Ebsteins Anomaly For DM class presentation

1. EBSTEINS ANOMALY
Dr Hafeesh Fazulu
DM Resident

2. HISTORY
• 1866 – Autopsy Report by Wilhelm Ebstein
reported a strikingly ABNORMAL Tricuspid
valve
• Anterior leaflet – normal
• But SEPTAL & INFERIOR leaflets were
abnormal
• 1950 – clinically recognised.

3. NORMAL TRICUSPID VALVE

4. • Normal tricuspid leaflets consist of basal attachments to the annulus
(right atrioventricular sulcus), peripheral zones into which chordae
tendineae insert, and clear zones that lie between the basal
attachments and the peripheral zones.
• The semicircular or quadrangular anterior leaflet is the largest of the
three.
• The posterior leaflet is scalloped.

5. • The septal leaflet attaches chiefly to the
ventricular septum , but part of its basal
attachment is to the posteriorwall of the right
ventricle.
• The septal leaflet normally exhibits a slight but
distinct apical displacement of its basal
attachment compared with the mitral valve

6. MORPHOLOGY in EBSTEINS
1. Adherence of the septal and inferior leaflets to the underlying
myocardium.
2. Downward displacement of the functional annulus.
3. Dilation of the “atrialized” portion of the RV, with variable degrees of
thinning of the free wall.
4. Redundancy, fenestrations and tethering of the anterior leaflet.
5. Dilation of the right AV junction (true tricuspid annulus).

9. PATHOPHYSIOLOGY

11. EPIDEMOLOGY
• 0.3-0.8% of all congenital heart diseases.
• 1 in 20,000-50,000 live births.
• Equal male: female occurrence.
• The relative risk of Ebstein’s anomaly is increased by 500-fold in
offspring exposed to in utero lithium carbonate (Danish registery).
• Mortality in the neonatal period is 20%-40%. and less than 50%
survive to 5 years.
• Mortality at all ages is 12.5%

12. • ASD/PFO in 80-94%
• Additional associated anomalies : VSD +/- pulmonary atresia RVOT
obstruction PDA Coarctation
• Left sided lesions in 39%: MVP, systolic dysfunction,
Subaorticstenosis, BAV, LV muscle bands, LV noncompaction in 18%.
• Accessory conduction pathway in 15-20%, usually near the orifice of
TV.
• CCTGA (15-50% of CCTGA patients meet criteria for EA).

13. ETIOLOGY & GENETIC FACTORS
• More common in twins.
• Family history of congenital heart disease
• Maternal exposure to benzodiazepines.
• Maternal lithium therapy.
• Most cases are sporadic.
• Familial Ebstein’s anomaly is rare.

14. Genetic factors
• Rare cases of cardiac transcription factor NKX2.5 mutations,
• 10p13-p14 deletion, 1p34.3-p36.11 deletion have been described in
the anomaly .

15. NATURAL HISTORY
• Depends on severity
• When valve deformity is extreme – death
in utero
• Severe – Symtoms in Neonate
• Moderate – Symtoms in Adolescence or
young adult
• Mild – survival to 9th decade reported.

16. CLINICAL RECOGNITION
• 1994 Study Celermajer et al – 60% recognised before age 1
• 10% are undiagnosed into adulthood

17. CLINICAL FEATURES
• Most common presentation by age:
• Fetus: abnormal routine scan (86%)
• Neonates: cyanosis (74%)
• Infants: heart failure (43%)
• Children: Incidental murmur (63%)
• Teens and adults: arrhythmia (42%), decreased exercise tolerance,
fatigue, right-sided failure, paradoxical embolism, brain abscess.

18. Physical Examination
• Cyanosis - Varying degrees of cyanosis at various times in life and
transient worsening with arrhythmias.
• Precordial asymmetry
• Usually left parasternal prominence and occasionally right parasternal
prominence.
• Absent left parasternal (ie, right ventricular) lift an important negative
sign.

19. • Arterial pulses
• Usually normal
• Diminished volume
• Heart sounds
• First heart sound
• widely split with loud tricuspid component( THE SAIL SOUND )
• Mitral component - soft (long PR interval)
• Second heart sound
• usually is normal
• widely split when the pulmonary component is delayed due to RBBB.

20. • Additional heart sounds and murmurs
• Third and fourth heart sounds
• commonly present.(QUADRUPLE RHYTHM)
• Summation of third and fourth heart sounds, especially with prolonged PR
interval, can mimic an early diastolic murmur.
• The systolic murmur of tricuspid regurgitation
• Medium frequency and decrescendo in nature (grade2/6 or 3/6).
• At the lower left parasternal area and sometimes at the apex .
• Murmur intensity and duration doesnot increase during inspiration.
• The timing and quality of systolic and diastolic murmurs occasionally
create the impression of a pericardial friction rub.

21. Arrythmias
• On average, 35–50% of patients had arrhythmias at some time.
• In some studies there was an association between arrhythmias and
advancing age or increasing amount of tricuspid regurgitation.
• Over half of the arrhythmias are supraventricular tachycardias of
various types.
• About one-quarter are paroxysmal or sustained atrialfibrillation or
flutter.
• A few are high-grade conduction defects. A minority are ventricular
tachycardia, ventricular fibrillation.

22. INVESTIGATIONS

23. ECG
• Tall wide P waves
• RBBB – 72% to 92%
• Severity is related to abnormal function of the SEPTAL leaflet
• PR Prolongation – due to RA enlargement and long intra-atrial
conduction times
• Accesoory pathways – Ventricular preexcitation seen in 10-30%

25. CHEST XRAY
• Severe Cardiomegaly
• Cardiothoracic ratio > 0.6
• Was considered an indication for surgery

26. ECHOCARDIOGRAM
• Gold Standard
• Displacement Index >8 mm/m2

28. Celermajer index score/Great Ormond Street
Echocardiography (GOSE) score

29. HIGH MORTALITY

30. Neonatal Ebstein
• Neonatal Ebstein
• Poor prognosis
• Reported survival only 68%
• Indiactions for surgery
• Heart failure
• Profound cyanosis

31. Initial management
• Prostaglandin infusion
• Initiation of mechanical Ventillation
• Management of pulmonary Hypertension
a) Nitric oxide
b) Sildenafil
• Diuretics for CHF

32. INDICATIONS FOR INTERVENTION
• Cyanosis
• Right sided failure
• Poor functional capacity
• Paradoxical emboli

33. INTERVENTIONAL OPTIONS
• TV repair preferred to replacement
• Repair fesibility – depends on ANTERIOR leaflet adequacy to form a
monocusp /cone like structure

34. • 1970’s – Mayo Clinic – Danielson Monocusp Repair
• 1988 – Fench – Carpentier Repair
• 2004 – Ullman et al – Ventriculisation
• 2007 – De Silva et al – Cone Reconstruction

35. TV Repair – CONE Reconstruction
Dr Da Silva (Brazil)

36. PROGNOSIS
• With satisfactory valve repair, medium and long term prognosis are
good

37. THANK YOU