This document discusses a case of Ebstein's anomaly in a 57-year-old male presenting with shortness of breath and leg swelling. Echocardiography and ECG findings were consistent with Ebstein's anomaly. Key features of Ebstein's anomaly include apical displacement of the tricuspid valve leading to atrialization of the right ventricle. Clinical manifestations depend on severity and include heart failure in neonates or arrhythmias and emboli in milder cases. Management involves surgery for symptomatic patients and monitoring for complications in asymptomatic cases.

1. DR AADHANARVEE
1 S T Y E A R P O S T G R A D U A T E M 6 U N I T
PROF DR SAMUEL DINESH MD
I N S T I T I T E O F I N T E R N A L M E D I C I N E
PHYSICIAN CONFERENCE
IMAGE OF THE WEEK

2. BRIEF HISTORY:
A 57 year old male who is a known case of a congenital
heart disorder presented with chief complaints of
 Shortness of breath for 4 days
Insidious in onset, progressive in nature
NYHA grade 3 to 4, associated with orthopnea and
paroxysmal nocturnal dyspnea.
 Bilateral swelling of legs for 1 week

3. At presentation, his vitals were:
PR: 120/min, regular, no special character, no radio-
radial or radio-femoral delay
BP: 150/90 mmhg
RR: 30/min
SpO2: 85% under room air
Temperature: 96.4 F

4. General examination
 Patient was conscious, irritable, dyspneic and
tachypneic.
 Moderately built and nourished.
 Bilateral pitting pedal edema was present.
 No pallor, no icterus, no clubbing, no cyanosis, no
lymphadenopathy was present.

5. Systemic examination
CVS: S1 and S2 was present. A systolic murmur of
grade 3/6 was heard over the left sternal border.
RS: Bilateral air entry was present. No added sounds
was heard
PA: Soft, no palpable organomegaly present.
CNS: Bilateral pupils were 3mm and reactive to light.
No focal neurological deficits were present.

10. ECG findings in our patient:
 ECG with normal standardisation of 25mm/sec
 Normal sinus rythm.
 Heart rate of 75beats/ min
 Axis: Left axis deviation- (-60degrees)
 P wave is normal in size, PR interval is not prolonged.
 QRS duration is prolonged in all the leads and the
voltage is relatively low
 RBBB morphology along with Left axis deviation,
suggestive of a Left anterior fascicular block.
 Poor progression of R wave in the chest leads.

11. ECG in Ebstein’s anomaly:
1. Abnormal P waves: The changes in P wave morphology
are due to right atrial enlargement.
 The axis of P wave is shifted to right of 60 degrees.
Hence P waves are tall in leads II, III and avF with
P3>P1
 The contour of P wave is tall and peaked,often refered
to as P pulmonale. When the amplitude of P wave is
more than 5mm, they are referred to as Himalayan P
waves
 The duration of P wave is usually not prolonged unless
there is left atrial enlargement.

12. 2. Prolongation of PR interval: This is primarily due to
intra atrial conduction delays rather than AV nodal
conduction delays.

15. 3. Infranodal conduction abnormalities which include:
 Right Bundle Branch block
ECG changes of RBBB is best recognized in the
preocordial leads than limb leads.
The hallmark feature of RBBB is wide QRS complex
(>120msec) with large terminal R’ waves in V1 and
wide terminal S waves in V6 as well as leads I and
aVL.

16. Fragmented QRS complex:
 The fragmented QRS complex also known as “splintered,”
“fractionated,” or “second QRS”), is a normal shaped R wave
directly followed by a broad positive deflection (R′) of lower
amplitude.
 Intracardiac mapping has shown that this fragmentation of the QRS
complex is due to the late depolarization of the atrialized right
venrtricle.
 On histologic studies, this atrialized right ventricle has been found
to have a decreased number of cardiomyocytes and also associated
with progressive myocardial fibrosis and scarring. This in turns
leads to delayed conduction and fragmentation of the QRS complex.

17.  The presence of a fragmented QRS is indicative of
greater severity of Ebstein’s anomaly. These patients
have larger atrialized right ventricle, larger right
ventricular end diastolic volume, more severe
tricuspid regurgitation, and worse right ventricular
systolic function.

19. 4. Type B Wolf-Parkinson White pre-excitation:
About 10-20% of patients with Ebstein’s anomaly have
a WPW syndrome component with more than one
bypass tract, usually present in the right ventricle.
WPW syndrome is characterized by:
 Short PR interval
 Delta wave
 ST and T wave abnormalities

21. CXR PA and Lateral view of our patient

22. CHEST XRAY FINDINGS:
CXR PA view:
 Inspiratory film, mild rotation to the left, adequate
penetration
 Trachea is deviated to the right.
 The right cardiac sillhoute is distorted and enlarged due
to right atrial hypertrophy
 The left heart border is concave and less prominent due
to decreased blood flow in the main pulmonary artery.
 The apex is pushed laterally and is slightly upturned
because of the large atrialized part of right ventricle. This
gives us the appearance of a boot shaped heart though
not very classic
 Pulmonary oligemia is present.

