eMedicine Specialties > Pediatrics: Cardiac Disease and Critical Care Medicine > Cardiology
Ebstein Anomaly
Updated: Mar 9, 2009
Introduction
Background
Ebstein anomaly of the tricuspid valve is a congenital heart lesion that involves abnormal attachments of the tricuspid valve leaflets to the annulus of the tricuspid valve.}
Frontal chest radiograph in an infant with severe Ebstein anomaly shows a large heart that leaves little space for the lung. Although the appearance is relatively nonspecific, the large heart should suggest Ebstein anomaly in the differential diagnosis.
An atrial septal defect (ASD) or patent foramen ovale (PFO) is present in 90% of the patients; pulmonary stenosis or atresia is present in 20-25% of the patients. The lesion was first described in 1866 by Wilhelm Ebstein and first referred to as Ebstein disease in 1927.
Pathophysiology
Hemodynamic consequences of this lesion are directly related to the severity of the leaflet displacement and the resultant tricuspid valve regurgitation. In the case of mild displacement and mild valvar regurgitation, the patient may be asymptomatic for many years. If, however, the leaflet displacement and valvar regurgitation are severe, pulmonary blood flow is decreased, the right atrium becomes dilated, blood is shunted right to left across an ASD or PFO, and the patient may become cyanotic. Congestive heart failure may also develop secondary to a small functional right ventricle and decreased right ventricular compliance. Additional problems in these patients include an association with paroxysmal supraventricular tachycardia (SVT), which occurs in 25-50% of patients, and 5-10% of these patients have Wolff-Parkinson-White (WPW) syndrome.
Frequency
United States
Incidence of Ebstein anomaly of the tricuspid valve is approximately 1:20,000 live births, accounting for less than 1% of all congenital heart defects.
Mortality/Morbidity
Intrauterine mortality of this lesion is as high as 85%. Mortality after birth is associated with significant cyanosis. Newborns with cyanosis have a mortality rate of as much as 70% compared with 15% for newborns without cyanosis. Death is related to low cardiac output, postoperative complications, and sudden death. Actuarial survival among liveborn patients has been reported to be 67% at 1 year and 59% at 10 years.
Race
In the Baltimore Washington Infant Study (BWIS), 41 of 47 infants (87%) were white and 6 of 47 (13%) were black.1
Sex
Males and females are equally affected.
Age
Severity of the leaflet displacement and the degree of associated right ventricular outflow tract obstruction determine age at presentation. In the BWIS, 81% of the patients were diagnosed during their first week of life, 6% were diagnosed when aged 1-4 weeks, 11% were diagnosed when aged 5-25 weeks, and 2% were diagnosed when older than 25 weeks. In contrast to the BWIS, a study from India by Jaiswal et al showed age at presentation ranging from 3 months to 51 years, with a mean of 19.5 years.2
Clinical
History
For the purpose of clinical presentation of Ebstein anomaly, the patients are separated into the age groups used in a study by Celermajer et al.3
- Fetus
- Abnormal fetal scan - 86%
- Arrhythmia - 5%
- Neonate (aged 0-1 mo)
- Cyanosis - 74%
- Heart failure with poor feeding and failure to thrive - 10%
- Incidental heart murmur - 9%
- Infant (aged 2 mo to 2 y)
- Cyanosis - 35%
- Heart failure with poor feeding and failure to thrive - 43%
- Incidental heart murmur - 13%
- Child (aged 3-10 y)
- Cyanosis - 14%
- Heart failure with poor growth and decreased exercise tolerance - 8%
- Arrhythmia with complaints of palpitations - 12%
- Incidental heart murmur - 66%
- Adolescent (aged 11-18 y)
- Cyanosis - 13%
- Heart failure with dyspnea on exertion and decreased exercise tolerance - 13%
- Arrhythmia with complaints of palpitations - 40%
- Incidental heart murmur, 33%
- Adult (aged >18 y)
- Cyanosis - 4%
- Heart failure with dyspnea on exertion and decreased exercise tolerance - 26%
- Arrhythmia with complaints of palpitations - 43%
- Incidental heart murmur - 13%
- Chest pain - 20%
- Syncope - 6%
Physical
The physical examination findings vary based on the age of the patient and the degree of tricuspid valve regurgitation and right ventricular outflow tract obstruction.
- The classic cardiac examination is marked by a gallop or quadruple rhythm caused by widely split first and second heart sounds, as well as a third heart sound or fourth heart sound.
- Tricuspid regurgitation causes a holosystolic or regurgitant systolic murmur at the left lower sternal border.
