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 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".)
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.
- Lupo PJ, Langlois PH, Mitchell LE. Epidemiology of Ebstein anomaly: prevalence and patterns in Texas, 1999-2005. Am J Med Genet A 2011; 155A:1007.
- Correa-Villaseñor A, Ferencz C, Neill CA, et al. Ebstein's malformation of the tricuspid valve: genetic and environmental factors. The Baltimore-Washington Infant Study Group. Teratology 1994; 50:137.
- Pradat P, Francannet C, Harris JA, Robert E. The epidemiology of cardiovascular defects, part I: a study based on data from three large registries of congenital malformations. Pediatr Cardiol 2003; 24:195.
- Benson DW, Silberbach GM, Kavanaugh-McHugh A, et al. Mutations in the cardiac transcription factor NKX2.5 affect diverse cardiac developmental pathways. J Clin Invest 1999; 104:1567.
- Kelle AM, Bentley SJ, Rohena LO, et al. Ebstein anomaly, left ventricular non-compaction, and early onset heart failure associated with a de novo α-tropomyosin gene mutation. Am J Med Genet A 2016; 170:2186.
- Postma AV, van Engelen K, van de Meerakker J, et al. Mutations in the sarcomere gene MYH7 in Ebstein anomaly. Circ Cardiovasc Genet 2011; 4:43.
- van Engelen K, Postma AV, van de Meerakker JB, et al. Ebstein's anomaly may be caused by mutations in the sarcomere protein gene MYH7. Neth Heart J 2013; 21:113.
- Yalonetsky S, Tobler D, Greutmann M, et al. Cardiac magnetic resonance imaging and the assessment of ebstein anomaly in adults. Am J Cardiol 2011; 107:767.
- BURCHELL HB, DUSHANE JW, KILBY RA, WOOD EH. Ebstein's malformation: a clinical and laboratory study. Medicine (Baltimore) 1956; 35:161.
- Attenhofer Jost CH, Connolly HM, O'Leary PW, et al. Left heart lesions in patients with Ebstein anomaly. Mayo Clin Proc 2005; 80:361.
- Watson H. Electrode catheters and the diagnosis of Ebstein's anomaly of the tricuspid valve. Br Heart J 1966; 28:161.
- SUMNER RG, JACOBY WJ Jr, TUCKER DH. EBSTEIN'S ANOMALY ASSOCIATED WITH CARDIOMYOPATHY AND PULMONARY HYPERTENSION. Circulation 1964; 30:578.
- Celermajer DS, Bull C, Till JA, et al. Ebstein's anomaly: presentation and outcome from fetus to adult. J Am Coll Cardiol 1994; 23:170.
- Seward JB, Tajik AJ, Feist DJ, Smith HC. Ebstein's anomaly in an 85-year-old man. Mayo Clin Proc 1979; 54:193.
- Watson H. Natural history of Ebstein's anomaly of tricuspid valve in childhood and adolescence. An international co-operative study of 505 cases. Br Heart J 1974; 36:417.
- LEV M, GIBSON S, MILLER RA. Ebstein's disease with Wolff-Parkinson-White syndrome; report of a case with a histopathologic study of possible conduction pathways. Am Heart J 1955; 49:724.
- Cappato R, Schlüter M, Weiss C, et al. Radiofrequency current catheter ablation of accessory atrioventricular pathways in Ebstein's anomaly. Circulation 1996; 94:376.
- Attenhofer Jost CH, Connolly HM, Scott CG, et al. Increased risk of possible paradoxical embolic events in adults with ebstein anomaly and severe tricuspid regurgitation. Congenit Heart Dis 2014; 9:30.
- Fontana ME, Wooley CF. Sail sound in Ebstein's anomaly of the tricuspid valve. Circulation 1972; 46:155.
- Warnes CA, Williams RG, Bashore TM, et al. ACC/AHA 2008 Guidelines for the Management of Adults with Congenital Heart Disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (writing committee to develop guidelines on the management of adults with congenital heart disease). Circulation 2008; 118:e714.
