Download A case of 75-year-old survivor of unrepaired tetralogy of Fallot and

European Journal of Echocardiography (2008) 9, 167–170
doi:10.1016/j.euje.2007.06.009
A case of 75-year-old survivor of unrepaired tetralogy
of Fallot and quadricuspid aortic valve
Cristina Maria Stanescu† and Kyriaki Branidou*†
Colentina University Hospital Bucharest, Romania
Received 12 March 2007; accepted after revision 20 June 2007; online publish-ahead-of-print 24 August 2007
KEYWORDS
Tetralogy of Fallot;
Quadricuspid aortic valve
In tetralogy of Fallot (TOF), the most common form of cyanotic congenital heart disease, only a few
patients reach adulthood without surgical correction. We present the case of a man with TOF who survived until the age of 75 years without surgical intervention and had a very unusual combination of TOF
and quadricuspid aortic valve (QAV). QAV, complicated by aortic regurgitation, is an uncommon finding
in TOF patients. The hemodynamic consequences for both the right and left ventricles are significant.
This case provides a rare insight into the late outcome of an elderly patient with uncorrected TOF.
Introduction
Tetralogy of Fallot (TOF), the most common cyanotic congenital heart disease, could be accompanied by right-sided
aortic arch, patent ductus arteriosus (PDA) and major aortopulmonary collateral arteries, pulmonary atresia, hypoplasia
or stenosis of pulmonary artery, aortic regurgitation (AR)
and anomalies of the coronary arteries.1,2 The association
with quadricuspid aortic valve (QAV), a rare congenital
cause of AR, readily diagnosed by echocardiography, was
seldom reported. We present the case of a man with TOF
and QAV, who survived until the age of 75 years without surgical intervention.
Case report
A 75-year-old patient was admitted to our hospital with cyanosis, clubbing of the fingers and exertional dyspnea. A diagnosis of a congenital heart disease was made at birth, but
diagnosis of TOF was not made until adolescence. He had a
nearly asymptomatic childhood, describing dyspnea and cyanosis only at big effort, without cyanotic spells. He became
symptomatic in his 50s, with progressive dyspnea on effort
and cyanosis. He was first assessed in our hospital at 70
years, when he was admitted for aggravated chronic heart
failure due to new onset atrial fibrillation.
* Corresponding author. Maior Alexandru Campeanu nr 66, Bloc 37, sc. A,
ap.12, Bucharest, Romania. Tel: þ40 722885908.
E-mail address: [email protected]
†
C. M. Stanescu and K. Branidou contributed equally to this article and thus
share first authorship.
At presentation, he was alert but appeared fatigued and
cachectic. He had mild kyphosis, pectus carinatum, central
cyanosis and clubbing of the fingers and toes. The pulse
was irregular at 77 beats per minute, and the respiratory
rate was 22 breaths per minute, with increased respiratory
effort. The blood pressure was 100/60 mm Hg. The oxygen
saturation was 88% while the patient was breathing 2 L of
oxygen with the use of a nasal cannula. The partial pressure
of oxygen in arterial blood (PaO2) level was 53 mmHg and
the partial pressure of carbon dioxide in arterial blood
(PaCO2) level was 30 mmHg. A right ventricular (RV)
impulse and systolic thrill were palpable at the left sternal
border. An early systolic ejection sound was heard on the
same region. The first and second heart sounds were soft.
He had an ejection systolic murmur in the pulmonary area
and a diastolic regurgitant murmur on the left sternal
border.
An electrocardiogram showed atrial fibrillation, right axis
deviation, biventricular hypertrophy and incomplete right
bundle branch block with QRS duration of 100 ms.
The chest radiography showed a prominent RV with concavity in the main pulmonary artery area and a lifted
apex, (so-called boot-shaped heart) with diminished pulmonary vascular markings. (Figure 1)
An echocardiography revealed a large malaligned ventricular septal defect (VSD) of 2.2 cm, which extended from
the membranous septum, beneath the tricuspid valve into
the outlet septum, with about 50% ascending aorta overriding the interventricular septum. There was an infundibular
obstruction with an RV outflow tract gradient of 70 mmHg,
RV hypertrophy (12 mm) and dilation (50 mm) with impaired
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168
C.M. Stanescu and K. Branidou
Figure 3 Parasternal short-axis echocardiographic view, showing
the four aortic cusps.
Figure 1 Chest radiograph showing a prominent RV, concavity in
the main pulmonary artery area and a lifted apex with diminished
pulmonary vascular markings. MPA, main pulmonary artery; RV,
right ventricle.
