration of regurgitant and obstructive forms in patients with concordant and discordant atrioventricular connections. In: Anderson RH et al. (eds) Perspectives in pediatric cardiology, vol. 1. Futura, Mount Kisco, New York, pp 127–146Google Scholar
  25. 25.
    Freedom RM, Culham G, Moes F, Olley PM, Rowe RD (1978) Differentiation of functional and structural pul-monary atresia: role of aortography. Am J Cardiol 41: 914–920CrossRefGoogle Scholar
  26. 26.
    Freedom RM, Olley PM, Rowe RD (1980) The angiocardiography and morphology of ductal-dependent congenital heart disease: selected topics with reference to the clinical application of E-type prostaglandins. In: Gallucci V, Bini RM, Thiene G (eds) Selected topics in cardiac surgery. Casa Editrice Bologna, Bologna, pp 109–143Google Scholar
  27. 27.
    Freedom RM, Culham JAG, Moes CAF (1984) Angiocardiography of congenital heart disease. Macmillan, New York, pp 111–118Google Scholar
  28. 28.
    Fyler DC (1980) Report of the New England regional infant cardiac program. Pediatrics 65: 453Google Scholar
  29. 29.
    Genton E, Blount SG (1967) The spectrum of Ebstein’s anomaly. Am Heart J 73: 395–425PubMedCrossRefGoogle Scholar
  30. 30.
    Gerlis LM, Anderson RH (1976) Cor triatriatum dexter with imperforate Ebstein’s anomaly. Br Heart J 38: 108–111PubMedCrossRefGoogle Scholar
  31. 31.
    Giuliani ER, Fuster V, Brandenberg RO, Mair DD (1979) The clinical features and natural history of Ebstein’s anomaly of the tricuspid valve. Mayo Clin Proc 54: 163–173PubMedGoogle Scholar
  32. 32.
    Gussenhoven WJ, Spitaels SEC, Bom N, Becker AE (1980) Echocardiographic criteria for Ebstein’s anomaly of tricuspid valve. Br Heart J 43: 31–37PubMedCrossRefGoogle Scholar
  33. 33.
    Gussenhoven EJ, Essed CE, Bos E, de Villeneuve VH (1984) Echocardiographic diagnosis of overriding tricuspid valve in a child with Ebstein’s anomaly. Pediatr Cardiol 5: 209–212Google Scholar
  34. 34.
    Gussenhoven EJ, Stewart PA, Becker AE, Essed CE, Ligtvoet KM, de Villeneuve VH (1984) ‘Offsetting’ of the septal tricuspid leaflet in normal hearts and in hearts with Ebstein’s anomaly. Am J Cardiol 54: 172–181Google Scholar
  35. 35.
    Gussenhoven EJ, Essed CE, Bos E (1986) Unguarded tricuspid orifice with two-chambered right ventricle. Pediatr Cardiol 7: 175–177PubMedCrossRefGoogle Scholar
  36. 36.
    Haworth SG, Shinebourne EA, Miller GAH (1975) Right-to-left interatrial shunting with normal right ventricular pressure. A puzzling haemodynamic picture associated with some rare congenital malformations of the tricuspid valve and right ventricle. Br Heart J 37: 386–391Google Scholar
  37. 37.
    Hirschklau MJ, Sahn DJ, Hagan AD, Williams DE, Friedman WF (1977) Cross-sectional echocardiographic features of Ebstein’s anomaly of the tricuspid valve. Am J Cardiol 40: 400–404PubMedCrossRefGoogle Scholar
  38. 38.
    Huhta JC, Edwards WD, Tajik AJ, Mair DD, Puga FJ, Ritter DG (1982) Pulmonary atresia with intact ventricular septum, Ebstein’s anomaly of hypoplastic tricuspid valve, and double-chamber right ventricle. Mayo Clin Proc 57: 515–519Google Scholar
  39. 39.
    Kanjuh VI, Stevenson JE, Amplatz K, Edwards JE (1964) Congenitally unguarded tricuspid orifice with coexistent pulmonary atresia. Circulation 30: 911–917PubMedGoogle Scholar
  40. 40.
    Kinare SG, Panday SR, Deshmukh SM (1969) Congenital aplasia of the right ventricular myocardium ( Uhl’s Anomaly ). Chest 55: 429–431Google Scholar
  41. 41.
    Kumar AE, Fyler DC, Miettinen OS, Nadas AS (1971) Ebstein’s anomaly: clinical profile and natural history. Am J Cardiol 28: 84–95PubMedCrossRefGoogle Scholar
  42. 42.
    Leung MP, Baker EJ, Anderson RH, Zuberbuhler JR (1988) Cineangiographic spectrum of Ebstein’s malformation: its relevance to clinical presentation and outcome. J Am Coll Cardiol 11: 154–161PubMedCrossRefGoogle Scholar
  43. 43.
    Lev M, Liberthson RR, Joseph RH et al. (1970) The pathologic anatomy of Ebstein’s disease. Arch Pathol 90: 334–343PubMedGoogle Scholar
  44. 44.
