Epstein’s Anomaly

Answer

Diagnosis: Epstein’s Anomaly

Epstein’s Anomaly is a rare form of congenital heart disease manifesting as a malformation of the tricuspid valve and right heart. It accounts for less than 1% of all congenital heart disease.  The anomaly can vary from mild to severe. Mild forms of the anomaly may not be symptomatic, and not present until later in adulthood.  Severe forms of the anomaly typically present in the neonatal period with cyanosis and heart failure.

In Epstein’s Anomaly the posterior and septal leaflets of the tricuspid valve are displaced apically into the right ventricle, and tethered to the atrial wall (failure of delamination during embryonic development). There are various degrees of apical displacement, thickening, fenestration, and tethering of the anterior leaflet of the valve.  The apical displacement of the valve typically follows the order: septal>posterior>anterior.  This produces “atrialization” of the right ventricle, leading to a small right ventricle and a grossly enlarged right atrium, with tricuspid regurgitation.

Ebstein’s Anomaly is associated with PFO, ASD, and VSD (shunt lesions) in 80-94% of patients. Additional associations include bicuspid or atretic aortic valve, pulmonary valve stenosis and atresia, pulmonary artery hypoplasia, subaortic stenosis, coarctation, and mitral valve prolapse.

There is also an association with supraventricular tachycardia (WPW syndrome).

 

References:

1.      en.wikipedia.org/wiki/Ebstein%27s_anomaly

2.      http://www.mayoclinic.org/diseases-conditions/ebsteins-anomaly/home/ovc-20199183

3.      www.cincinnatichildrens.org/health/e/ebstein

4.      http://circ.ahajournals.org/content/115/2/277

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