Ebstein's anomaly

Last edited 01/2023 and last reviewed 10/2023

Ebstein's anomaly is a rare congenital cardiac disease initially described by Wilhelm Ebstein in 1866

In Ebstein's anomaly the tricuspid valve is downwardly displaced into the right ventricle. The posterior and septal leaflets are plastered down into the right ventricular wall. Above the attachment of the valve the ventricle becomes dilated and thin walled - atrialized. Often there is also an atrial septal defect.

Ebstein's anomaly occurs approximately once in 20,000 live births (1) and only 5% of patients survive beyond the fifth decade (1,2).

Echocardiography is the method of choice to diagnose Ebstein's anomaly on its own or in association with other heart defects.

Complications such as right ventricular failure, infective endocarditis, and paradoxical embolism can occur.

Ebstein's anomaly diagnosed in adult life is a benign and stable disease, particularly if the patient is asymptomatic (3). These cases may represent a familial form of Ebstein's anomaly (3).

Tricuspid valve repair, if feasible, is preferred over Tricuspid valve replacement (with closure of an associated interatrial communication) (4)

Reference:

• 1) CyrusmC et al. Downs syndrome with tandem 21;21 rearrangement and Ebstein's anomaly- a case report. Int J Cardiol Jan 31 2007;115(1):e58-60
• 2) Hennebry TA et al. Successful interventional treatment of an octogenarian presenting with syncope and Ebstein's anomaly of the tricuspid valve. J Invasive Cardiol Jan 2002;14(1):44-7.
• 3) Uyan C et al. Ebstein's anomaly in siblings: an original observation.Int J Cardiovasc Imaging. 2002 Dec;18(6):435-8.
• 4) Baumgartner M et al. ESC Scientific Document Group, 2020 ESC Guidelines for the management of adult congenital heart disease: The Task Force for the management of adult congenital heart disease of the European Society of Cardiology (ESC). Endorsed by: Association for European Paediatric and Congenital Cardiology (AEPC), International Society for Adult Congenital Heart Disease (ISACHD), European Heart Journal, Volume 42, Issue 6, 7 February 2021, Pages 563-645, https://doi.org/10.1093/eurheartj/ehaa554