DOI: 10.1148/radiol.2313000926
(Radiology 2004;231:747-751.)
© RSNA,
Case 71: Ebstein Anomaly1
Joris P. A. Beerepoot, MD and
Pamela K. Woodard, MD
1 From the Mallinckrodt Institute of Radiology, Washington University School of Medicine, 510 S Kingshighway Blvd, St Louis, MO 63110. Received May 10, 2000; revision requested June 30; revision received January 15, 2003; accepted March 3. Address correspondence to P.K.W. (e-mail: woodardp@mir.wustl.edu).
Index terms: Diagnosis Please • Ebstein anomaly, 531.1636, 531.1751 • Heart, abnormalities, 523.1751, 531.1636 • Heart, flow dynamics, 523.1751, 531.1636 • Heart, ventricles, 523.1751
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HISTORY
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A 22-year-old man who had a history of exercise intolerance since childhood presented with progressive exertional dyspnea. Physical examination revealed a holosystolic murmur, and electrocardiography demonstrated a right bundle-branch block. Magnetic resonance (MR) imaging was performed. Chest radiography revealed marked cardiomegaly.
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IMAGING FINDINGS
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The right atrium (Fig 1) and the base of the right ventricle are enlarged, with inferior ectopic displacement of dysplastic distal anterior and septal tricuspid valve leaflets. Both of these valve leaflets are fused to portions of the apical myocardium of the right ventricle (Fig 2). The tricuspid valve annulus and proximal portion of the anterior valve leaflet, however, are in their normal locations. The posterior tricuspid valve leaflet is not visible. Both black-blood anatomic and bright-blood cine MR images show a widened tricuspid valve annulus (Figs 2, 3). The displaced valve leaflets result in enlargement of the base of the right ventricle, which ceases to function. Cine images also show bowing of the ventricular septum (Fig 3). This is caused by the increase in heart volume in the right side of the heart. A small secundum atrial septal defect is also present (Fig 2). There is no evidence of ventricular septal defect. The left ventricle is normal in size. The pulmonary artery and aorta are normal in size.
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Figure 2a. Selected contiguous transverse T2-weighted black-blood half-Fourier turbo spin-echo, or HASTE, MR images obtained through the heart (1,000/43; flip angle, 180°). (a) The aorta (Ao) and the main pulmonary artery (PA) are shown. Of note, the pulmonary artery is of normal size. (b) A small secundum atrial septal defect (arrow) is also present. (c) An additional image shows an enlarged right atrium (RA). The base of the right ventricle and right ventricular outflow tract are enlarged (aRV). This has occurred because of dysplastic and displaced tricuspid valve leaflets. The left ventricle (LV) is normal in size. The tricuspid valve annulus and proximal portion of the anterior leaflet (arrowheads) remain in a normal anatomic location. (d) The distal anterior and septal leaflets (arrow) are inferiorly displaced, which results in a nonfunctioning portion of the right ventricle. The posterior leaflet is not shown.
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Figure 2b. Selected contiguous transverse T2-weighted black-blood half-Fourier turbo spin-echo, or HASTE, MR images obtained through the heart (1,000/43; flip angle, 180°). (a) The aorta (Ao) and the main pulmonary artery (PA) are shown. Of note, the pulmonary artery is of normal size. (b) A small secundum atrial septal defect (arrow) is also present. (c) An additional image shows an enlarged right atrium (RA). The base of the right ventricle and right ventricular outflow tract are enlarged (aRV). This has occurred because of dysplastic and displaced tricuspid valve leaflets. The left ventricle (LV) is normal in size. The tricuspid valve annulus and proximal portion of the anterior leaflet (arrowheads) remain in a normal anatomic location. (d) The distal anterior and septal leaflets (arrow) are inferiorly displaced, which results in a nonfunctioning portion of the right ventricle. The posterior leaflet is not shown.
