Ebstein's anamoly

1. Ebstein’s anomaly

2. Ebstein's anomaly
• Ebstein’s anomaly was
named after Wilhelm
Ebstein, who in 1864
described the heart of
the 19 year old Joseph
Prescher.

3. Incidence/prevalence
• 2.4 per 10,000 live births.
• Accounts for 0.3% to 0.7% of all cases of
congenital heart disease.
• It represents about 40% of congenital
malformations of the Tricuspid valve.

4. Normal TV
• The semicircular or quadrangular anterior leaflet is the
largest of the three.
• The posterior leaflet is scalloped.
• The septal leaflet attaches chiefly to the ventricular
septum.
• The septal leaflet normally exhibits a slight but distinct
apical displacement of its basal attachment compared
with the mitral valve: 15 mm in children, and 20 mm in
adults.

5. Basic anatomic anomaly?

6. Pathological Anatomy
• EA is a malformation of the tricuspid valve and
right ventricle characterized by
(1) Adherence of the septal and posterior
leaflets to the underlying myocardium
(2) Downward(apical) displacement of the
functional annulus (septal>posterior>anterior)

7. Pathological Anatomy
(3) Dilation of the “atrialized” portion of the
right ventricle, with various degrees of
hypertrophy and thinning of the wall
(4) Redundancy, fenestrations, and tethering of
the anterior leaflet; and
(5) Dilation of the right atrioventricular junction
(true tricuspid annulus)

8. DELAMINATION
• Normal myocardial development – Delamination
begins at tips of leaflets and reaches toward the
AV junction
• A normal, completely delaminated leaflet wil
have hinge point at or near the anatomic
tricuspid valve
• Failure of delamination (namely splitting of the
tissue by detachment of the inner layer during
embryologic development) results in leaflets that
variably adhere to the underlying myocardium

10. Downward Displacement

11. • Functional orifice gets shifted towards RV
apex or into RV outflow tract
• Not just linear shift it is rotational or spiral in
nature
• Adhered portions have little or no motion
• Large coaptation defect – severe TR
• Septal hinge point is inferior to attachment
point of anterior mitral leaflet

13. Displacement Index
• Distance between the two septal hinges in the
four chamber view is divided by patients body
surface area to caluculate a “Displacement
Index “
• Index values >8 mm/m2 - distinguish EA from
others

15. • Downward displacement of STL is associated
with discontinuity of central fibrous body and
septal AV ring - potential substrate for
accessory pathways and preexcitation
• Associated with WPW type B – rt sided
pathways are more common

16. RT Heart – 3 components
• RA Proper
• Inlet portion of RV [Atrialized]
• Trabecular and outlet portion[Functional RV]
• The greater the apical displacement of the
posterior and septal leaflets, the larger the
atrialized RV and the smaller the functional RV.

18. Atrialized RV
• Thin walled
• Devoid of muscle tissue
• Dilated often aneurysmally[1/2 of RV volume]
• Paradoxical expansion in systole –passive
reservoir

19. Functional RV
• An absolute decrease in the number of
myocytes .
• An increase in fibrosis
• Both responsible for infundibular dilation

20. Communication between atrialised RV
and functional RV?
• Free communication
• Slits or perforations in the ATL
• Separated by a muscular partition or shelf that
restricts flow
• Anteromedial commissure is fused and the ATL is
intact, the tricuspid orifice is imperforate.

21. • Two thirds of hearts - show dilated right
ventricles.
• Dilatation involves not only the atrialized
inlet portion of the right ventricle but also the
functional right ventricular apex and outflow
tract.

22. • Right ventricular dilatation is so marked that
the ventricular septum bulges leftward,
compressing the left ventricular chamber.
• In extreme cases, episodic left ventricular
outflow tract obstruction can occur.

23. • Most patients have RV dysfunction (both
atrialized and functional ventricle)
• More than a valve disease – a cardiomyopathy

24. Anterior leaflet
• Redundant
• Contains muscular strands
• Mobility is impaired – thickening, nodularity,
fibrosis and multiple short chordae
• Described as SAIL – LIKE

26. Abnormalities of Left heart
• Seen in 39% cases
1. Derangements in left ventricular geometry
2. Impairment of systolic and diastolic function
3. Noncompaction
4. MVP
5. Accessory MV Tissue
6. Bicuspid / atretic AV
7. Subaortic stenosis

27. Associated cardiac defects
• ASD or PFO
• VSD with or without PA
• RVOTO
• PDA
• COA
• AP 15-20% cases around malformed TVO
• CCTGA Lt sided Ebstenoid TV.

