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Case Report
Tetralogy of Fallot with Quadricuspid Aortic Valve
Monika Maheshwari*, Chandra Prakash Tanwar **, SR Mittal***
Abstract
We describe herein a 54 year female who had tetralogy of Fallot with quadricuspid aortic valve. This combination
is very uncommon. Hence it was worth reporting this interesting case.
T
Introduction
waves and sudden transition of prominent ‘R’ wave in lead V1
to dominant ‘S’ wave in lead V2 (Figure 1). Finally transthoracic
echocardiography was done which revealed non-restrictive
ventricular septal defect (VSD) of 4cm size, overriding aorta to
the right and anteriorly (>50%), right ventricular hypertrophy
(12mm) with infundibular right ventricular outflow obstruction
(gradient-66mmHg) (Figure 2). An additional characteristic
echocardiographic feature was the presence of a quadricuspid
aortic valve in short axis parasternal view having a cross shape
in diastole with one large, one small and two intermediate
cusps and severe aortic regurgitation jet directed into the right
ventricle (RV) (Figure 3). Patient was advised surgery but he
refused and was treated medically with diuretics, digoxin and
was discharged after 1 week with symptomatic improvement.
etralogy of Fallot (TOF) is the most common cyanotic
congenital heart disease, usually accompanied by right sided
aortic arch, patent ductus arteriosus, pulmonary atresia, aortic
regurgitation, persistent left superior venacava and anomalies
of the coronary arteries.1 The association with quadricuspid
aortic valve (QAV) is seldom reported. We present here a case
of TOF with QAV.
Case Report
A 54 year female presented in emergency department with
complains of breathlessness on exertion and cyanosis. On
examination her pulse was 88/mt regular, blood pressure - 100/56
mmHg and respiratory rate - 22/mt Central and peripheral
cyanosis with bilateral clubbing (grade III) was evident on
fingers and toes. However ‘a’ wave in jugular venous pulse
was not prominent. Apex beat was subxiphoid in location and
retractile formed by right ventricle. There was a palpable thrill
in left third and fourth intercostal space parasternally. On
auscultation S­1 was normal whereas S2 was single. An ejection
click was audible in right second intercostal space. There was
an ejection systolic murmur in pulmonary area and a diastolic
murmur of grade 4/6 at Erb’s area. Hematologic findings with
blood biochemistry, renal and liver function tests were within
normal limits. On measurement of arterial partial oxygen
pressure oxygen saturation was 88%. Chest skiagram revealed
normal sized, ‘boot shaped’ heart with pulmonary oligaemia.
Electrocardiogram revealed right axis deviation with peaked ‘P’
Discussion
QAV is a rare congenital anomaly with overall incidence of
0.01%.2 It is often associated with other cardiac disorders such
as patent ductus arteriosus, VSD, pulmonary and subaortic
stenosis, coronary anomalies hypertrophic cardiomyopathy3 and
congenital complete heart block.4 To the best of our knowledge
there are, so far only three reported cases of QAV with TOF 5-7
Hurwitz and Robert classified QAV into seven different types and
named them A to G.Type ‘A’ having all four equal aortic cusps
is the commonest and type ‘E’ with three equal and one large
cusp is the rarest. Our patient has a type ‘D’ QAV, represented
by one large, one small and two intermediate cusps; leading to
severe aortic regurgitation (AR) owing to their unequal size. The
findings reported in the literature suggest that fibrous thickening
of valves, along with unequal distribution of mechanical stress
Fig. 1 : Electrocardiogram showing RAD, p-pulmonale and sudden
transition of prominent ‘R’ wave in lead V1 to dominant ‘S’ wave in
lead V2
1 Year Resident, Department of Cardiology, **1st Year Resident,
Department of Medicine, ***Ex. Senior Professor and HOD–DM
(Cardio), Department of Cardiology, Jawahar Lal Nehru Medical
College, Ajmer
Received: 27.05.2011; Accepted: 11.06.2011
* st
© JAPI • february 2013 • VOL. 61 Fig. 2 : Transthoracic echocardiogram (PLAX view) showing large
non-restrictive VSD with over-riding aorta
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© JAPI • february 2013 • VOL. 61
cyanosis and hypoxic damage to the myocardium, which enabled
prolonged survival in our patient.
References
Fig. 3 : Transthoracic echocardiogram (SAX view) showing cross
shaped quadricuspid aortic valve
on the valve, may lead to progressive AR. In our patient the
incompetent aortic valve constituted hemodynamic burden for
the RV, as the regurgitant jet was directed into the RV through
the nonrestrictive VSD, contributing to it’s dilation due to
longstanding volume overload. There is a strong possibility that
the presence of chronic AR was somehow beneficial, by raising
the proportion of oxygenated blood in the RV. As a consequence,
the right to left shunt provided the left ventricle with partly
oxygenated blood, resulting in a lower than expected degree of
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© JAPI • february 2013 • VOL. 61