The anomaly accounts for only ~0.5% of congenital cardiac defects 6-7, although it is the most common cause of congenital tricuspid regurgitation. There is no recognised gender predilection, and almost all cases seem to be sporadic, although an association with maternal lithium carbonate injection has been postulated 6. A few familial cases have been reported 6-7.
The presentation is often antenatal, with the development of hydrops fetalis and fetal tachyarrhythmias 6. In less severe cases, it may present at birth. Depending on the degree of atrial right-to-left shunting, the infant may or may not be cyanotic.
The main abnormality is an abnormal tricuspid valve (particularly septal and posterior leaflets), which is displaced apically into the right ventricle, resulting in atrialisation of the parts of the ventricle above the valve. This results from the tricuspid valve leaflets inadequately separating from each other, or from the chorda tendinae from the inferior portion of the ventricle, during embryologic development. There can be concurrent tricuspid regurgitation with or without stenosis.
- chromosomal anomalies
- multiple other congenital heart lesions (ASD is quite common)
- conduction abnormalities leading to arrhythmia (common), e.g. Wolf-Parkinson-White syndrome
- maternal lithium carbonate ingestion: possible
Findings on chest radiographs largely depend on the severity of the abnormality and the degree to which the tricuspid valve is displaced downwards.
There is often severe right-sided cardiomegaly due to an elongated and enlarged right atrium which may result in an elevated apex. Classically, the heart is described as having a "box shape" on a frontal chest radiograph.
Typically shows right heart enlargement. Colour Doppler may show tricuspid regurgitation, an abnormally downward displaced tricuspid valve, and a small right ventricle. May also show evidence of concomitant tricuspid valve regurgitation.
Allows direct visualisation of anatomical detail. Cine MRI can be used akin to echocardiography for functional assessment.
- apical displacement of the septal and posterior leaflets of the tricuspid valve
- as a rule of thumb: if the tricuspid septal attachment lies more than 1.5 cm "beneath" (i.e. towards the apex) than mitral septal attachment, this can be considered Ebstein anomaly (in adults, the measurement is 2 cm)
- some prefer a value indexed to body surface area
- a septal displacement below the mitral valve of >8 mm/m2 (or >0.8 mm/cm2) is the cutoff value 9 for Ebstein anomaly
- "atrialisation" of the right ventricle
- tricuspid regurgitation
In your report, mention the position of tricuspid valve leaflets, assess the degree of regurgitation, and measure right ventricular volume and function. Be sure that you quote "true" RV volume (volume of the ventricular side of the tricuspid valve).
Treatment and prognosis
As the anomaly is of variable severity, so is the prognosis. Severity is related to the amount of RVOT dysfunction and tricuspid regurgitation. Sudden death from arrhythmia may occur.
Symptomatic cases that present in utero have a poorer prognosis 6-7. Even in initially asymptomatic cases, life expectancy is usually limited to a few decades 7.
Some surgical procedures have been performed with mixed results. Arrhythmias are treated with medications or pacemaker placement.
History and etymology
It is named after Wilhelm Ebstein, a German physician (1836-1912) 4.
The differential on a chest radiograph is extremely broad, particularly since the findings in Ebstein anomaly are so variable. With echocardiography and MRI, the diagnosis is usually self-evident, once the apically displaced tricuspid valve in identified.
Differential on a chest radiograph includes:
- other congenital heart anomalies
- large pericardial effusion
- selective fatty infiltration of the right ventricular myocardium 3
- prominent thymus
Congenital heart disease
There is more than one way to present the variety of congenital heart diseases. Whichever way they are categorised, it is helpful to have a working understanding of normal and fetal circulation, as well as an understanding of the segmental approach to imaging in congenital heart disease.
congenital heart disease
- normal relationship between chambers and valves
- atrioventricular valves
- outflow tract
- great vessels
- venous inflow
- anomalous valves
- abnormal relationship of chambers and valves
- atrioventricular abnormality
- great vessel connection abnormality
- conotruncal cardiac anomalies
- pentalogy of Cantrell
- Shone syndrome
- congenital heart disease - chest x-ray approach
surgical repairs (mnemonic)
- arterial switch procedure
- Blalock-Taussig shunt
- double switch procedure
- Fontan procedure
- Glenn procedure
- Mustard repair
- Norwood procedure
- Pott shunt
- pulmonary artery banding
- Rastelli procedure
- Sano shunt
- Senning repair
- total repair of tetralogy of Fallot (TOF)
- unifocalisation procedure
- Waterston shunt
- 1. Choi YH, Park JH, Choe YH et-al. MR imaging of Ebstein's anomaly of the tricuspid valve. AJR Am J Roentgenol. 1994;163 (3): 539-43. AJR Am J Roentgenol (abstract) - Pubmed citation
- 2. Ferguson EC, Krishnamurthy R, Oldham SA. Classic imaging signs of congenital cardiovascular abnormalities. Radiographics. 27 (5): 1323-34. doi:10.1148/rg.275065148 - Pubmed citation
- 3. Cook AL, Hurwitz LM, Valente AM et-al. Right heart dilatation in adults: congenital causes. AJR Am J Roentgenol. 2007;189 (3): 592-601. doi:10.2214/AJR.07.2420 - Pubmed citation
- 4. Wilhelm Ebstein from whonamedit.com, the dictionary of medical eponyms. Wilhelm Ebstein
- 5. Brant WE, Helms CA. Fundamentals of diagnostic radiology. Lippincott Williams & Wilkins. (2007) ISBN:0781761352. Read it at Google Books - Find it at Amazon
- 6. Drose JA. Fetal Echocardiography. W B Saunders Co. (2009) ISBN:1416056696. Read it at Google Books - Find it at Amazon
- 7. Moss AJ, Allen HD, Driscoll DJ et-al. Moss and Adams' heart disease in infants, children, and adolescents, including the fetus and young adult. Lippincott Williams & Wilkins. (2007) ISBN:0781786843. Read it at Google Books - Find it at Amazon
- 8. Entezami M, Albig M, Knoll U et-al. Ultrasound Diagnosis of Fetal Anomalies. Thieme. (2003) ISBN:1588902129. Read it at Google Books - Find it at Amazon
- 9. Attenhofer CHJ. Connolly HM. Dearani JA. Edwards WD. Danielson GK. Congenital Heart Disease for the Adult Cardiologist: Ebstein’s Anomaly. Circulation. 2007; 115: 277-285. Congenital Heart Disease for the Adult Cardiologist: Ebstein’s Anomaly