Ebstein anomaly

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Classification according to ICD-10
Q22.5 Ebstein anomaly
ICD-10 online (WHO version 2019)

The Ebstein anomaly (also Ebstein's disease , after Wilhelm Ebstein ) is a very rare congenital malformation of the heart . The septal and often also the posterior leaflet of the tricuspid valve (between the right atrium and right ventricle = heart chamber) are displaced towards the apex and the valve leaflets are misshapen (hypoplastic and thus causing tricuspid valve insufficiency). They show great differences in structure. The flap ring is not shifted. Due to the low position of the valves, the heart chamber, which serves the pulmonary circulation, is reduced in size and the atrium is enlarged. Usually there is also an open connection at the atrial level in the form of an atrial septal defect (ASD) or an open foramen ovale .


The valve malformation leads to incomplete valve closure (tricuspid regurgitation) with blood backflow into the right atrium. On the one hand, this blood is absent from the pulmonary circulation and, on the other hand, it loads the volume of both the atrium and the ventricle. The result is an enlargement of the right heart and a reduction in heart function ( right heart failure ). If ASD is also present, low-oxygen blood flows into the left atrium and leads to cyanosis .

Cardiac arrhythmias can occur as a complication, but are sometimes also congenital ( Wolff-Parkinson-White syndrome ).


The clinical signs of right heart failure depend on the severity of the valve malformation, the function of the right ventricle, the size of the ASD and the frequent cardiac arrhythmias. The children are short of breath, have poor drinking and fail to thrive. It can edema , a swelling of the liver and ascites occur.


For diagnosis, echocardiography and an electrocardiogram (EKG) are used to determine the right heart load. A cardiac catheter examination is often carried out for further diagnosis .


The exact causes of the abnormality are still unclear, for example it has long been assumed that taking lithium supplements during pregnancy means an increased risk to the fetus. However, more recent analyzes could no longer clearly confirm this connection.


Drug therapy is the focus of the treatment. As the symptoms progress, the tricuspid valve is corrected using the heart-lung machine so that a functional tricuspid valve is created. In some cases, a patient may need to have an artificial heart valve or a homograft (human donor valve ) inserted. The time and extent of the operation is determined individually for each patient; in very rare cases, an operation is necessary in the newborn.

Careful endocarditis prophylaxis must be ensured throughout life.


Individual evidence

  1. a b Wyman Lai, Luc Mertens, Meryl Cohen, Tal Geva Echocardiography in Pediatric and Congenital Heart Disease: From Fetus to Adult (2012) ISBN 1-118-33725-5 .