Ebstein’s Anomaly
Christine H. Attenhofer Jost, MD; Heidi M. Connolly, MD; Joseph A. Dearani, MD;
William D. Edwards, MD; Gordon K. Danielson, MD
valve. The posterior and septal leaflets were hypoplastic, In Ebstein’s anomaly, the right ventricle is divided into 2
thickened, and adherent to the right ventricle. There was regions: the part directly involved with the malformation (ie, the
also a thinned and dilated atrialized portion of the right inlet portion), which is functionally integrated with the right
ventricle, an enlarged right atrium, and a patent foramen atrium, and the part that is not involved by the anomaly, which
ovale9 (Figure 1). By 1950, only 3 cases of this anomaly consists of the other 2 components of the right ventricle, namely
had been published.8,10,11 the trabecular and outlet portions, that constitute the functional
right ventricle. The “atrialized” portion of the right ventricle (ie,
Pathological Anatomy the inlet component) can become disproportionately dilated and
In the normal heart, the tricuspid valve has 3 leaflets: may account for more than half of the right ventricular volume
anterior, posterior, and septal.12,13 Ebstein’s anomaly is a in extreme cases instead of the usual one third of the total right
malformation of the tricuspid valve and right ventricle ventricular volume. There is often marked dilatation of the true
characterized by (1) adherence of the septal and posterior tricuspid valve annulus, which is not displaced, and a large
leaflets to the underlying myocardium (failure of delami- chamber separating this true annulus from the functional right
nation, namely splitting of the tissue by detachment of the ventricle (atrialized portion of the right ventricle)6,12 (Figure 2).
inner layer during embryologic development); (2) down- The right coronary artery demarcates the level of the true
ward (apical) displacement of the functional annulus annulus and may become kinked during plication annuloplasty
(septal⬎posterior⬎anterior); (3) dilation of the “atrial- procedures.
ized” portion of the right ventricle, with various degrees of Two thirds of hearts with Ebstein’s anomaly show
hypertrophy and thinning of the wall; (4) redundancy, dilated right ventricles. Dilatation often involves not only
fenestrations, and tethering of the anterior leaflet; and (5) the atrialized inlet portion of the right ventricle but also the
dilation of the right atrioventricular junction (true tricuspid functional right ventricular apex and outflow tract. In some
annulus).6,14 cases, right ventricular dilatation is so marked that the
The apical displacement of the hinge point of the valve in ventricular septum bulges leftward, compressing the left
Ebstein’s anomaly from the atrioventricular ring is shown in ventricular chamber.6 In such cases, the short-axis view
Figure 2.12,15–17 The point of maximal displacement is at the demonstrates a circular right ventricle and a crescentic left
commissure between the posterior and septal leaflets of the ventricle. In extreme cases, episodic left ventricular out-
tricuspid valve.16 In normal human hearts, the downward flow tract obstruction can occur.
displacement of the septal and posterior leaflets in relation to
the anterior mitral valve leaflet is ⬍8 mm/m2 body surface Nomenclature and Classification
area.6 The spectrum of the malformation in Ebstein’s anom- We use 2 approaches in describing the anatomic severity of
aly may range from only minimal displacement of the septal Ebstein’s anomaly. The first approach is based on the
and posterior leaflets to an imperforate membrane or muscu- echocardiographic appearance in which the abnormality is
From the Divisions of Cardiovascular Diseases (C.H.A.J., H.M.C.), Cardiovascular Surgery (J.A.D.), and Anatomic Pathology (W.D.E.), Mayo Clinic,
Rochester, Minn.
Dr Danielson is an emeritus member, Division of Cardiovascular Surgery, Mayo Clinic, Rochester, Minn.
This article is based in part on a previously published manuscript.1 Used with permission.
Reprint requests to Heidi M. Connolly, MD, Division of Cardiovascular Diseases, Mayo Clinic, 200 First St SW, Rochester MN, 55905.
(Circulation. 2007;115:277-285.)
© 2007 American Heart Association, Inc.
