Ebstein's anomaly of the tricuspid valve
| Ebstein's anomaly of the tricuspid valve | |
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|---|---|
| Chest X-ray of a patient with Ebstein's anomaly Image courtesy of RadsWiki | |
| ICD-10 | Q22.5 |
| ICD-9 | 746.2 |
| OMIM | 224700 |
| DiseasesDB | 4039 |
| eMedicine | med/627 |
| MeSH | D004437 |
Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1] and Claudia P. Hochberg, M.D. [2]
Associate Editor-In-Chief: Cafer Zorkun, M.D., Ph.D. [3]
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Overview
Ebstein's anomaly is a congenital heart defect in which the opening of the tricuspid valve is displaced towards the apex of the right ventricle of the heart (congenital apical displacement of the tricuspid valve that typically causes significant tricuspid regurgitation).
The annulus of the valve is in normal position. The valve leaflets however, are to a varying degree attached to the walls and septum of the right ventricle. There is subsequent atrialization of a portion of the morphologic right ventricle (which is then contiguous with the right atrium). This causes the right atrium to be large and the anatomic right ventricle to be small in size. 50% of cases involve an atrial shunt (either a PFO or an ASD).
Etymology
Ebstein's anomaly was named after Wilhelm Ebstein.[1][2]
Diagnoses Ebstein's Anomaly of the Tricuspid Valve should be Distinguished from
- Accessory pathway-mediated WPW syndrome and SVT
- Atrial septal defect (ASD)
- Cyanotic congenital heart diseases
- Isolated, severe tricuspid regurgitation
- L-transposition of the great vessels
- Severe right heart failure
Associated Abnormalities
While Ebstein's anomaly is defined as the congenital displacement of the tricuspid valve towards the apex of the right ventricle, it is often associated with other abnormalities.
Anatomy
Typically, there are anatomic abnormalities of the tricuspid valve, with enlargement of the anterosuperior leaflet of the valve which is often adherent to the right ventricular free wall.
About 50% of individuals with Ebstein's anomaly have an associated shunt between the right and left atriums, either an atrial septal defect ASD or a patent foramen ovale PFO.
- The tricuspid valve leaflets are displaced toward the RV apex.
- The RV cavity is dilated and the free wall is thin.
- May be associated with LV dysfunction and mitral valve prolapse (MVP).
- It has also been associated with pulmonic stenosis (PS), VSD, pulmonary hypertension, bicuspid aortic valve and right sided aortic arch.
-It is commonly associated with congenitally corrected transposition of the great vessels and occasionally with tetralogy of Fallot.
- Is often associated with one or more accessory conduction pathways in 25%, and WPW in 13%. Usually this is a right sided accessory pathway.
- The presence of an ASD permits right-to-left shunting and cyanosis. The degree of cyanosis is related to the degree of tricuspid regurgitation (TR), tricuspid stenosis (TS) and the compliance of the RV.
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Graphical represntation of Ebstein's Anomaly from the Mayo Clinic website (note there is also an ASD on this diagram)
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Ebstein Anomaly
Epidemiology and Demographics
- Is a rare congenital heart disease.
- About 1:1,000 patients with congenital heart disease, or 1:210,000 live births.
- Males = females.
- Higher incidence in infants whose mothers are treated with Lithium Carbonate during pregnancy
Genetics
- Multifactorial inheritance, risk if a sibling has the disease is 1%.
Diagnosis
History | Physical Examination | Laboratory Findings | CT and MRI
Treatment
Prognosis
References
- ↑ Template:WhoNamedIt
- ↑ W. Ebstein. Über einen sehr seltenen Fall von Insufficienz der Valvula tricuspidalis, bedingt durch eine angeborene hochgradige Missbildung derselben. Archiv für Anatomie, Physiologie und wissenschaftliche Medicin, Leipzig, 1866, 238-254.
Additional Resources
- Emma C. Ferguson, Rajesh Krishnamurthy, and Sandra A. A. Oldham. Classic Imaging Signs of Congenital Cardiovascular Abnormalities. RadioGraphics 2007 27: 1323-1334.
- Joris P. A. Beerepoot, and Pamela K. Woodard. Case 71: Ebstein Anomaly. Radiology 2004 231: 747-751.