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Figure 2c. Selected contiguous transverse T2-weighted black-blood half-Fourier turbo spin-echo, or HASTE, MR images obtained through the heart (1,000/43; flip angle, 180°). (a) The aorta (Ao) and the main pulmonary artery (PA) are shown. Of note, the pulmonary artery is of normal size. (b) A small secundum atrial septal defect (arrow) is also present. (c) An additional image shows an enlarged right atrium (RA). The base of the right ventricle and right ventricular outflow tract are enlarged (aRV). This has occurred because of dysplastic and displaced tricuspid valve leaflets. The left ventricle (LV) is normal in size. The tricuspid valve annulus and proximal portion of the anterior leaflet (arrowheads) remain in a normal anatomic location. (d) The distal anterior and septal leaflets (arrow) are inferiorly displaced, which results in a nonfunctioning portion of the right ventricle. The posterior leaflet is not shown.
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Figure 2d. Selected contiguous transverse T2-weighted black-blood half-Fourier turbo spin-echo, or HASTE, MR images obtained through the heart (1,000/43; flip angle, 180°). (a) The aorta (Ao) and the main pulmonary artery (PA) are shown. Of note, the pulmonary artery is of normal size. (b) A small secundum atrial septal defect (arrow) is also present. (c) An additional image shows an enlarged right atrium (RA). The base of the right ventricle and right ventricular outflow tract are enlarged (aRV). This has occurred because of dysplastic and displaced tricuspid valve leaflets. The left ventricle (LV) is normal in size. The tricuspid valve annulus and proximal portion of the anterior leaflet (arrowheads) remain in a normal anatomic location. (d) The distal anterior and septal leaflets (arrow) are inferiorly displaced, which results in a nonfunctioning portion of the right ventricle. The posterior leaflet is not shown.
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Figure 3a. Transverse bright-blood gradient-recalled-echo cine MR images of the heart obtained at (a) diastole and (b) systole (45/2.9; flip angle, 15°) show leftward bowing of the interventricular septum (arrow), which is accentuated during systole. This finding is caused by an increase in right-sided blood volume and pressure.
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Figure 3b. Transverse bright-blood gradient-recalled-echo cine MR images of the heart obtained at (a) diastole and (b) systole (45/2.9; flip angle, 15°) show leftward bowing of the interventricular septum (arrow), which is accentuated during systole. This finding is caused by an increase in right-sided blood volume and pressure.
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Although less demonstrable on individual frames, cine images viewed as a loop showed regurgitant blood flowing from the right ventricle into the right atrium during systole.
A standard chest radiograph obtained at the time of the MR examination (Fig 4) demonstrates a globular box-shaped heart, a finding that is consistent with the radiographic appearance of Ebstein anomaly.
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DISCUSSION
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The imaging findings and the patient’s clinical history make Ebstein anomaly the most likely diagnosis. Ebstein anomaly of the tricuspid valve is an uncommon congenital heart defect that occurs in approximately 0.5%–1.0% of patients with congenital heart disease (1). It is characterized by varying degrees of dysplasia and displacement of the tricuspid valve leaflets into the right ventricle. While the anterior leaflet is usually attached at the normal location, it is often large and dysplastic with the distal leaflet attached to portions of the right ventricular apex, abnormally placed chordae, or moderator band (2). In addition, the tricuspid valve annulus is enlarged and is occasionally inferiorly displaced. These anatomic defects divide the right ventricle into two components: a thin-walled proximal portion of the right ventricle that becomes enlarged and a more distal component with decreased pumping capacity (1). Consequently, the portion of the right ventricle into which blood flows fails to function normally, and the outflow tract functions as the main pumping apparatus of the right ventricle. Although the right side of the heart is enlarged, the size of the pulmonary trunk is usually normal or small (3). Usually, left ventricular function is not substantially compromised. Most patients with Ebstein anomaly, however, have some septal bowing of the ventricular septum because of the increased volume of the right side of the heart, which may cause a reduction in diastolic volume of the left ventricle (4).
