Clinical manifestations and diagnosis of Ebstein anomaly
- Heidi M Connolly, MD, FASE
Heidi M Connolly, MD, FASE
- Section Editor — Congenital Heart Disease
- Professor of Medicine
- Mayo Medical School
- Muhammad Yasir Qureshi, MBBS, FASE
Muhammad Yasir Qureshi, MBBS, FASE
- Senior Associate Consultant, Pediatric Cardiology
- Assistant Professor of Pediatrics
- Mayo Clinic
- Section Editors
- Matthias Greutmann, MD, FESC
Matthias Greutmann, MD, FESC
- Head, Congenital Heart Disease Unit
- University Heart Center
- David R Fulton, MD
David R Fulton, MD
- Section Editor — Pediatric Cardiology
- Associate Professor of Pediatrics
- Harvard Medical School
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, diagnosis, and management of Ebstein anomaly are discussed here.
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]. Ebstein was previously reported to occur with increased frequency in infants of mothers who took lithium during early pregnancy. However, later reports have called this association into question. The genetic predisposition for Ebstein anomaly is considered heterogeneous [4-7]. (See "Teratogenicity, pregnancy complications, and postnatal risks of antipsychotics, benzodiazepines, lithium, and electroconvulsive therapy", section on 'Lithium'.)
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.
●The posterior (inferior) and septal tricuspid valve leaflets are generally most severely affected, related to failure of delamination from the myocardium. The tricuspid valve functional orifice is generally displaced anteriorly and downward from the atrioventricular junction toward the right ventricular apex, and toward the right ventricular outflow tract along the direction of blood flow (rotation of the tricuspid annular plane along the inner curvature of the right ventricle).
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- Tricuspid valve
- Right ventricle
- Associated cardiovascular defects
- CLINICAL MANIFESTATIONS
- Symptoms and signs
- Initial test results
- - Electrocardiogram
- - Chest radiograph
- DIAGNOSIS AND EVALUATION
- When to suspect Ebstein anomaly
- Approach to diagnosis and evaluation
- Key imaging tests
- - Echocardiography
- Key features
- GOSE score (Celermajer index)
- - CMR
- Additional tests
- - Exercise testing
- - Arrhythmia evaluation
- - Cardiac catheterization
- DIFFERENTIAL DIAGNOSIS
- SUMMARY AND RECOMMENDATIONS