- A diastolic murmur of relative tricuspid stenosis and the systolic ejection murmur associated with right ventricular outflow tract obstruction may also be heard.
- Congestive heart failure, if present, may cause passive liver congestion, and the liver edge may be easily palpable below the right costal margin.
- Clubbing and elevated jugular venous distension may be present in older patients.
Causes
Most cases are sporadic, but familial cases have occurred. Maternal lithium and benzodiazepine exposures have been implicated as a cause of this disease.
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| References |
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References
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Jaiswal PK, Balakrishnan KG, Saha A, et al. Clinical profile and natural history of Ebstein's anomaly of tricuspid valve. Int J Cardiol. Sep 1994;46(2):113-9. [Medline].
Celermajer DS, Bull C, Till JA, et al. Ebstein's anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol. Jan 1994;23(1):170-6. [Medline].
Reich JD, Auld D, Hulse E, Sullivan K, Campbell R. The Pediatric Radiofrequency Ablation Registry's experience with Ebstein's anomaly. Pediatric Electrophysiology Society. J Cardiovasc Electrophysiol. Dec 1998;9(12):1370-7. [Medline].
Brown ML, Dearani JA, Danielson GK, et al. The outcomes of operations for 539 patients with Ebstein anomaly. J Thorac Cardiovasc Surg. May 2008;135(5):1120-36, 1136.e1-7. [Medline].
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Chauvaud SM, Hernigou AC, Mousseaux ER, Sidi D, Hebert JL. Ventricular volumes in Ebstein's anomaly: x-ray multislice computed tomography before and after repair. Ann Thorac Surg. Apr 2006;81(4):1443-9. [Medline].
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Kiziltan HT, Theodoro DA, Warnes CA, et al. Late results of bioprosthetic tricuspid valve replacement in Ebstein's anomaly. Ann Thorac Surg. Nov 1998;66(5):1539-45. [Medline].
MacLellan-Tobert SG, Driscoll DJ, Mottram CD, et al. Exercise tolerance in patients with Ebstein's anomaly. J Am Coll Cardiol. Jun 1997;29(7):1615-22. [Medline].
Pavlova M, Fouron JC, Drblik SP, et al. Factors affecting the prognosis of Ebstein's anomaly during fetal life. Am Heart J. Jun 1998;135(6 Pt 1):1081-5. [Medline].
Schreiber C, Cook A, Ho SY, Augustin N, Anderson RH. Morphologic spectrum of Ebstein's malformation: revisitation relative to surgical repair. J Thorac Cardiovasc Surg. Jan 1999;117(1):148-55. [Medline].
Snider AR, Serwer GA, Ritter SB. Abnormalities of ventricular flow. In: Echocardiography in Pediatric Heart Disease. 2nd ed. Mosby-Year Book, Incorporated; 1997:389-94.
Trojnarska O, Szyszka A, Gwizdala A, et al. Adults with Ebstein's anomaly--Cardiopulmonary exercise testing and BNP levels exercise capacity and BNP in adults with Ebstein's anomaly. Int J Cardiol. Jul 28 2006;111(1):92-7. [Medline].
van Son JA, Falk V, Black MD, Haas GS, Mohr FW. Conversion of complex neonatal Ebstein's anomaly into functional tricuspid or pulmonary atresia. Eur J Cardiothorac Surg. Mar 1998;13(3):280-4; discussion 284-5. [Medline].
Yetman AT, Freedom RM, McCrindle BW. Outcome in cyanotic neonates with Ebstein's anomaly. Am J Cardiol. Mar 15 1998;81(6):749-54. [Medline].
Yun TJ, Lee SH, Ko JK. Neonatal stenotic Ebstein's anomaly: a novel technique of right ventricular exclusion. J Thorac Cardiovasc Surg. Feb 2006;131(2):469-71. [Medline].
Further Reading
Keywords
Ebstein anomaly, Ebstein's anomaly, Ebstein anomaly of tricuspid valve, Ebstein's anomaly of tricuspid valve, Ebstein disease, Ebstein's disease, treatment, medication, diagnosis, congenital heart defect, heart, tricuspid valve, atrial septal defect, ASD, patent foramen ovale, PFO, pulmonary stenosis, pulmonary atresia, congestive heart failure, supraventricular tachycardia, SVT, Wolff-Parkinson-White syndrome, WPW syndrome, arrhythmia, cyanosis, heart murmur, tricuspid valve regurgitation, right ventricular outflow tract obstruction