23. Chest radiography in ebsteins anomaly:
 The right atrium is prominent and makes up the right
heart border. The size of the right atrium correlates with
the disease severity, producing a classic “BOX” shaped
heart also known as a “Wall-to-Wall” heart. Marked
rightward convexity of the enlarged right atrium together
with marked leftward convexity of the enlarged
infundibulum account for a boxlike configuration
 Mild to severe pulmonary oligemia depending on the
severity of the disease. Severe oligemia correlates with
cyanotic Ebsteins disease, usually seen in the pediatric
age group.
 The vascular pedicle is narrow because of the low blood
flow through the pulmonary trunk

25. APPROACH TO CHEST XRAY IN CONGENITAL
HEART DISEASES
Eventhough the role of xrays has largely been reduced with
advent of more sophisticated imaging like
echocardiography and MRI, xrays do play a vital role in
giving an initial clue to the diagnosis. The following
algorythm will help us narrow down our differentials on
seeing an xray:
1. Pulmonary Vasculature
2. The aorta
3. The pulmonary artery
4. Cardiac size and shape

26. The Pulmonary vasculature:
 Congested pulmonary vasculature:
Active pulmonary congestion represents an increased pulmonary blood
flow. This is seen in left-to-right shunts wherein the right ventricular
output is approximately 3 times that of left ventricle.
The pulmonary vasculature is tortuous and are seen more peripherally.
 Pulmonary Oligemia:
Oligemia of the pulmonary vasculature represents decreased blood flow
through the pulmonary circulation, usually as a result of right ventricular
outflow obstruction with an associated right-to-left shunt.
If the proximal pulmonary arteries are enlarged, with pruning of the
peripheral vascular markings, then pulmonary arterial
hypertension should be considered.

27. INCREASED PULMONARY
VASCULARITY
DECREASED PULMONARY
VASCULARITY
Truncus arteriosus Tetrology of fallot
Transposition of great arteries Tricuspid atresia
Total anomalous pulmonary venous
connnection
Ebsteins anomaly
Left to right shunts like VSD, ASD and
PDA

28. ASD with left to right
shunt
VSD with left to right
shunt

29.  Pulmonary oligemia wiyh
a narrow vascular pedicle
seen in a case of
Ebstein’s anomaly

30. 2. The Aorta:
An enlarged aortic knob may represent:
 Post-stenotic dilatation as in Congenital aortic stenosis.
 Increased blood flow through the aorta, which may
indicate any of the following:
 patent ductus arteriosus
 truncus arteriosus
 severe tetralogy of Fallot
 A small aortic knob usually represents reduced blood flow
typically due to ASD or VSD. It may also be primarily
hypoplastic in hypoplastic left heart syndrome.

31. Dilated ascending aorta in congenital
aortic stenosis
Dilated ascending aorta, main
pulmonary artery and pulmonary
plethora in PDA

32. 3. The pulmonary artery:
A small/inapparent pulmonary artery: This can be
due to
 Decreased pulmonary flow due to outflow obstruction: eg
tetrology of fallot
 Congenital hypoplasia or aplasia of right ventricular
outflow tract.
 Abnormal position of the pulmonary trunk as seen with
transposition of great arteries and truncus arteriosus

33. An enlarged pulmonary artery may represent:
 Post-stenotic dilatation
 in pulmonary valve stenosis, the left pulmonary artery
preferentially dilates due to the orientation of the stenotic jet
 Increased pulmonary blood flow
 left-to-right shunts
 pulmonary valvular insufficiency
 Pulmonary arterial hypertension
 both the right and left pulmonary arteries will enlarge which
distinguishes this from pulmonary valve stenosis; there may
also be associated peripheral pulmonary vascular pruning

34. Dilated main pulmonary artery with
peripheral vascular pruning in PAH
A small inapparent pulmonary artery
with pulmonary oligemia in TOF

35. 4. Cardiac size and shape
Finally, the heart itself may be abnormal in size or
demonstrate alterations in shape representing
underlying chamber enlargement or anatomic anomalies.
It is also important to assess the correct orientation of
the heart by looking for the liver/stomach below the
diaphragm and reviewing side markers. Some of the
characteristic cardiac anomalies and their xrays are:
Snowman heart- Total Anomalous Pulmonary Venous
Connection.
Egg on string appearance- Transposition of Great Vessels.
Boot shaped heart- Tetrology of fallot.

36. TAPVC- Snowman’s heart
TGA- Egg on string
appearance

37.  Step 5: spine, rib cage and sternum
 The vertebrae should be assessed for congenital
anomalies including scoliosis which is present in 6%
of patients with a congenital heart defect, but only
0.4% of the normal population .
 Ribs may demonstrate notching in coarctation of the
aorta or maybe only number 11 in patients
with Down syndrome. Down syndrome children may
also show hypersegmented sternums.