Circulation is available at http://www.circulationaha.org DOI: 10.1161/CIRCULATIONAHA.106.619338
277
278 Circulation January 16, 2007
Physiology
The functional impairment of the right ventricle and regurgi-
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Surgical Options
In 1959, repair of the tricuspid valve was reported in 2
patients who had Ebstein’s anomaly; both died.57 Successful
operative intervention for regurgitation of the tricuspid valve
in patients with the anomaly was first described in 1962; the
valve was replaced.58 The initial publication on patients with
Ebstein’s anomaly undergoing tricuspid valve replacement
reported a surgical mortality of 54%.49 Similar high early
mortality and unsatisfactory late results for tricuspid valve
repair by the methods available at that time were
described.57,59
Between April 1972 and January 2005, 540 consecutive
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Pacing
Permanent pacing is required for 3.7% of patients with
Ebstein’s anomaly, most commonly for atrioventricular block
and rarely for sinus node dysfunction.75 In the presence of a
tricuspid valve prosthesis, the ventricular lead for permanent
DDD pacing usually is placed epicardially or through the
coronary sinus or a cardiac vein. Alternatively, a previously
placed transvenous ventricular lead may be sutured outside
the prosthesis sewing ring at the time of valve replacement.
Placement of a transvenous ventricular lead through a bio-
prosthesis is effective but less desirable because of the
possibility of propping open one of the valve cusps, thus
creating regurgitation of the tricuspid valve. This complica-
tion can be minimized by use of transesophageal echocardio-
graphic monitoring to ensure that the lead lies safely in a
commissure between the valve cusps.
Figure 9. Diagram of technique for tricuspid valve replacement Several studies have reported on the natural history of
in Ebstein’s anomaly. A, The valve suture line is placed on the
atrial side of the membranous septum and atrioventricular (AV)
Ebstein’s anomaly.49,76 –78 The largest of these studies, report-
node to avoid injury to the conduction system. The suture line is ing on 505 patients with Ebstein’s anomaly, was published
also deviated cephalad to the tricuspid annulus posterolaterally ⬎30 years ago.49 The study consisted primarily of patients
when the tissues are thin to avoid injury to the right coronary between 1 and 25 years of age, with 67 patients ⬎25 years
artery. When sufficient distance between the coronary sinus and
the AV node exists, the coronary sinus may be left on the atrial and only 35 patients ⬍1 year of age. Of the infants ⬍1 year
side of the suture line. B, The sutures are tied with the heart of age, 72% were in heart failure, but for 81% of the others,
perfused and beating to ensure that a conducted rhythm is pre- growth and development during infancy were average or
served. From Dearani et al.63 Used with permission of Mayo
Foundation for Medical Education and Research.
good. In addition, 71% of children and adolescents and 60%
of adults were classified as New York Heart Association
functional class I or II.49 A high mortality rate from conges-
and demonstrate low early mortality and good durability at tive heart failure was noted during the first few months of life;
late follow-up.73 subsequently, mortality plateaued at an average of 12%
scattered uniformly throughout childhood and adolescence.
Indications for Operation Of those who had surgical treatment, 54% did not survive the
Observation alone is advised for asymptomatic patients with operation. This study was published before the echocardio-
no right-to-left shunting and only mild cardiomegaly. Chil- graphic era and thus does not reflect the current Ebstein’s
dren who have survived infancy generally do well for several anomaly population.
years, and surgery can be postponed until symptoms appear, Of all neonates with the diagnosis of Ebstein’s anomaly,
cyanosis becomes evident, or paradoxical emboli occur. 20% to 40% do not survive 1 month, and ⬍50% survive to 5
Deliberations about an operation should begin if evidence of years.79 – 82
deterioration exists, such as progressive increase in right heart Celermajer et al19 reviewed 220 cases of Ebstein’s anomaly
size, reduction in systolic function, or appearance of ventric- with 1 to 34 years of follow-up. Actuarial survival for all
ular or atrial tachyarrhythmias. However, once symptoms live-born patients was 67% at 1 year and 59% at 10 years.
