IHJ Cardiovascular Case Reports (CVCR) 4 (2020) 41e44

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IHJ Cardiovascular Case Reports (CVCR)

journal homepage: www.elsevier.com/locate/ihjccr

Case report: An uncommon association of Ebstein’s anomaly and

rheumatic mitral stenosis
Sitaram Gupta a, Ranajit Naik b, *, Mohammad Hafiz b, Nikhil Choudhary c
a
Consultant e Non Invasive Cardiology and Preventive Health, Narayana Multispeciality Hospital, Jaipur, India
b
Department of Cardiothoracic Surgery, Narayana Multispeciality Hospital, Jaipur, India
c
Consultant eInterventional Cardiologist, Narayana Multispeciality Hospital, Jaipur, India

a r t i c l e i n f o a b s t r a c t

Article history: Background: Ebsteins anamoly is a rare congenital disorder which is a common cause of congenital
Received 8 July 2019 tricuspid regurgitation.Rheumatic mitral valve disease is common in developing countries but its asso-
Received in revised form ciation with Ebsteins anamoly is very uncommon.
8 March 2020
Case summary: We describe a 22 year old female with complaints of dyspnea and palpitations diagnosed
Accepted 21 May 2020
with Ebsteins anamoly and rheumatic mitral stenosis.
Discussion: The hemodynamic consequences and the interplay of these lesions are discussed.
Keywords:
© 2020 Cardiological Society of India. Published by Elsevier B.V. This is an open access article under the
Case report
Ebsteins anamoly
CC BY-NC-ND license (http://creativecommons.org/licenses/by-nc-nd/4.0/).
Rheumatic mitral stenosis
Tricuspid regurgitation
Mitral stenosis
Natural course

Introduction
Ebstein’s anomaly is a rare congenital heart disorder affecting
tricuspid valve causing regurgitation with an incidence rate of 1 per
2,00,000 live births and accounting for 1% of all cases of congenital
heart disease.1,2
Ebstein’s anamoly mostly involve right sided heart chambers
and tricuspid valve primarily. Rarely it has been associated with
anomalies of left side of the heart which include mitral stenosis
(parachute valve), supravalvular mitral ring, cleft mitral leaflet,
mitral valve prolapse and accessory mitral valve tissue.3,4
wRheumatic heart disease (RHD) is a condition in which the
heart valves have been permanently damaged by immune
response following rheumatic fever. The heart valve damage may
start shortly after untreated or under-treated streptococcal
infection. RHD is a leading cause of acquired heart disease in
children and young adults especially in developing countries like
India. Although incidences of RHD have declined significantly in
india in recent past but still it is a major health problem. Avail-
able data from RHD studies, the estimated average prevalence is
0.5/1000 children in age group of 5e15years. There are expected
* Corresponding author.
E-mail address: drranajitbn@gmail.com (R. Naik).
to be more than 3.6 million patients of RHD estimated from 2011
census.5
However Rheumatic heart disease associated with Ebstein’s
anomaly of the tricuspid valve is a very rare clinical entity with only
a handful number of cases reported in literature especially from
India.6e9
We report here a patient with an uncommon coexistence of
Ebsteins anamoly of tricuspid valve and rheumatic mitral stenosis.
Case description
A 22 year female from rural part of Rajasthan, India presented
with chief complaints of progressive exertional dyspnoea and pal-
pitations of 2-year duration. She had dyspnoea on exertion NYHA
Class 2 since 2 years, which gradually progressed to NYHA Class 3
since last 3 months. No history of cyanosis, chest pain, syncopal
attacks or history of sore throat, joint pains in childhood.
On General Physical examination, moderately built and
moderately nourished lady with a pulse rate of 85/min and regular.
The blood pressure was 108/62 mmHg. Prominent jugular venous
pulse noted. On auscultation, the loud first heart sound with
opening snap heard. The second heart sound was widely split and
fixed. Right ventricular third heart sound was heard. A low pitched
mid diastolic murmur better heard in expiration and left lateral

https://doi.org/10.1016/j.ihjccr.2020.05.003
2468-600X/© 2020 Cardiological Society of India. Published by Elsevier B.V. This is an open access article under the CC BY-NC-ND license (http://creativecommons.org/
licenses/by-nc-nd/4.0/).
42 S. Gupta et al. / IHJ Cardiovascular Case Reports (CVCR) 4 (2020) 41e44

Fig. 1. Parasternal Short axis view showing Mitral stenosis.

position heard at apex with presystolic accentuation. A pansystolic
murmur of tricuspid regurgitation was audible. The chest was clear.
Basal crepitations, peripheral oedema and hepatosplenomegaly
were absent.
Chest X-ray showed cardiomegaly with a CT ratio of 55%, right
atrial enlargement and increased vascularity.
On Two dimensional echocardiography, Mitral valve thickened.
Anterior mitral leaflet was thickened and doming was seen. Pos-
terior mitral leaflet was fixed. Commisural fusion and chordal
thickening were also noted leading to the diagnosis of the lesion
more in favour of rheumatic etiology rather than the congenital
pathology. Mitral valve area by planimetry was 1 cm2 Fig. 1. No
Mitral regurgitation. Apical displacement of septal leaflet of
tricuspid valve up to 15 mm with elongated anterior tricuspid
leaflet and dilated right atrium seen Fig. 2. Atrial septal defect
measuring 4 mm noted. The aortic and pulmonary valves were
normal. The great arteries were normally related. Doppler studies
reveled severe tricuspid regurgitation with mild pulmonary arterial
hypertension Fig. 3. On continuous wave Doppler, the estimated
right ventricular systolic pressure was 38 mmHg assuming a right

