Journal of Medical Case Reports BioMed Central

Case report Open Access

Tetralogy of Fallot with rheumatic mitral stenosis: A case report
Cheemalapati Sai Krishna*1, Gangireddy Venkateswara Reddy†2,
Mohan Debta†3 and Nanda Kishore Panigrahi†3

Address: 1Department of Cardio-Thoracic Surgery, Apollo Heart Institute, Visakhapatnam, Andhra Pradesh, India, 2Department of Cardiology,
King George Hospital, Visakhapatnam, Andhra Pradesh, India and 3Department of Cardiology, Apollo Heart Institute, Visakhapatnam, Andhra
Pradesh, India
Email: Cheemalapati Sai Krishna* - csaikrishna@yahoo.com; Gangireddy Venkateswara Reddy - drgvreddy57@dataone.in;
Mohan Debta - dr_mohan_debta@yahoo.com; Nanda Kishore Panigrahi - nandakishorepanigrahi@yahoo.co.in
* Corresponding author †Equal contributors

Published: 28 April 2008 Received: 5 September 2007

Accepted: 28 April 2008
Journal of Medical Case Reports 2008, 2:127 doi:10.1186/1752-1947-2-127
This article is available from: http://www.jmedicalcasereports.com/content/2/1/127
© 2008 Krishna et al; licensee BioMed Central Ltd.
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/2.0),
which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

Abstract
Introduction: Rheumatic and congenital heart diseases account for the majority of hospital
admissions for cardiac patients in India. Tetralogy of Fallot is the most common congenital heart
disease with survival to adulthood. Infective endocarditis accounts for 4% of admissions to a
specialized unit for adult patients with a congenital heart lesion. This report is unique in that a
severe stenotic lesion of the mitral valve, probably of rheumatic aetiology, was noted in an adult
male with Tetralogy of Fallot.
Case presentation: An unusual association of rheumatic mitral stenosis in an adult Indian male
patient aged 35 years with Tetralogy of Fallot and subacute bacterial endocarditis of the aortic valve
is presented.
Conclusion: In this case report the diagnostic implications, hemodynamic and therapeutic
consequences of mitral stenosis in Tetralogy of Fallot are discussed. In addition, the morbidity and
mortality of infective endocarditis in adult patients with congenital heart disease are summarized.
The risk of a coincident rheumatic process in patients with congenital heart disease is highlighted
and the need for careful attention to this possibility during primary and follow-up evaluation of such
patients emphasized.

Introduction TF remains the most common type of congenital heart

Rheumatic and congenital heart diseases account for lesion seen beyond infancy and childhood with about 5%
about 65% of total cardiac admissions in India and the of patients surviving to the age of 40 years. Aortic regurgi-
prevalence rate of rheumatic heart disease is reported as tation may occur in affected patients in or beyond the sec-
0.5 to 0.67 per 1000 [1]. Coexistent rheumatic disease in ond decade of life, and this may predispose to infective
patients with congenital heart defects is known to occur endocarditis [4]. Mitral inflow obstruction in congenital
[2,3]. We discuss an interesting association of rheumatic heart disease may be due to a supramitral ring, congenital
mitral stenosis in an adult with tetralogy of Fallot (TF) or acquired valvular stenosis and parachute mitral valve,
complicated by infective endocarditis of the aortic valve. all of which result in an elevated transmitral gradient – the
hemodynamic hallmark of mitral stenosis [5]. In TF, an

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increasing severity of mitral stenosis potentiates the pas- murmur with pre-systolic accentuation at the apex. The
sive pulmonary venous congestion which may aggravate lungs were clear. Abdominal examination revealed a ten-
the hypoxemia. der enlarged liver. There was no enlarged spleen. Pulse
oximetry showed a room air oxygen saturation of 78%.
Atrial fibrillation is an uncommon rhythm disturbance in Chest X-ray revealed enlarged heart, pulmonary oligemia
TF. However, mitral stenosis may predispose the patient and no evidence of pulmonary venous hypertension. Elec-
to atrial fibrillation, with disastrous hemodynamic conse- trocardiogram revealed sinus rhythm, normal PR interval,
quences. The possibility of left atrial clot formation and right axis deviation, left atrial enlargement and right ven-
embolic stroke may add to central nervous system compli- tricular hypertrophy.
cations such as cerebral thromboses and abscesses that
occur as a result of a widespread tendency to spontaneous An echocardiogram revealed a large malaligned ventricu-
arterial thrombosis secondary to a hypercoagulable state lar septal defect with 60% aortic override. The aortic valve
in adult TF [4]. was trileaflet with a vegetation on the right coronary cusp
(Figure 1). The mitral valve was thickened. Diastolic dom-
The low pulmonary blood flow situation in TF, with a ing of the anterior leaflet, fixed posterior mitral leaflet
consequent decrease in the left atrial flow, tends to result with paradoxical motion and two well-formed papillary
in a small left atrium and left ventricle. Mitral stenosis muscles were noted (Figure 2). There was no aortic steno-
results in a further reduction of the left ventricular end sis and grade II aortic regurgitation was noted in addition
diastolic volume, which is an important risk factor for to severe infundibular and annular stenosis with conflu-
early death after repair [4]. Myocardial damage secondary ent branch pulmonary arteries (Figure 3A). Non calcific
to chronic pre-operative hypoxia may adversely influence severe mitral stenosis with commissural fusion and thick-
postoperative left ventricular function in older patients. ening of the sub-valvular apparatus was noted. The mitral
Valvular calcification and sub-valvular fusion may pre- valve area was 1.1 cm2. There was no mitral regurgitation.
clude chordal preservation during surgical intervention, The peak and mean gradients across the valve were 36 and
adding to morbidity and mortality following surgical 21 mmHg respectively (Figure 3B) and the echocardio-
repair. graphic mitral valve score was 6/16. Blood cultures