    Long WA, Willis PW (1984) Maternal lithium and neonatal Ebstein’s. Am J Perinatol 1: 182–184PubMedCrossRefGoogle Scholar
  45. 45.
    Mair DD, Seward JB, Driscoll DJ, Danielson GK (1985) Surgical repair of Ebstein’s anomaly: selection of patients and early and late operative results. Circulation 72 (Suppl. II): 70–77Google Scholar
  46. 46.
    Mann RJ, Lie JT (1979) The life story of Wilhelm Ebstein (1836–1912) and his almost overlooked description of a congenital heart disease. Mayo Clin Proc 54: 197–204PubMedGoogle Scholar
  47. 47.
    Matsukawa T, Yoshii S, Miyamura H, Eguchi S (1985) Aortic atresia with Ebstein’s and Uhl’s anomaly in corrected transposition of the great arteries: clinco-pathologic findings. Jpn Circ J 49: 325–328PubMedCrossRefGoogle Scholar
  48. 48.
    Matsumoto M, Matsuo H, Nagata S et al. (1976) Visualization of Ebstein’s anomaly of the tricuspid valve by two-dimensional and standard echocardiography. Circulation 53: 69–79Google Scholar
  49. 49.
    Monibi AA, Neches WH, Lenox CC, Park SC, Mathews RA, Zuberbuhler JR (1978) Left ventricular anomalies associated with Ebstein’s malformation of the tricuspid valve. Circulation 57: 303–306PubMedGoogle Scholar
  50. 50.
    Muster AJ, Idriss FS, Bharati S et al. (1985). Functional aortic valve atresia in transposition of the great arteries. J Am Coll Cardiol 6: 630–634PubMedCrossRefGoogle Scholar
  51. 51.
    Newfeld EA, Cole RB, Paul MH (1967) Ebstein’s malformation of the tricuspid valve in the neonate. Functional and anatomic pulmonary outflow tract obstruction. Am J Cardiol 19: 727–731Google Scholar
  52. 52.
    Otero-Coto E, Quero Jiminez M, Deverall PB, Camanas A (1979) Morphological findings in Ebstein’s anomaly. Jpn Heart J 20:43–5?,CrossRefGoogle Scholar
  53. 53.
    Perez-Diaz L, Quero Jiminez M, Moreno Granadas F, Perez Martinez V, Merino Batres G (1973) Congenital absence of myocardium of right ventricle: Uhl’s anomaly. Br Heart J 35: 570–572Google Scholar
  54. 54.
    Perrin EV, Mehrizi A (1965) Isolated free-wall hypoplasia of the right ventricle. Am J Dis Child 109: 558–566PubMedGoogle Scholar
  55. 55.
    Ports TA, Silverman NH, Schiller NB (1978) Two-dimensional echocardiographic assessment of Ebstein’s anomaly. Circulation 58: 336–343PubMedGoogle Scholar
  56. 56.
    Radford DJ, Graff RF, Neilson GH (1985) Diagnosis and natural history of Ebstein’s anomaly. Br Heart J 36: 517–522CrossRefGoogle Scholar
  57. 57.
    Rao PS, Jue KL, Isabel-Jones J, Ruttenberg HD (1973) Ebstein’s malformation of the tricuspid valve with atresia. Differentiation from isolated tricuspid atresia. Am J Cardiol 32: 1004–1009Google Scholar
  58. 58.
    Reisman M, Hipona FA, Bloor CM, Talner NS (1965) Congenital tricuspid insufficiency: a cause of massive cardiomegaly and heart failure in the neonate. J Pediatr 66: 869–873PubMedCrossRefGoogle Scholar
  59. 59.
    Roberson DA, Silverman NH (1989) Ebstein’s anomaly: echocardiographic and clinical features in the fetus and neonate. J Am Coll Cardiol 14: 1300–7PubMedCrossRefGoogle Scholar
  60. 60.
    Rowe RD, Hoffman T (1972) Transient myocardial ischemia of the newborn infant: a form of severe cardiorespiratory distress in full-term infants. J Pediatr 81: 243–247PubMedCrossRefGoogle Scholar
  61. 61.
    Rowe RD, Freedom RM, Mehrizi A (1981) The neonate with congenital heart disease. Saunders, Philadelphia, pp 515–528Google Scholar
  62. 62.
    Russell GA, Stovin PG (1985) Coronary sinus type atrial septal defect in a child with pulmonary atresia and Ebstein’s anomaly. Br Heart J 53: 465–467PubMedCrossRefGoogle Scholar
  63. 63.
    Russo PA, Wyse RKH, Triumbari F, Dodd S, de Leval MR (1988) Ebstein’s anomaly in the first year of life: factors affecting mortality. Br Heart J 59: 135 (abstract)Google Scholar
  64. 64.
    Sahn DJ, Heldt GP, Reed KL, Kleinman CS, Meijboom EJ (1988) Fetal heart disease with cardiomegaly may be associated with lung hypoplasia as a determinant of poor prognosis. J Am Coll Cardiol 11: 9 (abstract)CrossRefGoogle Scholar
  65. 65.