In 1866, Wilhelm Ebstein reported the findings of necropsy that was performed in a 19-year-old laborer who had cyanosis. The laborer had been dyspneic and had cardiac palpitations throughout his childhood (2). Although inferior displacement of tricuspid valve leaflets with enlargement of the right atrium and enlargement and dysfunction of the right ventricle are the classic features of Ebstein anomaly, the extent of both leaflet displacement and right ventricle enlargement varies widely. Other variables include leaflet size, structure, and extent of adherence to the right ventricle wall, as well as myocardial thickness and contractility of the right ventricle (5). In addition, the majority of patients have a concomitant patent foramen ovale or secundum atrial septal defect.
This spectrum of disease hints at the embryogenesis of Ebstein anomaly. The tricuspid valve leaflets are formed from both the right ventricular myocardium and the atrioventricular endocardial cushions. The anterior leaflet embryologically develops first, arising from the mesenchyme surrounding the atrioventricular orifice, while the posterior and septal leaflets develop later through creation of a diverticulum and undermining of the myocardium. In patients with Ebstein anomaly, it appears that undermining of the myocardium either has failed to occur or has occurred only partially. This leaves the entire septal and posterior valve leaflets and the distal anterior valve leaflet either low within the right ventricle or adherent to the right ventricle walls (7). The difference in the embryology of the valve leaflets is the likely reason why the proximal portion of the anterior valve leaflet is not usually displaced and the anterior leaflet is the most dysplastic valve leaflet.
Ebstein anomaly can also be a component of other complex cardiac diseases. It can be associated with pulmonary stenosis or atresia, ventricular septal defect, mitral stenosis, tetralogy of Fallot, and corrected or partial transposition of the great vessels (3).
Because of the variable features of Ebstein anomaly, clinical symptoms vary widely. If left untreated, almost half of the affected patients die during the 1st year of life, usually as a result of congestive heart failure (8). However, many adult patients, in whom the disease is incidentally noted, are asymptomatic. When symptoms do occur, they may include fatigue, dyspnea, and cyanosis. Physical examination may reveal a systolic murmur of tricuspid regurgitation, as well as a fixed split-second heart sound. Because of abnormalities in the conduction system, arrhythmias and conduction disturbances have been noted in 22%–42% of patients (9). The most common conduction abnormalities are Wolff-Parkinson-White syndrome (paroxysmal supraventricular reentrant tachycardia) and right bundle-branch block.
A number of possible methods exist for surgical correction of Ebstein anomaly. These include plication of the enlarged right ventricle and creation of a monocusp valve (10,11), creation of a bileaflet valve with displaced leaflet reattachment (6), restoration of the mobility of adherent leaflets (12), and prosthetic valve replacement (13). The type of repair depends on the extent of disease; therefore, MR imaging is useful in determining leaflet size and location, annulus and atrial size, and right ventricular function. In the past, echocardiography was the first modality used in the assessment of congenital heart disease; however, MR imaging currently provides details about anatomy that echocardiography cannot (14,15).
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FOOTNOTES
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Part 1 of this case appeared 4 months previously and may contain larger images.
