eMedicine Specialties > Cardiology > Congenital Heart Disease in the Adult
Ebstein Anomaly
Updated: Feb 6, 2008
Introduction
Background
Ebstein anomaly is a congenital malformation of the heart that is characterized by apical displacement of the septal and posterior tricuspid valve leaflets, leading to atrialization of the right ventricle with a variable degree of malformation and displacement of the anterior leaflet.
Wilhelm Ebstein first described a patient with cardiac defects typical of Ebstein anomaly in 1866. In 1927, Alfred Arnstein suggested the name Ebstein's anomaly for these defects. In 1937, Yates and Shapiro described the first case of the anomaly with associated radiographic and electrocardiographic data.
Pathophysiology
The embryological development of tricuspid valve leaflets and chordae involves undermining of the right ventricular free wall. This process continues to the level of the atrioventricular (AV) junction. In Ebstein anomaly, this process of undermining is incomplete and falls short of reaching the level of the AV junction. In addition, the apical portions of the valve tissue, which normally undergo resorption, fail to resorb completely. This results in distortion and displacement of the tricuspid valve leaflets, and a part of the right ventricle becomes atrialized. Ebstein anomaly is commonly associated with other congenital, structural, or conduction system disease, including intracardiac shunts, valvular lesions, and accessory conduction pathways (eg, Wolff-Parkinson-White [WPW] syndrome).
The hemodynamic consequences of Ebstein anomaly result from displaced and malformed tricuspid leaflets and atrialization of the right ventricle. The leaflet anomaly leads to tricuspid regurgitation. The severity of regurgitation depends on the extent of leaflet displacement, ranging from mild regurgitation with minimally displaced tricuspid leaflets to severe regurgitation with extreme displacement.
The atrialized portion of the right ventricle, although anatomically part of the right atrium, contracts and relaxes with the right ventricle. This discordant contraction leads to stagnation of blood in the right atrium. During ventricular systole, the atrialized part of the right ventricle contracts with the rest of the right ventricle, which causes a backward flow of blood into the right atrium, accentuating the effects of tricuspid regurgitation.
Frequency
United States
True prevalence is unknown because mild forms frequently are undiagnosed. Currently, with wide application of echocardiography, more cases are being diagnosed. Ebstein anomaly probably accounts for 0.5% of cases of congenital heart diseases.
Mortality/Morbidity
The natural course of the disease varies according to the severity of tricuspid valve displacement.
- Patients presenting in infancy generally have severe disease and unfavorable prognosis.
- Mean age of presentation is in the middle teenage years. According to older observational data, approximately 5% of these patients survive beyond age 50 years. The oldest recorded patient lived to age 85 years.
Race
Ebstein anomaly is more common in children of white females.
Sex
No specific sex predominance exists.
Age
Ebstein anomaly can present at various stages of life.
- Fetal life: Ebstein anomaly is usually diagnosed incidentally by echocardiography.
- Neonatal life and infancy: Ebstein anomaly presents with cyanosis and/or severe heart failure; typically, symptoms present in infancy improve as pulmonary vascular resistance decreases.
- Adult life: Ebstein anomaly presents with fatigue, exertional dyspnea, cyanosis, tricuspid regurgitation and/or right heart failure, and palpitations; arrhythmias are common.
Clinical
History
Patients can have a variety of symptoms related to the anatomical abnormalities of Ebstein anomaly and their hemodynamic effects or associated structural and conduction system disease.
- Cyanosis
- Fairly common and frequently due to right-to-left shunt at the atrial level and/or severe heart failure
- Transient in neonatal life with recurrence in adult life
- May appear for the first time in adult life
- Transient appearance/worsening of cyanosis in adult life due to paroxysmal arrhythmias
- Once apparent, progressively worsens
- Fatigue and dyspnea: These are due to poor cardiac output secondary to right ventricular failure and decreased left ventricular ejection fraction.
- Palpitations and sudden cardiac death
- Due to paroxysmal supraventricular tachycardia (SVT) in as many as one third of patients
- Fatal ventricular arrhythmias, which may be due to the presence of accessory pathways
- Symptoms of right heart failure: These include ankle edema and ascites.
- Other less common presenting symptoms
- Brain abscess due to right-to-left shunt
- Bacterial endocarditis
- Paradoxical embolism, stroke, and transient ischemic attacks
Physical
Physical findings, like the symptoms, span a spectrum from subtle to dramatic.
- Cyanosis and clubbing - Varying degrees of cyanosis at various times in life and transient worsening with arrhythmias
- Precordial asymmetry
- Usually left parasternal prominence and occasionally right parasternal prominence
- Absent left parasternal (ie, right ventricular) lift an important negative sign
- Jugular venous pulse
- May be normal owing to a large, thin-walled right atrium, which can absorb the volume and pressure transmitted from the right ventricle through an incompetent tricuspid valve
- Large a and v waves late in the course of the disease, with development of right heart failure
- Arterial pulses
- Usually normal
- Diminished volume late in the course of the disease due to severe right heart failure and decreased left ventricular stroke volume
- Heart sounds
- First heart sound is widely split with loud tricuspid component secondary to delayed closure of the elongated anterior tricuspid leaflet, which has an increased excursion. Mitral component may be soft or absent in the presence of prolonged PR interval.
- Second heart sound usually is normal but may be widely split when the pulmonary component is delayed due to right bundle-branch block (RBBB).
- Additional heart sounds and murmurs
- Third and fourth heart sounds are commonly present, even in the absence of congestive heart failure (CHF). Summation of third and fourth heart sounds, especially with prolonged PR interval, can mimic an early diastolic murmur.