Infective endocarditis accounts for 4% of admissions to a

specialized unit for adult patients with a congenital heart
lesion. Predisposing events identified include a dental
procedure, systemic sepsis or prior cardiac surgery [6]. The
aortic and pulmonary valves in TF are prone to infective
endocarditis. The mitral valve may be an additional site
for endocarditis in TF with mitral stenosis. The morbidity
of infective endocarditis in this subset of patients includes
recurrence (7.7%), systemic septic embolization (30.8%)
and a high re-operation rate during or after the episode
(67.3%). Hospital mortality is reported to be around
1.9% and late mortality 7.7% [7].

Case presentation
A male aged 35 years with a history of cyanosis from early
childhood was referred for evaluation of low grade fever
and worsening breathlessness on exertion. There was no
history of a recent dental or surgical procedure. General
physical examination revealed a moderately nourished
individual with central cyanosis and grade IV clubbing.
The jugular venous pulse was elevated. The pulse was reg-
ular with a rate of 100 beats per minute and a collapsing
character. The blood pressure was 120/60 mmHg. On pre- Figuredefect,
coronary1 cusp
Parasternal
septal long
aortic
(Vaxis
rcc) override
and thickened
view showing mitral
(Ao), the valveon
vegetation
malaligned(M)
the
ventricular
right
cordial examination the first heart sound was palpable. Parasternal long axis view showing the malaligned
Auscultation revealed a loud first heart sound, single sec- ventricular septal defect, aortic override (Ao), vege-
ond heart sound and an apical opening snap. Additional tation on the right coronary cusp (Vrcc) and thick-
findings included ejection systolic and early diastolic ened mitral valve (M).
murmurs at the left sternal border and a mid-diastolic

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cles
Parasternal
fixed(1
tum;
FigureLA,
posterior
and
2left2),
long
atrium
doming
mitral
axis view
leaflet
of the
demonstrating
(pml);
anterior
IVS,mitral
interventricular
theleaflet
papillary
(damlmus-
)sep-
and
Parasternal long axis view demonstrating the papil-
lary muscles (1 and 2), doming of the anterior mitral
leaflet (daml) and fixed posterior mitral leaflet (pml);
IVS, interventricular septum; LA, left atrium.

revealed Streptococcus viridans as the infecting organism.

The serum antistreptolysin O titers were within reference
range, C-reactive protein was positive and erythrocyte sed-
imentation rate was elevated.

A final diagnosis of TF, subacute bacterial endocarditis of

the aortic valve and severe mitral stenosis, probably of
rheumatic etiology, was considered. Endocarditis with
aortic regurgitation added to the hemodynamic burden
and the patient succumbed to infective complications
during the course of stabilization.

Conclusion
Although there was no definitive evidence of prior strep-
tococcal infection, the clinical profile and the echocardio- Figuremorphology
RVOT 3 and Doppler study of the mitral valve
graphic findings suggest an acquired rheumatic etiology RVOT morphology and Doppler study of the mitral
in our patient. Congenital mitral stenosis can present with valve. (A) Short axis image demonstrating the subaortic ven-
tricular septal defect (arrow), hypoplastic right ventricular
some leaflet thickening and commissural fusion; how-
outflow tract (RVOT), main pulmonary artery (M) with con-
ever, its association with TF is extremely rare [8]. Fifty per- fluent branch pulmonary arteries. L, left pulmonary artery;
cent of symptomatic infants with isolated congenital RA, right atrium; LA, left atrium. (B) Image demonstrating
mitral stenosis are known to die within the first six Doppler gradients across the mitral valve.
months of life [5]. The late survival of our patient in the
presence of a major associated intracardiac lesion makes
congenital pathology unlikely. rent subclinical or unsuspected active carditis leading to
late mitral stenosis may occur in the natural history. His-
About 50% of patients with rheumatic heart disease may tologic evidence of active rheumatic carditis (noted in up
not have a prior history of rheumatic fever [9] and recur- to 40% of patients with unexplained heart failure), raised

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antistreptolysin O titers and absence of other features of

carditis support this contention [10]. These arguments
favor a rheumatic etiology for the mitral stenosis in our
case.

This report draws attention to an interesting association of

rheumatic mitral stenosis in TF and highlights the possi-
bility of a coexistent rheumatic lesion in patients with
congenital heart disease.

Competing interests
The authors declare that they have no competing interests.

Authors' contributions
GVR, NKP and MD carried out the diagnostic evaluation
and stabilization. CSK was responsible for drafting the
manuscript, its revision and preparation of illustrations.
Final edits were carried out by NKP. All the authors read
and approved the final manuscript.

Consent
Written informed consent was obtained from the patient's
next-of-kin for publication of this case report and the
accompanying images. A copy of the written consent is
available for review by the Editor-in-Chief of this journal.

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