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Clinical manifestations and diagnosis of Ebstein anomaly

Authors
Heidi M Connolly, MD, FASE
Muhammad Yasir Qureshi, MBBS, FASE
Section Editors
Matthias Greutmann, MD, FESC
David R Fulton, MD
Deputy Editor
Susan B Yeon, MD, JD, FACC

INTRODUCTION

Ebstein anomaly is a congenital malformation that is characterized primarily by abnormalities of the tricuspid valve and right ventricle (figure 1). The clinical presentation of Ebstein anomaly varies widely, ranging from the critically ill neonate to the asymptomatic adult, depending upon the degree of anatomic abnormality. The clinical manifestations and diagnosis of Ebstein anomaly are discussed here.

The management and prognosis of Ebstein anomaly are discussed separately. (See "Management and prognosis of Ebstein anomaly".)

EPIDEMIOLOGY

The estimated risk of Ebstein anomaly in the general population is 1 in 20,000 live births with no predilection for either gender [1-3]. The genetic predisposition for Ebstein anomaly is considered heterogeneous [4-7]. The risk of Ebstein anomaly in infant of mothers taking lithium during early pregnancy is discussed separately. (See "Teratogenicity, pregnancy complications, and postnatal risks of antipsychotics, benzodiazepines, lithium, and electroconvulsive therapy", section on 'Lithium'.)

MORPHOLOGY

Tricuspid valve — The morphology of the tricuspid valve in Ebstein anomaly, and consequently the clinical presentation, is highly variable. The tricuspid valve leaflets demonstrate variable degrees of failed delamination (separation of the valve tissue from the myocardium) with fibrous attachments to the right ventricular endocardium (image 2B).

The displacement of annular attachments of septal and posterior (inferior) leaflets into the right ventricle toward the apex and right ventricular outflow tract is the hallmark finding of Ebstein anomaly.

                        

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Literature review current through: Jul 2017. | This topic last updated: May 18, 2017.
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