Fig. 2. Apical 4 chamber view suggestive of Ebsteins anamoly ( apical displacement of septal tricuspid leaflet.
 S. Gupta et al. / IHJ Cardiovascular Case Reports (CVCR) 4 (2020) 41e44 43

Fig. 3. Continuous wave Doppler at tricuspid valve level suggestive of Tricuspid regurgitation.

atrial pressure of 10 mmHg. Peak and mean gradient across mitral
valve was 30 and 10 mmHg respectively Fig. 4.
Patient was advised balloon mitral valvulotomy but refused and
was lost to follow up. She was put on diuretics and pencillin pro-
phylaxis. She presented after a year and a half with no further pro-
gression of symptoms and is doing well on medical management.
Discussion
Isolated Ebsteins anamoly in childhood mostly remain unde-
tected due to non significant and mild symptoms. These patients
become symptomatic in their adulthood due to progressive right
heart failure, arrhythmia and poor functional capacity. The age of
presentation and clinical symptoms is dependent on the severity of
apical displacement of tricuspid annulus and associated anamo-
lies.10,11 As in our case a rare coexistence of Ebsteins anamoly of
tricuspid valve complicated with rheumatic mitral stenosis leads to
earlier onset of dyspnea and heart failure.
In Ebstein’s anomaly of tricuspid valve there is a inadequate
filling of the right ventricle due to tricuspid regurgitation. The
right atrium is dilated. The presence of atrial septal defect or
patent foramen ovale causes right to left shunt at atrial level.

Fig. 4. Continuous wave Doppler at mitral valve level showing increased gradients suggestive of stenosis.
44 S. Gupta et al. / IHJ Cardiovascular Case Reports (CVCR) 4 (2020) 41e44
80%e94% of patients with Ebstein’s anomaly have an interatrial
communication (ASD).12,13 However significant mitral stenosis
leads to increased left atrial pressure and causes shunting from
left to right. Thus pulmonary hypertension occurs early and
worsens the tricuspid regurgitation. The aggravation of tricuspid
incompetence leads to right ventricular dysfunction and heart
failure in an already small functional right ventricle. If associated
interatrial communication is small then pulmonary oedema can
occur.8
The anatomical variation of the tricuspid valve in Ebsteins
anamoly increases the risk of accessory atrioventricular connec-
tions and pre-excitation. 6%e36% of these patients have accessory
pathways.14,15 The presence of mitral stenosis predisposes to left
atrial dilatation with increased risk of atrial fibrillation. Ebsteins
anamoly poses the threat of tacchyarrhythmic sudden death mostly
supraventricular tachycardias irrespective of its severity. The
coexistence of mitral stenosis, atrial fibrillation with accelerated
conduction via accessory pathways can compound the risk of fast
ventricular rates and precipitous increase in pulmonary venous
pressure. However in this case the patient was in sinus rhythm and
has no history of arrhythmias. This can be attributed to the pres-
ence of atrial septal defect that could have led to non significant left
atrial dilatation in this patient.16
As in this case females of reproductive age group are more
susceptible to complications and rapid deterioration during
pregnancy. During pregnancy increase in blood volume can
exacerbate heart failure. Balloon mitral valvotomy is an excellent
treatment approach to prevent the earlier onset of symptoms and
deterioration of the patient.17 The relief of stenosis helps in
reducing the severity of pulmonary hypertension, tricuspid
regurgitation and further decreases the risk of left atrial dilata-
tion and onset of atrial fibrillation.reduction in pulmonary hy-
pertension and tricuspid regurgiatation alleviate the symptoms
of exertional dyspnea and palpitations. Surgical repair of Ebsteins
anamoly shall be considered if there is evidence of deterioration
such as increase in right heart size, recurrent paradoxical embolic
phenomenon, cyanosis, right heart failure, arrhythmia or aggra-
vation of symptoms.
The surgical options for Ebsteins anamoly include biventricular
reconstruction for most patients. One and a half ventricle repair can
be considered to the failing right ventricle whereas the heart
transplantation is the last resort for patients with severe biven-
tricular dysfunction. But in our patient with atrial septal defect and
mitral stenosis, balloon mitral valvotomy can significantly improve
the patients condition following which surgery can be deferred
until there is indication for the same.
However the limitation in this case is the unwillingness of the
patient for regular follow up and refusal to any intervention other
than medical management due to financial restraints.
Funding
Not applicable.
Declaration of competing interest
No.
CRediT authorship contribution statement
Sitaram Gupta: Conceptualization, Investigation, Writing - re-
view & editing. Ranajit Naik: Writing - original draft, Writing -
review & editing. Mohammad Hafiz: Writing - review & editing.
Nikhil Choudhary: Writing - review & editing, Investigation.
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