- The holosystolic murmur of tricuspid regurgitation is heard maximally at the lower left parasternal area and sometimes at the apex owing to the displaced location of the tricuspid valve; murmur intensity and duration increase during inspiration.
Causes
- Ebstein anomaly is a congenital disease of often uncertain cause.
- Environmental factors implicated in etiology include the following:
- Maternal ingestion of lithium in first trimester of pregnancy
- Maternal benzodiazepine use
- Maternal exposure to varnishing substances
- Maternal history of previous fetal loss
- Risk is higher in whites than in other races.
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| Follow-up: Ebstein Anomaly |
| References |
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References
Ammash NM, Warnes CA, Connolly HM, Danielson GK, Seward JB. Mimics of Ebstein's anomaly. Am Heart J. Sep 1997;134(3):508-13. [Medline].
Armengol Rofes AJ, Serrano Durán M, Albert Brotons DC, Sánchez López C, Casaldáliga Ferrer J, Girona Comas JM. [Ebstein's anomaly of the tricuspid valve. Apropos 35 cases]. An Esp Pediatr. Feb 1996;44(2):139-44. [Medline].
Attie F, Rosas M, Rijlaarsdam M, et al. The adult patient with Ebstein anomaly. Outcome in 72 unoperated patients. Medicine (Baltimore). Jan 2000;79(1):27-36. [Medline].
Attie F, Casanova JM, Zabal C, Buendía A, Miranda I, Rijlaarsdam M. Ebstein's anomaly. Clinical profile in 174 patients. Arch Inst Cardiol Mex. Jan-Feb 1999;69(1):17-25. [Medline].
Augustin N, Schreiber C, Wottke M, Meisner H. [Ebstein's anomaly: when should a patient have operative treatment?]. Herz. Aug 1998;23(5):287-92. [Medline].
Augustin N, Schreiber C, Lunge R. Valve preserving treatment of Ebstein's anomaly: perioperative and follow-up results. Thorac Cardiovasc Surg. Oct 2000;48(5):316. [Medline].
Brickner ME, Hillis LD, Lange RA. Congenital heart disease in adults. Second of two parts. N Engl J Med. Feb 3 2000;342(5):334-42. [Medline].
Celermajer DS, Bull C, Till JA, Cullen S, Vassillikos VP, Sullivan ID. Ebstein's anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol. Jan 1994;23(1):170-6. [Medline].
Chauvaud S. Ebstein's malformation. surgical treatment and results. Thorac Cardiovasc Surg. Aug 2000;48(4):220-3. [Medline].
Correa-Villaseñor A, Ferencz C, Neill CA, Wilson PD, Boughman JA. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology. Aug 1994;50(2):137-47. [Medline].
Friedman WF. Congenital heart disease in infancy and childhood. In: Braunwald E, ed. Heart Disease: A Text Book of Cardiovascular Medicine. 5th ed. Philadelphia, Pa: WB Saunders Company; 1997:934-5.
Gerlis LM, Ho SY, Sweeney AE. Mitral valve anomalies associated with Ebstein's malformation of the tricuspid valve. Am J Cardiovasc Pathol. 1993;4(4):294-301. [Medline].
Hong YM, Moller JH. Ebstein's anomaly: a long-term study of survival. Am Heart J. May 1993;125(5 Pt 1):1419-24. [Medline].
Kaneko Y, Okabe H, Nagata N, Yasui S, Yamada S, Kobayashi J. Repair of septal and posterior tricuspid leaflets in Ebstein's anomaly. J Card Surg. Jul 1998;13(4):229-35. [Medline].
Khositseth A, Khowsathit P. Factors affecting mortality in Ebstein's anomaly of the tricuspid valve. J Med Assoc Thai. Nov 1999;82 Suppl 1:S10-5. [Medline].
MacLellan-Tobert SG, Driscoll DJ, Mottram CD, Mahoney DW, Wollan PC, Danielson GK. Exercise tolerance in patients with Ebstein's anomaly. J Am Coll Cardiol. Jun 1997;29(7):1615-22. [Medline].
Perloff JK. Ebstein's anomaly of the tricuspid valve. In: Perloff JK, ed. The Clinical Recognition of Congenital Heart Disease. 3rd ed. Philadelphia, Pa: WB Saunders Company; 1991:235-251.
Ronan Jr JA. Congenital heart disease. In: Chizner MA, ed. Classic Teachings in Clinical Cardiology. 2. First ed. Cedar Grove, NJ: Laennec; 1996:1242-44.
Shaughnessy R. Ebstein's anomaly. In: Crawford MH, DiMarco JP, eds. Cardiology. London: Mosby International; 2001:6.13.1-6.
Weyman AE. Right ventricular inflow tract (congenital anomalies associated with tricuspid regurgitation). In: Weyman AE, ed. Principles and Practice of Echocardiography. 1994. 3rd ed. Philadelphia, Pa: Lea & Febiger:840-2.
Further Reading
Keywords
Ebstein's anomaly, Ebstein disease, Wolff-Parkinson-White syndrome, WPW syndrome, congenital heart disease, tricuspid regurgitation, tricuspid valve displacement, lithium ingestion during pregnancy, maternal benzodiazepine use, maternal exposure to varnishing substances, right heart failure, supraventricular tachycardia, SVT, accessory conduction pathways, multiple pathways, bacterial endocarditis, subacute bacterial endocarditis, prophylaxis, SBE prophylaxis, Ebstein abnormality, bacterial endocarditis, sudden cardiac death