progress to New York Heart Association functional class III Predictors of death were echocardiographic grade of severity
at presentation (relative risk increased by 2.7 for each
or IV, medical management has little to offer, surgical risks
increase in grade), fetal presentation, and right ventricular
increase, and operation is clearly indicated. A biventricular
outflow tract obstruction.
reconstruction is feasible for most patients. A 1.5 ventricle
In rare cases, patients with Ebstein’s anomaly live ⬎70
repair can be applied to the failing right ventricle. Heart
years, but 1 reported patient died at 85 years of age.38 A
transplantation is reserved for patients with severe biventric-
reassessment of the prognosis of Ebstein’s anomaly is appro-
ular dysfunction. priate in the current era of refined cardiovascular
Some patients with cyanosis on exercise who have a shunt intervention.
at the atrial level but only mild or moderate regurgitation of
the tricuspid valve may benefit from device closure to Conclusions
alleviate cyanosis and to prevent paradoxical emboli. Some Ebstein’s anomaly is a complex congenital anomaly with a
centers commonly perform such procedures either as a staged broad anatomic and clinical spectrum. Management is com-
approach or for long-term palliation.74 The degree of tricuspid plex and must be individualized. Precise knowledge about the
valve regurgitation must be assessed carefully, however, different anatomic and hemodynamic variables, associated
because closure of an atrial septal defect alone may worsen malformations, and management options is essential. Thus, it
right ventricular dysfunction. is important that patients with Ebstein’s anomaly be evalu-
284 Circulation January 16, 2007
ated regularly by a cardiologist who has expertise in congen- 22. Benson DW, Silberbach GM, Kavanaugh-McHugh A, Cottrill C, Zhang
ital heart disease.83– 85 With better management strategies, it is Y, Riggs S, Smalls O, Johnson MC, Watson MS, Seidman JG, Seidman
CE, Plowden J, Kugler JD. Mutations in the cardiac transcription factor
hoped that survival of patients with this anomaly of all ages NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest.
will continue to improve. 1999;104:1567–1573.
23. Yatsenko SA, Yatsenko AN, Szigeti K, Craigen WJ, Stankiewicz P,
Acknowledgment Cheung SW, Lupski JR. Interstitial deletion of 10p and atrial septal defect
in DiGeorge 2 syndrome. Clin Genet. 2004;66:128 –136.
Editing, proofreading, and reference verification were provided by
24. Yang H, Lee CL, Young DC, Shortliffe M, Yu W, Wright JR. A rare case
the Section of Scientific Publications, Mayo Clinic.
of interstitial del(1)(p34.3p36.11) diagnosed prenatally. Fetal Pediatr
Pathol. 2004;23:251–255.
Disclosures 25. Danielson GK, Driscoll DJ, Mair DD, Warnes CA, Oliver WC Jr.
None. Operative treatment of Ebstein’s anomaly. J Thorac Cardiovasc Surg.
1992;104:1195–1202.
References 26. Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults:
1. Attenhofer Jost CH, Connolly HM, Edwards WD, Hayes D, Warnes CA, second of two parts. N Engl J Med. 2000;342:334 –342.
Danielson GK. Ebstein’s anomaly: review of a multifaceted congenital 27. Daliento L, Angelini A, Ho SY, Frescura C, Turrini P, Baratella MC,
cardiac condition. Swiss Med Wkly. 2005;135:269 –281. Thiene G, Anderson RH. Angiographic and morphologic features of the
2. Keith JD, Rowe RD, Vlad P. Heart Disease in Infancy and Childhood. left ventricle in Ebstein’s malformation. Am J Cardiol. 1997;80:
New York, NY: Macmillan Co; 1958. 1051–1059.
3. Perloff JK. The Clinical Recognition of Congenital Heart Disease. 5th ed. 28. Benson LN, Child JS, Schwaiger M, Perloff JK, Schelbert HR. Left
Philadelphia, Pa: WB Saunders; 2003. ventricular geometry and function in adults with Ebstein’s anomaly of the
tricuspid valve. Circulation. 1987;75:353–359.