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REFERENCES
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- Link KM, Herrera MA, D’Souza VJD, Formanek AG. MR imaging of Ebstein anomaly: results in four cases. AJR Am J Roentgenol 1988; 150:363-367.[Abstract/Free Full Text]
- Radford DJ, Graff RF, Neilson GH. Diagnosis and natural history of Ebstein’s anomaly. Br Heart J 1985; 54:517-22.[Abstract/Free Full Text]
- Lev M, Liberthson RR, Joseph RH, et al. The pathologic anatomy of Ebstein’s disease. Arch Pathol 1970; 90:334-343.[Medline]
- Benson LN, Child JS, Schwaiger M, Perloff JK, Schelbert HR. Left ventricular geometry and function in adults with Ebstein’s anomaly of the tricuspid valve. Circulation 1987; 75:353-359.[Abstract/Free Full Text]
- Choi YH, Park JH, Choe YH, Yoo SJ. MR imaging of Ebstein’s anomaly of the tricuspid valve. AJR Am J Roentgenol 1994; 163:539-543.[Abstract/Free Full Text]
- Carpentier A, Chauvaud S, Mac L, et al. A new reconstructive operation for Ebstein’s anomaly of the tricuspid valve. J Thorac Cardiovasc Surg 1988; 96:92-101.[Abstract]
- Anderson KR, Zuberbuhler JR, Anderson RH, Becker AE, Lie JT. Morphologic spectrum of Ebstein’s anomaly of the heart. Mayo Clin Proc 1979; 54:174-180.[Medline]
- Silva SR, Bruner JP, Moore CA. Prenatal diagnosis of Down’s syndrome in the presence of isolated Ebstein’s anomaly. Fetal Diagn Ther 1999; 14:149-151.[CrossRef][Medline]
- Reich JD, Auld D, Hulse E, Sullivan K, Campbell R. The pediatric radiofrequency ablation registry’s experience with Ebstein’s anomaly. J Cardiovasc Electrophysiol 1998; 9:1370-1377.[Medline]
- Hunter SW, Lillehei W. Ebstein’s malformation of the tricuspid valve. Dis Chest 1958; 33:297-304.
- Schmidt-Habelmann P, Meisner H, Struck E, et al. Results of valvuloplasty for Ebstein’s anomaly. Thorac Cardiovasc Surg 1981; 29:155-157.[Medline]
- Kaneko Y, Okabe H, Nagata N, et al. Repair of septal and posterior tricuspid leaflets in Ebstein’s anomaly. J Card Surg 1998; 13:229-235.[Medline]
- Augustin N, Schmidt-Habelmann P, Wottke M, et al. Results after surgical repair of Ebstein’s anomaly. Ann Thorac Surg 1997; 63:1650-1656.[Abstract/Free Full Text]
- Chung T. Assessment of cardiovascular anatomy in patients with congenital heart disease by magnetic resonance imaging. Pediatr Cardiol 2000; 21:18-26.[CrossRef][Medline]
- Didier D, Ratib O, Beghetti M, Oberhaensli I, Friedli B. Morphologic and functional evaluation of congenital heart disease by magnetic resonance imaging. J Magn Reson Imaging 1999; 10:639-655.[CrossRef][Medline]
Congratulations to the 91 individuals who submitted the most likely diagnosis (Ebstein Anomaly) for Diagnosis Please, Case 71. The names and locations of the individuals, as submitted, are as follows:
- Gholamali Afshang, MD, Tinley Park, Ill
- Dr Jorge Ahualli, Tucuman, Argentina
- Michael Aiello, MD, Canton, Ohio
- Oguz Akin, MD, New York, NY
- Okan Akinci, MD, Istanbul, Turkey
- Albert J. Alter, Madison, Wis
- Richard Benedikt, San Antonio, Tex
- Debra M. Berger, MD, New York, NY
- Larry Bernstein, MD, Gaithersburg, Md
- Lawrence M. Boxt, MD, New York, NY
- Eric L. Bressler, MD, Minnetonka, Minn