38. Coarctation of aorta
with inferior rib
notching. We can also
see the figure of 3 sign
due to pre-stenotic
dilatation of arch of
aorta and the post
stenotic dilatation of
descending aorta.

39. ECHOCARDIOGRAPHY IN EBSTEN’S
ANOMALY
 Echocardiography with color flow imaging and
Doppler interrogation is the diagnostic test of choice
and is used to establish the diagnosis and severity of
Ebstein’s anomaly.
 Echocardiography can also identify a patent foramen
ovale or an ostium secundum atrial septal defect.
The inter atrial connection can further be confirmed
with the help of colour flow doppler.

40.  The key diagnostic finding for Ebstein anomaly is the
apical displacement of the septal tricuspid valve
leaflet indexed to the body surface area (by ≥8
mm/m2 [compared with the position of the anterior
mitral valve leaflet]) demonstrated in the apical four-
chamber view. The degree of displacement affects
the severity of clinical manifestations.
 Apical displacement of the septal tricuspid leaflet in
the anomaly exceeds 15 mm in children and 20 mm
in adults

41.  GOSE score (Celermajer index) — The Great
Ormond Street Score (GOSE) is commonly used for
echocardiographic evaluation of the neonate. This
score is defined as the ratio of the area of the right
atrium and atrialized right ventricle to the combined
area of the functional right ventricle, left atrium, and
left ventricle; the greater the ratio, the worse the
prognosis

44. Discussion:
 The anomaly or malformation that Ebstein described
occurs in approximately 1 in 20,000 live births,5,12,13
accounts for 0.3% to 0.7% of all cases of congenital heart
disease, and represents about 40% of congenital
malformations of the tricuspid valve.
 A salient anatomic feature is the level of the hinge points
of the septal and posterior leaflets, which are
characterized by apical displacement of their basal
attachments, adherence to the underlying myocardium,
and impaired movement because of short chordae
tendineae and nodular fibrotic thickening

46. Morphological features of ebsteins anomaly:
TRICUSPID VALVE:
 The tricuspid valve leaflets demonstrate variable
degrees of failed delamination (separation of the
valve tissue from the myocardium) with fibrous and
muscular attachments to the right ventricular
myocardium.
The posterior (inferior) and septal tricuspid valve
leaflets are generally most severely affected, related
to the failure of delamination from the myocardium.

47.  The tricuspid valve functional orifice is generally
displaced anteriorly and downward from the
atrioventricular junction toward the right ventricular
apex, and sometimes superiorly toward the right
ventricular outflow tract along the direction of blood
flow.
 the tricuspid valve typically shows variable degrees
of regurgitation; a severe degree of regurgitation is
common. Tissue defects within the leaflets of the
tricuspid valve ("fenestrations") may contribute to
the regurgitation.

49. :
RIGHT VENTRICULAR CHANGES:
The displacement of the valve divides the right
ventricle into two chambers:
 The proximal portion is called "atrialized right
ventricle" because of a downward displacement of
the tricuspid valve and functional orifice.
 The distal chamber, the functional right ventricle, is
of variable size . This portion of the right ventricle
may appear small on the echocardiographic apical
four-chamber view but often still appears enlarged
by cardiovascular magnetic resonance (CMR)
imaging.

50. The other cardiovascular defects that maybe associated
with Ebsteins anomaly include:
 Atrial septal defect: This is the most common
association, almost seen in 50% of patients with Ebstein’s
anomaly. It is the ostium secundum type that is usually
seen here.
 Ventricular septal defect.
 Patent ductus arteriosus.
 Pulmonary outflow obstruction is rare and may be due to
anatomic or functional pulmonary atresia, structural
pulmonic valve stenosis, or occasionally the displaced
tricuspid valve

51. Clinical Manifestations:
In general, symptoms are related to the degree of
anatomical abnormality:
 The anomaly may be fatal in utero or shortly after birth if
severe cardiomegaly, pulmonary hypoplasia due to
massive cardiomegaly, and heart failure are present,
leading to fetal hydrops or neonatal death.
 In contrast, patients with milder apical displacement and
milder dysfunction of the tricuspid valve (mild to
moderate tricuspid regurgitation) may remain
asymptomatic through adulthood or present in
adulthood with arrhythmia or paradoxical embolic event

52. Management:
The management depends on the degree of severity of the
symptoms.
 In symptomatic children and adults: Surgical
management is preferred- Tricuspid valvuloplasty with
correction of the inter atrial connection is done.
 In asymptomatic cases, medical management is
sufficient,depending on the severity of tricuspid
regurgitation and right heart failure. Periodic monitoring
to look for development of pre excitation arrythmias,
paradoxical emboli formation, right ventricular
dysfunction is of utmost importance in the follow-up of
these patients.

53. REFERENCES
 Perloff’s Clinical recognition of Congenital Heart
Disease.
 Park’s The Pediatric Handbook of Cardiology.
 Nelson’s textbook of Pediatrics.