28. Classification
 Attenhofer Jost CH et al: Based on
mild/moderate/severe apical displacement,TR and
RV size
 Carpentier classification(on surgery table
finding):A,B,C,D
 Danielson GK(Based on Carpentier
classification):I,II,III &IV

29. Carpentier et al classification
• Type A – volume of rt ventricle is adequate
• Type B – large atrialised component of the right
ventricle. Anterior leaflet moves freely
• Type C – anterior leaflet is severely restricted and
causes significant obstruction to RVOT
• Type D – complete atrialisation of the ventricle
with the exception of small infundibular
component

30. Carpentier et al

31. Danielson GK
I II III IV
The ATL is larger and
mobile but the
posterior and STL are
apically displaced,
dysplastic, or absent.
The ARV size varies
from relatively small
to large.
The anterior,
posterior, and often
septal leaflets are
present, but are
relatively small and
displaced in a spiral
fashion toward the
apex. The atrialized
ventricular chamber
is moderately large.
The ATL is restricted
motion with
shortened, fused,
and tethered
chordae. Direct
insertion of papillary
muscles into the
anterior leaflet is
frequently present.
The posterior and
septal leaflets are
displaced, dysplastic,
and usually not
reconstructable. The
ARV is large.
The ARV is severely
deformed and
displaced into the RV
outflow tract. PTL is
typically dysplastic
or absent, and the
septal leaflet is
represented by a
ridge of fibrous
material descending
apically from the
membranous
septum. TV
displaced into the
RVOT and may cause
obstruction of blood
flow (functional
tricuspid stenosis).
RV=ARV

32. Physiological consequences-
determinants
• Morphologic derangement of the tricuspid
leaflets
• Hemodynamic burden imposed on an inherently
flawed right ventricle
• Left ventricular function
• Atrial rhythm

33. • The tricuspid orifice is typically incompetent,
occasionally stenotic, and rarely imperforate.
• The thin-walled atrialized RV is either passive or
functions as an aneurysm –expands paradoxically
in systole.
• Functional impairment of the RV depends on the
severity of TR , size of the RA and atrialized RV
relative to the size of the functional RV.
• Atrial tachyarrhythmias have serious physiologic
implications with Accessory pathways.

34. Rt to Lt shunt
• Neonates [ high PVR]
• Old age - RV Filling pressure ↑
• Stenotic/imperforate - T.orifice

35. EM Properties –basis for clinical
diagnosis

36. Mechanical stimulation of ARV- PVT
• Clusters of ventricular cardiomyocytes are
isolated within a fibrous matrix .
• It prevents spiral/scroll reentrant waves from
anchoring.
• When spiral/scroll waves do not anchor, they
meander erratically as polymorphic
ventricular tachycardia.

37. LV function affected
• Geometric distortion of the ventricle
• Reduced end-diastolic volume
• Paradoxical motion of the ventricular septum
• An increase in fibrous tissue, and a decrease in
cardiomyocytes in the free wall and septum.

38. History
• Males and females are equally affected
• Familial Ebstein’s anomaly has been reported( more
common in twins and in those with family history of
CHD
• Relative risk of Ebstein’s anomaly is increased by 28fold
in offspring exposed to in utero lithium carbonate.
• Maternal exposure to benzodiazepines

39. Genetic factors
• NKX 2.5 mutations
• 10 p13-p14 deletion
• 1p34.3-p36.11 deletion
• MYH7 gene mutation

40. Clinical presentation
• Most common age related presentations
1 - Detection of anomaly in a routine fetal ECHO
2 - Neonatal cyanosis
3 - Heart failure in infancy
4 - Murmur in childhood
5 - Arrhythmias in adolescents and adults

41. Clinical Presentation
• Foetus – poor prognosis – cardiomegaly,
hydrops, pulmonary parenchymal
hypoplasia,tachyarrhythmias
• Neonates –congestive heart failure due to
tricuspid valve regurgitation, cyanosis, and
marked cardiomegaly caused by right heart
dilation.
• Neonates – 20 to 40% donot survive 1 month ,
<50% survive – upto 5 years.

