MioAtlas
G4: Congenital heart disease

Ebstein anomaly

Congenital malformation of tricuspid valve and right ventricle characterized by failure of embryological delamination with consequent apical displacement and adherence of septal and posterior tricuspid leaflets to right ventricular myocardium.

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Definition

Congenital malformation of tricuspid valve and right ventricle characterized by failure of embryological delamination with consequent apical displacement and adherence of septal and posterior tricuspid leaflets to right ventricular myocardium. This divides right ventricle into two components: a proximal 'atrialized' portion (anatomically ventricular but hemodynamically integrated into right atrium) with thinned wall, and a reduced distal 'functional' portion. Associated with a redundant anterior tricuspid leaflet with sail-like fluttering motion, severe tricuspid regurgitation, massive right atrial dilation, and high prevalence of accessory atrioventricular pathways (Wolff-Parkinson-White syndrome) [C5] [G4-03].

Severity criteria

  • Mild (L):
    • Apical displacement of septal tricuspid leaflet ≥ 8 mm/m² of body surface area (diagnostic criterion relative to anterior mitral annulus) but < 15 mm/m² [C5] [G4-03].
    • Mild tricuspid regurgitation, functional RV of normal size and function.
  • Moderate (M): Apical displacement 15–20 mm/m², moderate tricuspid regurgitation, Celermajer index 0.50–0.99 with moderate right atrial dilation [C5] [G4-03].
  • Severe (G):
    • Marked apical displacement > 20 mm/m², severe tricuspid regurgitation (regurgitant volume ≥ 45 mL, vena contracta (VC) ≥ 7 mm) [C5] [G4-03].
    • Celermajer index ≥ 1.0 (right atrium area + atrialized RV area ≥ functional chamber area), giant right atrium, and systolic dysfunction of functional RV [C5] [G4-03] [G4-10].

Findings by layer

Hemodynamics

  • Tricuspid regurgitation (regurgitant volume in mL, regurgitant fraction): L < 30 mL (<30%), M 30–44 mL (30–49%), G ≥ 45 mL (≥50%) [C5] [G4-03].
  • Right atrial pressure: Elevated in severe forms with blunted v wave due to high compliance of giant atrium [B3] [G4-03].
  • Systemic cardiac output: Reduced in severe forms due to impaired left ventricular filling [C5] [G4-03].

Rhythm

  • Habitual sinus rhythm or rhythm with ventricular pre-excitation (Wolff-Parkinson-White type pre-excitation) via right accessory pathways (present in 15–25% of patients) [C5] [G4-03].
  • Atrial fibrillation, atrial flutter, and reentrant supraventricular tachycardias [C4] [C5] [G4-03].

ECG

  • Giant P waves ('Himalayan P waves' / P pulmonale): Tall, peaked P waves of marked amplitude (> 3–5 mm in II, III, aVF, and V1) generated by massive right atrial dilation and hypertrophy [E1] [G4-03].
  • Complete or atypical right bundle branch block (complete right bundle branch block with fractionated morphology and polyphasic QRS in V1) [E2] [G4-03].
  • Delta wave / WPW pattern pre-excitation (delta wave with short PR and initial slurring of QRS) [E2] [G4-03].
  • Prolonged PR interval (1st-degree AV block) [E2] [G4-03].

Heart sounds and murmurs

  • Widely split first heart sound (S1) with Sail Sound: Wide splitting of S1 with intensely delayed, high-pitched, resonant tricuspid component (T1) ('sail sound' or tricuspid clack), produced by sudden deceleration of giant anterior leaflet in systole [G1-10] [G4-03].
  • Second heart sound (S2): Widely split (S2 split wide) due to electromechanical delay of right ventricle [G1-11] [G4-03].
  • Tricuspid regurgitation murmur: Holosystolic murmur at lower left sternal border and xiphoid process increasing with inspiration (positive Rivero-Carvallo sign) [G1-14] [B1] [G4-03].
  • Multiple gallop rhythm (triple or quadruple rhythm): Combination of split S1 with sail sound, split S2, and right-sided third (S3) and/or fourth (S4) heart sound [G1-12] [G1-13] [G4-03].

Arterial pulse

  • Small or normal carotid and peripheral pulse (parvus) in low output forms [B4] [G4-03].

Jugular venous pulse

  • Jugular venous distension with elevated mean venous pressure; TR v wave may be attenuated by enormous capacitance of giant right atrium [B3] [G4-03].

Maneuvers

  • Deep inspiration: Markedly increases intensity of tricuspid regurgitation murmur (Rivero-Carvallo maneuver) due to increased venous return to RV [B1] [G4-03].
  • Valsalva maneuver: Attenuates murmur during strain phase and promptly enhances it after release [B1].

Simulator severity grades

Simulator severity grades: Mild, Moderate, Severe
Baseline rhythm: Complete Right Bundle Branch Block

Also known as: Ebstein anomaly · Ebstein's anomaly · Ebstein malformation

Other pathologies in this group

Sources

  1. [B1] Bedside diagnosis of systolic murmurs . N Engl J Med (1988) . DOI: 10.1056/NEJM198806163182404 PubMed: 2897627
  2. [B3] The jugular venous pressure revisited . Cleve Clin J Med (2013) . DOI: 10.3949/ccjm.80a.13039 PubMed: 24085809
  3. [B4] The Carotid Pulse . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250154
  4. [C4] 2025 ACC/AHA/HRS/ISACHD/SCAI Guideline for the Management of Adults With Congenital Heart Disease: A Report of the American College of Cardiology/American Heart Association Joint Committee on Clinical Practice Guidelines . Circulation (2026) . DOI: 10.1161/CIR.0000000000001402 PubMed: 41411375
  5. [C5] 2020 ESC Guidelines for the management of adult congenital heart disease . Eur Heart J (2021) . DOI: 10.1093/eurheartj/ehaa554 PubMed: 32860028
  6. [E1] AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part V: electrocardiogram changes associated with cardiac chamber hypertrophy: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology . Circulation (2009) . DOI: 10.1161/CIRCULATIONAHA.108.191097 PubMed: 19228820
  7. [E2] AHA/ACCF/HRS recommendations for the standardization and interpretation of the electrocardiogram: part III: intraventricular conduction disturbances: a scientific statement from the American Heart Association Electrocardiography and Arrhythmias Committee, Council on Clinical Cardiology; the American College of Cardiology Foundation; and the Heart Rhythm Society: endorsed by the International Society for Computerized Electrocardiology . Circulation (2009) . DOI: 10.1161/CIRCULATIONAHA.108.191095 PubMed: 19228822
  8. [G1-10] The First Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250175
  9. [G1-11] The Second Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250183
  10. [G1-12] The Third Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250184
  11. [G1-13] The Fourth Heart Sound . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250185
  12. [G1-14] Systolic Murmurs . Clinical Methods: The History, Physical, and Laboratory Examinations (1990) . PubMed: 21250186
  13. [G4-03] Ebstein's anomaly . Circulation (2007) . DOI: 10.1161/CIRCULATIONAHA.106.619338 PubMed: 17228014
  14. [G4-10] Congenital heart disease in adults. Second of two parts . N Engl J Med (2000) . DOI: 10.1056/NEJM200002033420507 PubMed: 10655533
  15. [V3] Recommendations for Noninvasive Evaluation of Native Valvular Regurgitation: A Report from the American Society of Echocardiography Developed in Collaboration with the Society for Cardiovascular Magnetic Resonance . J Am Soc Echocardiogr (2017) . DOI: 10.1016/j.echo.2017.01.007 PubMed: 28314623