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Ebstein's anomaly
Ebstein’s Anomaly A Historical Overview ROBERT H. FELDT, M.D. Section of Pediatric Cardiology Mayo Clinic and Mayo Foundation Rochester. Minnesota
After the original description by Ebstein’ in 1866, there were sporadic reports of additional cases of Ebstein’s disease, all of which were noted at autopsy. The fact that the anomaly is relatively rare was attested to by the absence of any Ebstein’s disease in Maude Abbott’s2 series of 1000 congenital heart defects reported in 1936. Yater and Shapiro,3 reporting a case in 1937 in which the diagnosis of Ebstein’s malformation was made at autopsy, noted that “it would appear to be impossible to make the diagnosis of Ebstein’s disease during life.” Yater and Shapiro’s case was the 16th reported in the world literature. The paper key to the clinical recognition of Ebstein’s anomaly was published by Engle and coworkers,4 including Helen B. Taussig, in 1950. This paper should be required reading for all students interested in this subject. These authors reported on the autopsy findings in three cases of Ebstein’s anomaly. They reconstructed the presenting signs and symptoms so that future cases could be suspected from clinical evidence. They stated, “The diagnosis is of more than academic interest, because when there is cyanosis and a diminished pulmonary blood flow, this malformation may resemble the tetralogy of Fallot.” In describing the clinical syndrome, the authors stated: The outstanding clinical manifestations are the delayed and insidious onset of cyanosis, which is out of proportion to the mild dyspnea; the easy fatigability, and the infrequency of Address correspondence to Robert H. Feldt, M.D., Section of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905.
squatting to rest when tired. Physical examination shows excessive right heart enlargement, poor heart sounds usually associated only with a systolic murmur but sometimes also with a diastolic murmur and often with a gallop rhythm, and absence of signs of tricuspid insufficiency.
This classic description remains valid today, 42 years since its publication, and represents an excellent example of deductive reasoning in correlating the pathologic anatomy with the clinical presentation. In 1951, Soloff and coworkers,5 using the description of Engle et al.,4 published the first case of Ebstein’s malformation recognized during life. An angiocardiogram demonstrated the enlarged right atrium and an abnormally positioned tricuspid valve. Subsequently, a number of clinical series of patients with Ebstein’s anomaly were reported.6-8 In 1952, van Lingen and coworker@ published catheterization findings in three patients; they noted that pressure tracings during right heart catheterization were distinctive and that two distinct pressure tracings within the right ventricle were strongly suggestive of the diagnosis. Angiocardiography was thought to be dangerous in patients with Ebstein’s anomaly and was not considered particularly useful in all cases. Other techniques used to establish the diagnosis included intracavitary electrocardiography, as reported by Hernandez et a1.9 in 1958. They described the classic findings that correlated ventricular pressure with ventricular electrocardiograms in the so-called atrialized portion of the right ventricle. Prog Pediatr Cnrdiol 1993; 2(1):2-4 Copyright 0 1993 by Andover Medical
Ebstein’s Anomaly
The occurrence of Wolff-Parkinson-White syndrome in Ebstein’s malformation was first mentioned by Sodi-Pallares and Calder’O in 1956 and was also noted in a series of 23 cases of Ebstein’s anomaly published by Schiebler et al. in 1959.7 In that series, 6 of 23 patients had Wolff-ParkinsonWhite syndrome detected on electrocardiograms. The relative rarity of this anomaly was documented by Elliot and coworkers” in 1966, when they noted 12 cases of Ebstein’s disease among 560 cases of cyanotic congenital heart disease, for a relative incidence of 0.8% of cyanotic lesions. Soon after its development, echocardiography became established as the method by which most diagnoses would be made. By the early 197Os, reports of echocardiographic diagnosis of Ebstein’s anomaly were published.12,13 In 1973, Lundstr8m,13 a pioneer in echocardiography, published a detailed report of the M-mode findings in patients with Ebstein’s anomaly. Reports on two-dimensional echocardiographic studies followed.‘4-*6 Echocardiography allowed for the diagnosis of milder forms of Ebstein’s anomaly. Shiina et a1.15established criteria by which echocardiographic findings could predict whether a tricuspid valve was suitable for valvuloplasty to repair the defect. Because of the rapid development of fetal echocardiography, an accurate diagnosis of this anomaly can now be made before birth.16 It is important to consider electrophysiologic studies for patients with Ebstein’s malformation and preexcitation who have a history of episodic tachycardia.17 These patients can have repair of the tricuspid valve and ablation of a bypass tract at the same time. Experience with interruption of bypass tracts at the time of surgery for Ebstein’s malformation has been promising. The development of surgery for Ebstein’s malformation was slow to evolve. The first reports advocated valve replacement with a mechanical valve.18 With the more recent use of valvuloplasty techniques, as advocated by Danielson, patients can be operated on without valve replacement.‘9-21 Perioperative mortality with valvuloplasty has been low and prognosis after operation has been relatively The indications for surgery for good to date. 22~23 Ebstein’s malformation are still evolving. Patients who have significant symptoms, progressive cardiomegaly, or significant arrhythmia can all be considered for operative repair.