- Michael P. Buetow, MD, Okemos, Mich
- Peter Buetow, MD, Bellingham, Wash
- P. J. Cadman, High Wycombe, Bucks, United Kingdom
- María Jesús Díaz Candamio, Lã Coruña, Spain
- Michael H. Childress, MD, Silver Spring, Md
- Timothy Clark, Greenville, NC
- James W. Cole, MD, Cincinnati, Ohio
- Marco Cura, New York, NY
- Marc G. de Baets, MD, Lugano, Switzerland
- Peter C. De Baets, MD, Sijsele, Belgium
- Alejandro de la Vega, Lyon, France
- Wagner Diniz de Paula, MD, Brasilia, Brazil
- Jon De Witte, Phoenix, Ariz
- Mustafa Kemal Demir, MD, Istanbul, Turkey
- T. Dhurairaj, Pennsauken, NJ
- Dr Heratch Doumanian, Merrillville, Ind
- Steven L. Epner, MD, La Jolla, Calif
- Dr Mario Finazzo, Palermo, Italy
- Ricardo Fonseca, MD, Nashville, Tenn
- Arie Franco, MD, PhD, Pittsburgh, Pa
- Douglas Gardner, MD, Windsor, Ontario, Canada
- Ted Glass, MD, Ridgeland, Miss
- Mark Goldshein, MD, Andover, Mass
- Mary L. Grebenc, MD, Humacao, Puerto Rico
- Daniel Gridley, MD, Phoenix, Ariz
- John D. Grizzard, MD, Midlothian, Va
- Seiki Hamada, MD, Osaka, Japan
- Dr Andreas Harzheim, Cologne, Germany
- Maureen Heldmann, MD, Shreveport, La
- Vladislav Jankulov, MD, Dearborn, Mich
- Barry F. Jeffries, MD, Atlanta, Ga
- Hirotsugu Kado, Akita City, Japan
- Nurettin Katranci, MD, Aantalya, Turkey
- Jacobo Kirsch, MD, Cleveland, Ohio
- Ravishankar S. Konchada, Seattle, Wash
- Tasvinder Kour, MBBS, Chandigarh, India
- Mario Laguna, West Allis, Wis
- Margaret H. Lee, MD, Sylmar, Calif
- John T. Lim, MD, Newport Coast, Calif
- David A. Lisle, Brisbane, Australia
- N. B. S. Mani, MD, Nassau, Bahamas
- Ezequiel Martínez Lampe, Comodoro Rivadavia, Argentina
- Frank McKowne, MD, Vancouver, Wash
- Luis Méndez-Uriburu, MD, Tucumán, Argentina
- Edward Menges, Aptos, Calif
- Peter Miltner, MD, Heidelberg, Germany
- Manabu Minami, MD, Tokyo, Japan
- Sankar Ranjan Mondal, MD, Nassau, Bahamas
- Eduardo Mondello, MD, Buenos Aires, Argentina
- Tetsuo Nakayama, MD, Osaka, Japan
- Laura Oleaga, Bilbao, Spain
- Sanford M. Ornstein, MD, Phoenix, Ariz
- Juan C. Pallares, MD, Woodlands, Tex
- Harish Panicker, MD, Washington, DC
- Maria Olga Patino, MD, Houston, Tex
- Hilton Pittman, Pensacola, Fla
- Mario P. Pliego, MD, Bloomington, Minn
- Lorenz (Larry) Ramseyer, MD, Enid, Okla
- James Ravenel, MD, Charleston, SC
- Enrique Remartinez Escobar, MD, Melilla, Spain
- Randall E. Rhodes, MD, Belvidere, Ill
- N. Saravanan, MD, Chandigarh, India
- Pierre J. Sauvage, MD, Mâcon, France
- Stephen I. Schabel, MD, Charleston, SC
- Steven M. Schultz, MD, Ft. Worth, Tex
- Grady Shue, Heidelberg, Germany
- Stephen Smith, Peoria, Ill
- Paul Stark, MD, La Jolla, Calif
- John M. Stewart, Caribou, Me
- Kouichi Sugiyama, Hamamatsu, Japan
- Norio Takahashi, MD, Fukui, Japan
- Luis Tata, MD, Amadora, Portugal
- Douglas L. Teich, MD, Brookline, Mass
- Eugene Tong, MD, Austin, Tex
- Herminia Tyminski Al-Saffar, MD, Manama, Bahrain
- Hiroyuki Ueda, Kyoto, Japan
- Piet Vanhoenacker, MD, Aalst, Belgium
- Rolf Wyttenbach, MD, Bellinzona, Switzerland
- Joe Yut, Olathe, Kan
- Jeffrey H. Zapolsky, Oshkosh, Wis
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TOP
HISTORY
IMAGING FINDINGS
