AKT · Child health/Congenital heartlow yield

Ebstein anomaly

Apical displacement of the tricuspid valve → 'atrialised' RV (lithium in pregnancy)

Overview

Downward (apical) displacement of the tricuspid valve leaflets into the right ventricle, 'atrialising' part of the RV and causing tricuspid regurgitation, a small functional RV and (with an ASD) right-to-left shunting/cyanosis. Classically associated with maternal LITHIUM exposure in pregnancy. Wide spectrum from neonatal cyanosis/heart failure to incidental adult presentation; associated with WPW (accessory pathway).

Recognise

Variable: severe neonatal cyanosis + heart failure, or mild/incidental in adults; tricuspid regurgitation murmur
Right-to-left shunt (cyanosis) if an ASD; cardiomegaly ('wall-to-wall heart' on CXR in severe cases); WPW/arrhythmia
Association: maternal LITHIUM use in pregnancy

Red flags

Severe neonatal Ebstein (cyanosis + heart failure) → intensive care ± prostaglandin
Arrhythmia (WPW/SVT)

Differentials & how to tell them apart

Other cyanotic CHDecho shows the displaced tricuspid valve / atrialised RV

Tricuspid regurgitation of other causethe apical displacement is specific to Ebstein

Investigations

Echocardiography (apically-displaced tricuspid valve, atrialised RV, regurgitation, shunt); ECG (right atrial enlargement, WPW); CXR (cardiomegaly).

Management

Supportive (severe neonate ± prostaglandin); arrhythmia/valve management

1Echocardiography is diagnostic. Severe neonatal disease needs intensive support (± prostaglandin); manage arrhythmias and tricuspid regurgitation.Gate: Ask about maternal LITHIUM exposure in pregnancy; look for WPW/arrhythmia (accessory pathways are associated) and consider ablation
2Tricuspid valve repair/replacement for severe disease; arrhythmia ablation; lifelong follow-up.

Supportive ± prostaglandin (severe neonatal) — manage cyanosis/heart failure

Arrhythmia management/ablation; surgical repair — WPW ablation; tricuspid valve repair for severe disease

Key points

Apically-displaced tricuspid valve + atrialised RV + tricuspid regurgitation = Ebstein; classic link to maternal LITHIUM and to WPW. Wide severity spectrum.

Monitor & prognosis

RV function, arrhythmia, cyanosis.

Variable — from severe neonatal to incidental adult.

Source: RCPCH; paediatric cardiology