3
Ebstein’s anomaly is relatively rare. Until the major contribution of Engle and coworkers,4 it was not well understood clinically. With the rapid development of clinical and diagnostic expertise in the 1950s and 196Os, the level of understanding improved considerably. Currently, a clinical syndrome can be recognized and a diagnosis by echocardiography made with a high degree of confidence. Electrocardiographic evidence of preexcitation and a history of episodic tachycardia justify electrophysiologic investigation to identify bypass tracts. Furthermore, the operative management of this anomaly has become safer and has, thus far, had a significant impact on clinical status.
REFERENCES 1. Ebstein W. Uber einen sehr seltenen Fall von Insufficiency der Valvula Tricspidalis, bedengt durch eine angebome hochgradige Misolrldung derselben. Arch Fahrenheit Anat Physiology u Wissench Med. 1866; 238. 2. Abbott MES. Atlas of Congenital Cardiac Diseases. New York, NY: American Heart Association; 1936. 3. Yater WM, Shapiro MJ. Congenital displacement of the tricuspid valve (Ebstein’s disease): review and report of a case with electrocardiographic abnormalities and detailed histologic study of the conduction system. Ann Intern Med. 1937;11:1043-1062. 4. Engle MA, Payne TPB, Bruins C, Taussig HB. Ebstein’s anomaly of the tricuspid valve: report of three cases and analysis of clinical syndrome. Circulation. 1950;1:1246-1260. 5. Soloff LA, Stauffer HM, Zatuchni J. Ebstein’s disease: report of the first case diagnosed during life. Am J Med Sci. 1951;222:554-561. 6. van Lingen B, McGregor M, Kaye J, et al. Clinical and cardiac catheterization findings compatible with Ebstein’s anomaly of the tricuspid valve: a report of two cases. Am Heart 1. 1952;43:77-88. 7. Schiebler GL, Adams P Jr, Anderson RC, Amplatz K, Lester RG. Clinical study of twenty-three cases of Ebstein’s anomaly of the tricuspid valve. Circulation. 1959;19:165-187. 8. Bialostozky D, Horwitz S, Espino-Vela J. Ebstein’s malformation of the tricuspid valve: a review of 65 cases. Am J Cardiol. 1972;29:826-836. 9. Hemandez FA, Rochkind R, Cooper HR. The intracavitary electrocardiogram in the diagnosis of Ebstein’s anomaly. Am ] Cardiol. 1958;1:181-190. 10. Sodi-Pallares D, Calder RM, eds. New Basis of Electrocardiography. St. Louis, MO: CV Mosby, 1956: 270.