Downloaded from http://circ.ahajournals.org/ by guest on October 20, 2016
43. Shiina A, Seward JB, Edwards WD, Hagler DJ, Tajik AJ. Two- 66. Hancock Friesen CL, Chen R, Howlett JG, Ross DB. Posterior annular
dimensional echocardiographic spectrum of Ebstein’s anomaly: detailed plication: tricuspid valve repair in Ebstein’s anomaly. Ann Thorac Surg.
anatomic assessment. J Am Coll Cardiol. 1984;3:356 –370. 2004;77:2167–2171.
44. Eustace S, Kruskal JB, Hartnell GG. Ebstein’s anomaly presenting in 67. Chen JM, Mosca RS, Altmann K, Printz BF, Targoff K, Mazzeo PA,
adulthood: the role of cine magnetic resonance imaging in diagnosis. Clin Quaegebeur JM. Early and medium-term results for repair of Ebstein
Radiol. 1994;49:690 – 692. anomaly. J Thorac Cardiovasc Surg. 2004;127:990 –998.
45. Fisher MR, Lipton MJ, Higgins CB. Magnetic resonance imaging and 68. Kiziltan HT, Theodoro DA, Warnes CA, O’Leary PW, Anderson BJ,
computed tomography in congenital heart disease. Semin Roentgenol. Danielson GK. Late results of bioprosthetic tricuspid valve replacement
1985;20:272–282. in Ebstein’s anomaly. Ann Thorac Surg. 1998;66:1539 –1545.
46. Hebe J. Ebstein’s anomaly in adults: arrhythmias: diagnosis and thera- 69. Ahel V, Kilvain S, Rozmanic V, Taylor JF, Vukas D. Right atrial
peutic approach. Thorac Cardiovasc Surg. 2000;48:214 –219. reduction for tachyarrhythmias in Ebstein’s anomaly in infancy. Tex
47. Ho SY, Goltz D, McCarthy K, Cook AC, Connell MG, Smith A, Heart Inst J. 2001;28:297–300.
Anderson RH. The atrioventricular junctions in Ebstein malformation. 70. Bockeria L, Golukhova E, Dadasheva M, Revishvili A, Levant A, Bazaev
V, Rzaev F, Kakuchaya T. Advantages and disadvantages of one-stage
Heart. 2000;83:444 – 449.
and two-stage surgery for arrhythmias and Ebstein’s anomaly. Eur J Car-
48. Anderson KR, Lie JT. The right ventricular myocardium in Ebstein’s
diothorac Surg. 2005;28:536 –540.
anomaly: a morphometric histopathologic study. Mayo Clin Proc. 1979;
71. Knott-Craig CJ, Overholt ED, Ward KE, Ringewald JM, Baker SS,
54:181–184.
Razook JD. Repair of Ebstein’s anomaly in the symptomatic neonate: an
49. Watson H. Natural history of Ebstein’s anomaly of tricuspid valve in
evolution of technique with 7-year follow-up. Ann Thorac Surg. 2002;
childhood and adolescence: an international co-operative study of 505 73:1786 –1792.
cases. Br Heart J. 1974;36:417– 427. 72. Starnes VA, Pitlick PT, Bernstein D, Griffin ML, Choy M, Shumway NE.
50. Smith WM, Gallagher JJ, Kerr CR, Sealy WC, Kasell JH, Benson DW Jr, Ebstein’s anomaly appearing in the neonate: a new surgical approach.