    Schiebler GL, Adams PAJ, Anderson RC, Amplatz K, Lester RG (1959) Clinical study of 23 cases of Ebstein’s anomaly of the tricuspid valve. Circulation 19: 165–187PubMedGoogle Scholar
  66. 66.
    Schiebler GL, Gravenstein JS, Van Mierop LHS (1968) Ebstein’s anomaly of the tricuspid valve. Translation of original description with comments. Am J Cardiol 22: 867–873Google Scholar
  67. 67.
    Schire V, Sutin GL, Barnard CN (1961) Organic and functional pulmonary atresia with intact ventricular septum. Am J Cardiol 8: 100–108CrossRefGoogle Scholar
  68. 68.
    Seward JB, Tajik AJ, Feist DJ, Smith HC (1979) Ebstein’s anomaly in an 85-year-old man. Mayo Clin Proc 54: 193–196PubMedGoogle Scholar
  69. 69.
    Sharma S, Rajani M, Mukhopadhyay S, Aggarwal S, Shrivastsva S, Tandon R (1989) Angiographic abnormalities of the morphologically left ventricle in the presence of Ebstein’s. Int J Cardiol 22: 109–113PubMedCrossRefGoogle Scholar
  70. 70.
    Shiina A, Seward JB, Edwards WD, Hagler DJ, Tajik AJ (1984) Two-dimensional echocardiographic spectrum of Ebstein’s anomaly: detailed anatomic assessment. J Am Coll Cardiol 3: 356–370PubMedCrossRefGoogle Scholar
  71. 71.
    Shiina A, Seward JB, Tajik AJ, Hagler DJ, Danielson GK (1984) Two-dimensional echocardiographic-surgical correlation in Ebstein’s anomaly: preoperative determination of patients requiring tricuspid valve plication vs. replacement. Circulation 68: 534–544CrossRefGoogle Scholar
  72. 72.
    Smallhorn JF, Izukawa T, Benson L, Freedom RM (1984) Noninvasive recognition of functional pulmonary atresia by echocardiography. Am J Cardiol 54: 925–926PubMedCrossRefGoogle Scholar
  73. 73.
    Takayasu S, Obunai Y, Konno S (1978) Clinical clas-sification of Ebstein’s anomaly. Am Heart J 95: 154–162PubMedCrossRefGoogle Scholar
  74. 74.
    Uhl HSM (1952) A previously undescribed congenital malformation of the heart: almost total absence of the myocardium of the right ventricle. Bull Johns Hopkins Hosp 91: 197–205PubMedGoogle Scholar
  75. 75.
    Varghese PJ, Simon AL, Rosenquist GC, Berger M, Rowe RD, Bender HW (1969) Multiple saccular congenital aneurysms of the atria causing persistent atrial tachyarrhythmia in an infant. Report of a case successfully treated by surgery. Pediatrics 44: 429–32Google Scholar
  76. 76.
    Watson H (1966) Electrode catheters and the diagnosis of Ebstein’s anomaly of the tricuspid valve. Br Heart J 28: 161–171PubMedCrossRefGoogle Scholar
  77. 77.
    Watson H (1970) The natural history of Ebstein’s anomaly in childhood and adolescence. A preliminary report on the first 100 cases. Proc Assoc Eur Cardiol 6: 35–39Google Scholar
  78. 78.
    Weinstein MR, Goldfield MD (1975) Cardiovascular malformations with lithium use during pregnancy. Am J Psychiatr 132: 529–531PubMedGoogle Scholar
  79. 79.
    Zalstein E, Koren G, Einarson T, Freedom RM (1990) A case-control study on the association between first trimester exposure to lithium and Ebstein’s anomaly. Am J Cardiol 65: 817–818CrossRefGoogle Scholar
  80. 80.
    Zuberbuhler JR, Blank E (1970) Hypoplasia of right ventricular myocardium ( Uhl’s Disease ). AJR 110: 491–496Google Scholar
  81. 81.
    Zuberbuhler JR, Allwork SP, Anderson RH (1979) The spectrum of Ebstein’s anomaly of the tricuspid valve. J Thorac Cardiovasc Surg 77: 202–211PubMedGoogle Scholar
  82. 82.
    Zuberbuhler JR, Becker AE, Anderson RH, Lenox CC (1984) Ebstein’s malformation and the embryological development of the tricuspid valve. With a note on the nature of “clefts” in the atrioventricular valves. Pediatr Cardiol 5: 289–296Google Scholar
  83. 83.
    Zuberbuhler JR, Anderson RH (1988) Ebstein’s malformation of the tricuspid valve: morphology and natural history. In: Anderson RH et al. (eds) Perspectives in pediatric cardiology, vol. 1. Futura, Mount Kisco, New York, pp 99–112Google Scholar

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© Springer-Verlag London Limited 1992

Authors and Affiliations

  • R. M. Freedom
  • L. N. Benson

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