4
Progress in Pediatric Cardiology
11. Elliot RS, Anderson RC, Adams P Jr, Edwards JE. Heart disease in the first year of life. In: Cassels DE, ed. The Heart and Circulation in the Newborn and Infant. New York, NY: Grune & Stratton; 1966:243254. 12. Kotler MN, Tabatznik B. Recognition of Ebstein’s anomaly by ultrasound technique. Circulation. 197l;44(suppl 2):II-34. 13. Lundstrom N-R. Echocardiography in the diagnosis of Ebstein’s anomaly of the tricuspid valve. Circulation. 1973;47:597-605. 14. Hirschklau MJ, Sahn DJ, Hagan AD, Williams DE, Friedman WF. Cross-sectional echocardiographic features of Ebstein’s anomaly of the tricuspid valve. Am J Cardiol. 1977;40:400-404. 15. Shiina A, Seward JB, Tajik AJ, Hagler DJ, Danielson GK. Two-dimensional echocardiographic-surgical correlation in Ebstein’s anomaly: preoperative determination of patients requiring tricuspid valve plication vs replacement. Circulation. 1983;68:534-544. 16. Robertson DA, Silverman NH. Ebstein’s anomaly: echocardiographic and clinical features in the fetus andneonate. JAm CoJJ Cardiol. 1989;14:1300-1307. 17. Smith WM, Gallagher JJ, Kerr CR, et al. The electrophysiologic basis and management of symptomatic
recurrent tachycardia in patients with Ebstein’s anomaly of the tricuspid valve. Am J Cardiol. 1982; 49~1223-1234. 18. Barnard CN, Schrire V. Surgical correction of Ebstein’s malformation with prosthetic tricuspid valve. Surgery. 1963;54:302-308. 19. Hardy KL, May IA, Webster CA, Kimball KG. Ebstein’s anomaly: a functional concept and successful definitive repair. J Thorac Cardiovasc Surg. 1964; 48~927-940. 20. Davidson GK, Fuster V. Surgical repair of Ebstein’s anomaly. Ann Surg. 1982;196:499-504. 21. Danielson GK. Ebstein’s anomaly: editorial comments and personal observation. Ann Thorac Surg. 1982;34:396-400. 22. Mair DD, Seward JB, Driscoll DJ, Danielson GK. Surgical repair of Ebstein’s anomaly: selection of patients and early and late operative results. Circulation. 1985;72(suppI 2):II-70-76. 23. Driscoll DJ, Mottram CD, Danielson GK. Spectrum of exercise intolerance in 45 patients with Ebstein’s anomaly and observations on exercise tolerance in 11 patients after surgical repair. J Am ColJ Cardiol. 1988;11:831-836,
After the original description by Ebstein’ in 1866, there were sporadic reports of additional cases of Ebstein’s disease, all of which were noted at autopsy. The fact that the anomaly is relatively rare was attested to by the absence of any Ebstein’s disease in Maude Abbott’s2 series of 1000 congenital heart defects reported in 1936. Yater and Shapiro,3 reporting a case in 1937 in which the diagnosis of Ebstein’s malformation was made at autopsy, noted that “it would appear to be impossible to make the diagnosis of Ebstein’s disease during life.” Yater and Shapiro’s case was the 16th reported in the world literature. The paper key to the clinical recognition of Ebstein’s anomaly was published by Engle and coworkers,4 including Helen B. Taussig, in 1950. This paper should be required reading for all students interested in this subject. These authors reported on the autopsy findings in three cases of Ebstein’s anomaly. They reconstructed the presenting signs and symptoms so that future cases could be suspected from clinical evidence. They stated, “The diagnosis is of more than academic interest, because when there is cyanosis and a diminished pulmonary blood flow, this malformation may resemble the tetralogy of Fallot.” In describing the clinical syndrome, the authors stated: The outstanding clinical manifestations are the delayed and insidious onset of cyanosis, which is out of proportion to the mild dyspnea; the easy fatigability, and the infrequency of Address correspondence to Robert H. Feldt, M.D., Section of Pediatric Cardiology, Mayo Clinic, Rochester, MN 55905.
squatting to rest when tired. Physical examination shows excessive right heart enlargement, poor heart sounds usually associated only with a systolic murmur but sometimes also with a diastolic murmur and often with a gallop rhythm, and absence of signs of tricuspid insufficiency.