Reiter MJ, Sterba R, Grant AO. The electrophysiologic basis and man- J Thorac Cardiovasc Surg. 1991;101:1082–1087.
agement of symptomatic recurrent tachycardia in patients with Ebstein’s 73. Boston US, Dearani JA, O’Leary PW, Driscoll DJ, Danielson GK. Tri-
Downloaded from http://circ.ahajournals.org/ by guest on October 20, 2016
anomaly of the tricuspid valve. Am J Cardiol. 1982;49:1223–1234. cuspid valve repair for Ebstein’s anomaly in young children: a 30-year
51. Graham TP Jr, Bricker JT, James FW, Strong WB. Twenty-Sixth experience. Ann Thorac Surg. 2006;81:690 – 696.
Bethesda Conference: recommendations for determining eligibility for 74. Atiq M, Lai L, Lee KJ, Benson LN. Transcatheter closure of atrial septal
competition in athletes with cardiovascular abnormalities: Task Force 1: defects in children with a hypoplastic right ventricle. Catheter Cardiovasc
congenital heart disease. Med Sci Sports Exerc. 1994;26(suppl): Interv. 2005;64:112–116.
S246 –S253. 75. Allen MR, Hayes DL, Warnes CA, Danielson GK. Permanent pacing in
52. Reich JD, Auld D, Hulse E, Sullivan K, Campbell R, for the Pediatric Ebstein’s anomaly. Pacing Clin Electrophysiol. 1997;20:1243–1246.
Electrophysiology Society. The Pediatric Radiofrequency Ablation Reg- 76. Kumar AE, Fyler DC, Miettinen OS, Nadas AS. Ebstein’s anomaly:
istry’s experience with Ebstein’s anomaly. J Cardiovasc Electrophysiol. clinical profile and natural history. Am J Cardiol. 1971;28:84 –95.
1998;9:1370 –1377. 77. Bialostozky D, Horwitz S, Espino-Vela J. Ebstein’s malformation of the
53. Cappato R, Schluter M, Weiss C, Antz M, Koschyk DH, Hofmann T, tricuspid valve: a review of 65 cases. Am J Cardiol. 1972;29:826 – 836.
Kuck KH. Radiofrequency current catheter ablation of accessory atrio- 78. Attie F, Rosas M, Rijlaarsdam M, Buendia A, Zabal C, Kuri J, Granados
ventricular pathways in Ebstein’s anomaly. Circulation. 1996;94: N. The adult patient with Ebstein anomaly: outcome in 72 unoperated
376 –383. patients. Medicine (Baltimore). 2000;79:27–36.
54. Chetaille P, Walsh EP, Triedman JK. Outcomes of radiofrequency 79. McElhinney DB, Salvin JW, Colan SD, Thiagarajan R, Crawford EC,
catheter ablation of atrioventricular reciprocating tachycardia in patients Marcus EN, del Nido PJ, Tworetzky W. Improving outcomes in fetuses
with congenital heart disease. Heart Rhythm. 2004;1:168 –173. and neonates with congenital displacement (Ebstein’s malformation) or
55. Khositseth A, Danielson GK, Dearani JA, Munger TM, Porter CJ. dysplasia of the tricuspid valve. Am J Cardiol. 2005;96:582–586.
Supraventricular tachyarrhythmias in Ebstein anomaly: management and 80. Celermajer DS, Dodd SM, Greenwald SE, Wyse RK, Deanfield JE.
outcome. J Thorac Cardiovasc Surg. 2004;128:826 – 833. Morbid anatomy in neonates with Ebstein’s anomaly of the tricuspid
56. Greason KL, Dearani JA, Theodoro DA, Porter CB, Warnes CA, valve: pathophysiologic and clinical implications. J Am Coll Cardiol.
1992;19:1049 –1053.
Danielson GK. Surgical management of atrial tachyarrhythmias asso-
81. Yetman AT, Freedom RM, McCrindle BW. Outcome in cyanotic
ciated with congenital cardiac anomalies: Mayo Clinic experience. Semin
neonates with Ebstein’s anomaly. Am J Cardiol. 1998;81:749 –754.
Thorac Cardiovasc Surg Pediatr Card Surg Annu. 2003;6:59 –71.
82. Celermajer DS, Cullen S, Sullivan ID, Spiegelhalter DJ, Wyse RK,
57. Schiebler GL, Adams P Jr, Anderson RC, Amplatz K, Lester RG. Clinical
Deanfield JE. Outcome in neonates with Ebstein’s anomaly. J Am Coll
study of twenty-three cases of Ebstein’s anomaly of the tricuspid valve.