42. • Symptomatic children with Ebstein’s anomaly
may have progressive rightsided heart failure,
but most will reach adolescence and
adulthood
• In subjects <2 years old at presentation, a
haemodynamic problem is more common
than in older patients (72% versus 29%, p
<0.01).
• In subjects >10 years old at presentation, an
electrophysiological problem is more common
than in younger patients

44. Clinical Presentation
• Adults - arrhythmias , progressive cyanosis,
decreasing exercise tolerance, fatigue, or
right-sided heart failure
• Exercise tolerance depends on – Oxygen
saturation and heart size

45. SCD
• Threat regardless of severity of the anomaly
• Responsible for the decline in survival rate in the fifth
decade
• WPW - Atrial flutter or fibrillation with accelerated
conduction -major increase in the risk of SCD.
• Arrhythmogenic ARV - Spontaneous VT/fibrillation
looms as a threat.
• The onset of chronic AF prefigures death within 5
years.

46. Chestpain
• Is an enigma.
• The pain is retrosternal, epigastric or in the right
or left anterior chest.
• It is sharp, stabbing, or shooting, features that
suggest serous surface origin.
• A fibrinous pericardium has been found at
necropsy over the atrialized RV.

47. Paradoxical Embolisation
• In the presence of an interatrial
communication, the risk of paradoxical
embolisation, brain abscess and sudden death
is increased

48. Pregnancy
• Poorly tolerated
• Cyanosis may first become manifest.
• Hypoxemia increases the risk of fetal wastage.
• A right-to-left interatrial shunt incurs a puerperal
risk of paradoxical embolization.
• PAT are potential hazards during pregnancy
especially with AP.

49. Physical appearance
• Growth and development are normal - in patients
asymptomatic as neonates and infants.
• Persistent cyanosis or intermittent exercise-induced
cyanosis occurs in > 50% of cases.
• Clubbing
• Precordial asymmetry - usually left parasternal
prominence, but occasionally the right anterior chest is
prominent( enlarged Rt atrium ).

50. Pulse
• Pulse is normal
• Decreases when ventricular stroke volume
falls

51. JVP
• Prominent C wave
• Preserved X descent /normal V waves despite
severe TR – damping effect of rt atrium and
atrialized ventricle ,TR is low pressure and
hypokinetic
• Gaint A wave – stenotic/imperforate TV
• Prominent A and V - RHF

52. Inspection and palpation
• Precordial asymmetry
• LVI
• Absent systolic impulse over inflow portion of
RV – negative sign
• Systolic impulse –L3ICS-Infundibular dilation.
• RVI ,Tricuspid systolic thrill – neonates.

53. Percussion
• Cardiac dullness beyond RT parasternal border
by 2-3 cm where it merges with liver dullness
due to RAE

54. AUSCULTATION
• S1 – Wide split
• M1 – T1 ,Loud and delayed T1[Sail sound]
• Delayed T1 – Complete RBBB, Hypokinetic RV, Large
and increased excursion and tension of ATL .
• PR prolongation – soft M1
• Preexcitation of RV – Early loud T1 /Buried M1

55. 37 female acyanotic

56. S2
• Often Single – P2 inaudible –low pressure in
PT
• Wide split S2 – complete RBBB
• Little variation with respiration
• Paradoxical split S2 – RV preexcitation

58. S3 /S4
• Produce a distinctive triple or quadruple
rhythm
• Often summate because of PR interval
prolongation
• May increase during inspiration
• Sometimes sufficiently prolonged to produce
short diastolic murmurs

60. Opening sounds
• Early diastolic sounds with the timing of
opening snaps have been described .
• Attributed to opening movements of the large
mobile ATL.

61. Systolic murmur -TR
• Low pressure TR from hypokinetic low
pressure RV
• Soft, decrescendo, medium frequency, grade 2
to 3/6 intensity, prominent leftward location
towards apex, no increase with inspiration

62. 17y old acyanotic /prominent murmur
near apex.

63. • However, in neonates with Ebstein’s anomaly,
the TR murmur is holosystolic because right
ventricular systolic pressure is elevated.
• The timing and quality of systolic and diastolic
murmurs occasionally create the impression
of a pericardial friction rub.
• Hepatomegaly – uncommon

64. •