This classic description remains valid today, 42 years since its publication, and represents an excellent example of deductive reasoning in correlating the pathologic anatomy with the clinical presentation. In 1951, Soloff and coworkers,5 using the description of Engle et al.,4 published the first case of Ebstein’s malformation recognized during life. An angiocardiogram demonstrated the enlarged right atrium and an abnormally positioned tricuspid valve. Subsequently, a number of clinical series of patients with Ebstein’s anomaly were reported.6-8 In 1952, van Lingen and coworker@ published catheterization findings in three patients; they noted that pressure tracings during right heart catheterization were distinctive and that two distinct pressure tracings within the right ventricle were strongly suggestive of the diagnosis. Angiocardiography was thought to be dangerous in patients with Ebstein’s anomaly and was not considered particularly useful in all cases. Other techniques used to establish the diagnosis included intracavitary electrocardiography, as reported by Hernandez et a1.9 in 1958. They described the classic findings that correlated ventricular pressure with ventricular electrocardiograms in the so-called atrialized portion of the right ventricle. Prog Pediatr Cnrdiol 1993; 2(1):2-4 Copyright 0 1993 by Andover Medical
Ebstein’s Anomaly
The occurrence of Wolff-Parkinson-White syndrome in Ebstein’s malformation was first mentioned by Sodi-Pallares and Calder’O in 1956 and was also noted in a series of 23 cases of Ebstein’s anomaly published by Schiebler et al. in 1959.7 In that series, 6 of 23 patients had Wolff-ParkinsonWhite syndrome detected on electrocardiograms. The relative rarity of this anomaly was documented by Elliot and coworkers” in 1966, when they noted 12 cases of Ebstein’s disease among 560 cases of cyanotic congenital heart disease, for a relative incidence of 0.8% of cyanotic lesions. Soon after its development, echocardiography became established as the method by which most diagnoses would be made. By the early 197Os, reports of echocardiographic diagnosis of Ebstein’s anomaly were published.12,13 In 1973, Lundstr8m,13 a pioneer in echocardiography, published a detailed report of the M-mode findings in patients with Ebstein’s anomaly. Reports on two-dimensional echocardiographic studies followed.‘4-*6 Echocardiography allowed for the diagnosis of milder forms of Ebstein’s anomaly. Shiina et a1.15established criteria by which echocardiographic findings could predict whether a tricuspid valve was suitable for valvuloplasty to repair the defect. Because of the rapid development of fetal echocardiography, an accurate diagnosis of this anomaly can now be made before birth.16 It is important to consider electrophysiologic studies for patients with Ebstein’s malformation and preexcitation who have a history of episodic tachycardia.17 These patients can have repair of the tricuspid valve and ablation of a bypass tract at the same time. Experience with interruption of bypass tracts at the time of surgery for Ebstein’s malformation has been promising. The development of surgery for Ebstein’s malformation was slow to evolve. The first reports advocated valve replacement with a mechanical valve.18 With the more recent use of valvuloplasty techniques, as advocated by Danielson, patients can be operated on without valve replacement.‘9-21 Perioperative mortality with valvuloplasty has been low and prognosis after operation has been relatively The indications for surgery for good to date. 22~23 Ebstein’s malformation are still evolving. Patients who have significant symptoms, progressive cardiomegaly, or significant arrhythmia can all be considered for operative repair.
3
Ebstein’s anomaly is relatively rare. Until the major contribution of Engle and coworkers,4 it was not well understood clinically. With the rapid development of clinical and diagnostic expertise in the 1950s and 196Os, the level of understanding improved considerably. Currently, a clinical syndrome can be recognized and a diagnosis by echocardiography made with a high degree of confidence. Electrocardiographic evidence of preexcitation and a history of episodic tachycardia justify electrophysiologic investigation to identify bypass tracts. Furthermore, the operative management of this anomaly has become safer and has, thus far, had a significant impact on clinical status.