- Attenhofer Jost CH, Connolly HM, Dearani JA, et al. Ebstein's anomaly. Circulation 2007; 115:277.
- VAN LINGEN B, BAUERSFELD SR. The electrocardiogram in Ebstein's anomaly of the tricuspid valve. Am Heart J 1955; 50:13.
- Dearani JA, Mora BN, Nelson TJ, et al. Ebstein anomaly review: what's now, what's next? Expert Rev Cardiovasc Ther 2015; 13:1101.
- Shiina A, Seward JB, Edwards WD, et al. Two-dimensional echocardiographic spectrum of Ebstein's anomaly: detailed anatomic assessment. J Am Coll Cardiol 1984; 3:356.
- Gussenhoven EJ, Stewart PA, Becker AE, et al. "Offsetting" of the septal tricuspid leaflet in normal hearts and in hearts with Ebstein's anomaly. Anatomic and echographic correlation. Am J Cardiol 1984; 54:172.
- Bonow RO, Carabello BA, Chatterjee K, et al. 2008 Focused update incorporated into the ACC/AHA 2006 guidelines for the management of patients with valvular heart disease: a report of the American College of Cardiology/American Heart Association Task Force on Practice Guidelines (Writing Committee to Revise the 1998 Guidelines for the Management of Patients With Valvular Heart Disease): endorsed by the Society of Cardiovascular Anesthesiologists, Society for Cardiovascular Angiography and Interventions, and Society of Thoracic Surgeons. Circulation 2008; 118:e523.
- Zoghbi WA, Enriquez-Sarano M, Foster E, et al. Recommendations for evaluation of the severity of native valvular regurgitation with two-dimensional and Doppler echocardiography. J Am Soc Echocardiogr 2003; 16:777.
- Graham TP Jr, Driscoll DJ, Gersony WM, et al. Task Force 2: congenital heart disease. J Am Coll Cardiol 2005; 45:1326.
- Freud LR, Escobar-Diaz MC, Kalish BT, et al. Outcomes and Predictors of Perinatal Mortality in Fetuses With Ebstein Anomaly or Tricuspid Valve Dysplasia in the Current Era: A Multicenter Study. Circulation 2015; 132:481.
- Knott-Craig CJ, Goldberg SP, Overholt ED, et al. Repair of neonates and young infants with Ebstein's anomaly and related disorders. Ann Thorac Surg 2007; 84:587.
- Knott-Craig CJ, Goldberg SP, Kirklin JK. Surgical strategy to prevent cardiac injury during reoperation in infants. J Cardiothorac Surg 2008; 3:10.
- Celermajer DS, Cullen S, Sullivan ID, et al. Outcome in neonates with Ebstein's anomaly. J Am Coll Cardiol 1992; 19:1041.
- Attenhofer Jost CH, Edmister WD, Julsrud PR, et al. Prospective comparison of echocardiography versus cardiac magnetic resonance imaging in patients with Ebstein's anomaly. Int J Cardiovasc Imaging 2012; 28:1147.
- Kilner PJ, Geva T, Kaemmerer H, et al. Recommendations for cardiovascular magnetic resonance in adults with congenital heart disease from the respective working groups of the European Society of Cardiology. Eur Heart J 2010; 31:794.
- Cawley PJ, Maki JH, Otto CM. Cardiovascular magnetic resonance imaging for valvular heart disease: technique and validation. Circulation 2009; 119:468.
- Alfakih K, Plein S, Bloomer T, et al. Comparison of right ventricular volume measurements between axial and short axis orientation using steady-state free precession magnetic resonance imaging. J Magn Reson Imaging 2003; 18:25.
- MacLellan-Tobert SG, Driscoll DJ, Mottram CD, et al. Exercise tolerance in patients with Ebstein's anomaly. J Am Coll Cardiol 1997; 29:1615.
- 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
- How to diagnose 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
- SOCIETY GUIDELINE LINKS
- SUMMARY AND RECOMMENDATIONS