Cardiol. 1992;19:1041–1046.
Circulation. 1959;19:165–187. 83. Deanfield J, Thaulow E, Warnes C, Webb G, Kolbel F, Hoffman A,
58. Barnard CN, Schrire V. Surgical correction of Ebstein’s malformation Sorenson K, Kaemmerer H, Thilen U, Bink-Boelkens M, Iserin L, Daliento
with prosthetic tricuspid valve. Surgery. 1963;54:302–308. L, Silove E, Redington A, Vouhe P, Priori S, Alonso MA, Blanc J-J, Budaj
59. Hardy KL, May IA, Webster CA, Kimball KG. Ebstein’s anomaly: a A, Cowie M, Deckers J, Fernandez Burgos E, Lekakis J, Lindahl B, Mazzotta
functional concept and successful definitive repair. J Thorac Cardiovasc G, Morais J, Oto A, Smiseth O, Trappe HJ, Klein W, Blömstrom-Lundqvist
Surg. 1964;48:927–940. C, de Backer G, Hradec J, Parkhomenko A, Presbitero P, Torbicki A, for the
60. Theodoro DA, Danielson GK, Kiziltan HT, Driscoll DJ, Mair DD, Task Force on the Management of Grown Up Congenital Heart Disease of
Warnes CA, Anderson BJ. Surgical management of Ebstein’s anomaly: a the European Society of Cardiology, ESC Committee for Practice
25-year experience. Circulation. 1997;96(suppl I):I–507. Abstract. Guidelines. Management of grown up congenital heart disease. Eur Heart J.
61. Danielson GK, Maloney JD, Devloo RA. Surgical repair of Ebstein’s 2003;24:1035–1084.
anomaly. Mayo Clin Proc. 1979;54:185–192. 84. Therrien J, Dore A, Gersony W, Iserin L, Liberthson R, Meijboom F,
62. Dearani JA, Danielson GK. Tricuspid valve repair for Ebstein’s anomaly. Colman JM, Oechslin E, Taylor D, Perloff J, Somerville J, Webb GD, for
Oper Tech Thorac Cardiovasc Surg. 2003;8:188 –192. the Canadian Cardiovascular Society. CCS Consensus Conference 2001
63. Dearani JA, Danielson GK. Ebstein’s anomaly. In: Sellke FW, del Nido update: recommendations for the management of adults with congenital
PJ, Swanson SJ, eds. Sabiston & Spencer Surgery of the Chest. 7th ed. heart disease: part I. Can J Cardiol. 2001;17:940 –959.
Philadelphia, Pa: Elsevier Saunders; 2005;2:2223–2235. 85. Landzberg MJ, Murphy DJ Jr., Davidson WR Jr, Jarcho JA, Krumholz
64. Chauvaud S, Berrebi A, d’Attellis N, Mousseaux E, Hernigou A, Carpentier HM, Mayer JE Jr, Mee RB, Sahn DJ, Van Hare GF, Webb GD, Williams
A. Ebstein’s anomaly: repair based on functional analysis. Eur J Cardio- RG. Task Force 4: organization of delivery systems for adults with
thorac Surg. 2003;23:525–531. congenital heart disease. J Am Coll Cardiol. 2001;37:1187–1193.
65. Ullmann MV, Born S, Sebening C, Gorenflo M, Ulmer HE, Hagl S.
Ventricularization of the atrialized chamber: a concept of Ebstein’s KEY WORDS: atrium 䡲 heart defects, congenital 䡲 hemodynamics
anomaly repair. Ann Thorac Surg. 2004;78:918 –924. 䡲 pathology 䡲 pediatrics
Ebstein's Anomaly
Christine H. Attenhofer Jost, Heidi M. Connolly, Joseph A. Dearani, William D. Edwards and
Gordon K. Danielson
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doi: 10.1161/CIRCULATIONAHA.106.619338
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