REFERENCES 1. Ebstein W. Uber einen sehr seltenen Fall von Insufficiency der Valvula Tricspidalis, bedengt durch eine angebome hochgradige Misolrldung derselben. Arch Fahrenheit Anat Physiology u Wissench Med. 1866; 238. 2. Abbott MES. Atlas of Congenital Cardiac Diseases. New York, NY: American Heart Association; 1936. 3. Yater WM, Shapiro MJ. Congenital displacement of the tricuspid valve (Ebstein’s disease): review and report of a case with electrocardiographic abnormalities and detailed histologic study of the conduction system. Ann Intern Med. 1937;11:1043-1062. 4. Engle MA, Payne TPB, Bruins C, Taussig HB. Ebstein’s anomaly of the tricuspid valve: report of three cases and analysis of clinical syndrome. Circulation. 1950;1:1246-1260. 5. Soloff LA, Stauffer HM, Zatuchni J. Ebstein’s disease: report of the first case diagnosed during life. Am J Med Sci. 1951;222:554-561. 6. van Lingen B, McGregor M, Kaye J, et al. Clinical and cardiac catheterization findings compatible with Ebstein’s anomaly of the tricuspid valve: a report of two cases. Am Heart 1. 1952;43:77-88. 7. Schiebler GL, Adams P Jr, Anderson RC, Amplatz K, Lester RG. Clinical study of twenty-three cases of Ebstein’s anomaly of the tricuspid valve. Circulation. 1959;19:165-187. 8. Bialostozky D, Horwitz S, Espino-Vela J. Ebstein’s malformation of the tricuspid valve: a review of 65 cases. Am J Cardiol. 1972;29:826-836. 9. Hemandez FA, Rochkind R, Cooper HR. The intracavitary electrocardiogram in the diagnosis of Ebstein’s anomaly. Am ] Cardiol. 1958;1:181-190. 10. Sodi-Pallares D, Calder RM, eds. New Basis of Electrocardiography. St. Louis, MO: CV Mosby, 1956: 270.
4
Progress in Pediatric Cardiology
11. Elliot RS, Anderson RC, Adams P Jr, Edwards JE. Heart disease in the first year of life. In: Cassels DE, ed. The Heart and Circulation in the Newborn and Infant. New York, NY: Grune & Stratton; 1966:243254. 12. Kotler MN, Tabatznik B. Recognition of Ebstein’s anomaly by ultrasound technique. Circulation. 197l;44(suppl 2):II-34. 13. Lundstrom N-R. Echocardiography in the diagnosis of Ebstein’s anomaly of the tricuspid valve. Circulation. 1973;47:597-605. 14. Hirschklau MJ, Sahn DJ, Hagan AD, Williams DE, Friedman WF. Cross-sectional echocardiographic features of Ebstein’s anomaly of the tricuspid valve. Am J Cardiol. 1977;40:400-404. 15. Shiina A, Seward JB, Tajik AJ, Hagler DJ, Danielson GK. Two-dimensional echocardiographic-surgical correlation in Ebstein’s anomaly: preoperative determination of patients requiring tricuspid valve plication vs replacement. Circulation. 1983;68:534-544. 16. Robertson DA, Silverman NH. Ebstein’s anomaly: echocardiographic and clinical features in the fetus andneonate. JAm CoJJ Cardiol. 1989;14:1300-1307. 17. Smith WM, Gallagher JJ, Kerr CR, et al. The electrophysiologic basis and management of symptomatic
recurrent tachycardia in patients with Ebstein’s anomaly of the tricuspid valve. Am J Cardiol. 1982; 49~1223-1234. 18. Barnard CN, Schrire V. Surgical correction of Ebstein’s malformation with prosthetic tricuspid valve. Surgery. 1963;54:302-308. 19. Hardy KL, May IA, Webster CA, Kimball KG. Ebstein’s anomaly: a functional concept and successful definitive repair. J Thorac Cardiovasc Surg. 1964; 48~927-940. 20. Davidson GK, Fuster V. Surgical repair of Ebstein’s anomaly. Ann Surg. 1982;196:499-504. 21. Danielson GK. Ebstein’s anomaly: editorial comments and personal observation. Ann Thorac Surg. 1982;34:396-400. 22. Mair DD, Seward JB, Driscoll DJ, Danielson GK. Surgical repair of Ebstein’s anomaly: selection of patients and early and late operative results. Circulation. 1985;72(suppI 2):II-70-76. 23. Driscoll DJ, Mottram CD, Danielson GK. Spectrum of exercise intolerance in 45 patients with Ebstein’s anomaly and observations on exercise tolerance in 11 patients after surgical repair. J Am ColJ Cardiol. 1988;11:831-836,