Figure 4 Parasternal long-axis echocardiogram with color flow
Doppler imaging, showing severe aortic regurgitation, with the
regurgitant jet directed into the right ventricle. IVS, interventricular septum; RV, right ventricle; AO, ascending aorta; AR, aortic
regurgitation.
be discharged from the hospital one week after his admission. He refused any surgical treatment and any invasive
procedure because of religious beliefs.
Figure 2 Parasternal long-axis echocardiographic view, showing
ascending aorta overriding the interventricular septum. LV, left ventricle; LA, left atrium; IVS, interventricular septum; RV, right ventricle; AO, ascending aorta.
systolic function. (Figure 2). The right atrium was dilated
(65 mm) and a moderate–severe tricuspid regurgitation
was present. The ascending aorta was dilated (48 mm).
The aortic valve was quadricuspid, with a cross shape in diastole, with one large, one small and two intermediate cusps,
and severe AR with the regurgitant jet directed into the RV
was present. (Figure 3 and 4). The left atrium was dilated
(50 mm) and the left ventricle (LV) was of normal dimensions, but with mildly impaired systolic function with an estimated ejection fraction of 45%. The shunt through the VSD
had a low velocity and it was bidirectional.
The magnetic resonance imaging (MRI) revealed significant RV outflow stenosis with a diameter of 0.6 cm,
dilated ascending aorta and confirmed the presence of
severe AR with the jet directed toward the RV.
The patient was treated with furosemide, digoxin, spironolactone, and acenocoumarol and he was well enough to
Discussion
The adult patients with uncorrected TOF have nowadays
become a rarity, with only a few patients with TOF surviving
into adulthood without operation. In the literature, several
conditions are related to longevity in these patients: hypoplastic pulmonary artery with moderately slow development
of subpulmonary obstruction,3,4 LV hypertrophy5,6 and extracardiac shunts, including PDA4,7 or systemic to pulmonary
artery shunting via internal mammaries.8
The patient under discussion had a relatively mild stenosis
of the RV outflow tract, with a predominantly left to right
shunt through the VSD at rest, explaining why cyanosis in
his childhood appeared only during effort. The echocardiography and the MRI examination failed to demonstrate the
presence of PDA. The presence of collaterals, initially suspected because of the increased amplitude R wave in left
precordial derivations,9 was not demonstrated at MRI.
AR was reported in several series in 2–6 % of TOF
patients.2,10 Prolapse of the right coronary cusp was the
main cause of AR in one of the studies.2 This mechanism is
less often encountered in TOF than in high isolated VSD,
A 75-year old survivor of unrepaired TOF and QAV
due to different hemodynamics; in high VSD, the left to right
shunt may damage the aortic cusps, whilst in TOF the output
of both ventricles is ejected directly into the aorta, with no
alteration of aortic valve function.10 Other reported causes
of AR were a deformed aortic valve secondary to endocarditis and severe dilation of the aortic annulus.2 Aortic root
dilation was frequently reported in TOF, especially in
patients with pulmonary atresia and was attributed to
increased blood flow from both ventricles to the overriding
aorta.11
More recently, intrinsic histological abnormalities of the
ascending aorta are thought to contribute to progressive
aortic root dilation and AR.12 Additionally, malformations
of the aortic valve can also lead to AR, but their association
with TOF is rarely encountered. A few cases of bicuspid
aortic valve in TOF patients were reported.10,13
Our case is a very unusual combination of TOF and quadricuspid aortic valve QAV. QAV is a rare congenital malformation often associated with other cardiac disorders, such
as PDA, VSD, pulmonary stenosis, mitral valve malformation,
hypertrophic cardiomyopathy, coronary abnormalities and
congenital complete heart block.14,15 In a review performed
in 2004, a total of 186 published cases of QAV were found.16
To the best of our knowledge, there are, so far, only two
reported cases of QAV associated with TOF.17,18 Quadricuspid
semilunar valves have been classified by Hurwitz and
Roberts into seven types, according to the relative size of
the four cusps.19 It was shown that the QAV is often incompetent; normally functioning valves have been found in only
16 % of cases.16 The findings reported in the literature
suggest that fibrous thickening of valves, due to the
unequal mechanical stress distribution on the valve, may
lead to progressive AR.20,21 QAV can be easily diagnosed by
two-dimensional echocardiography, because of the typical
aspect of the four cusps in both diastole and systole. Our
patient has a type four QAV, according to Hurwitz’s classification, represented by one large, one small and two intermediate cusps, leading, owing to their unequal size, to
severe AR. The incompetent aortic valve constituted a
hemodynamic burden for the RV, contributing to its dilation
due to longstanding volume overload, as the regurgitant jet
was directed into the RV through the nonrestrictive VSD.
Substantial tricuspid regurgitation occurred because of RV
dilation, leading to further dilation of the right chambers.
AR, if acute, may have devastating effects on a compromised RV, from longstanding pressure overload, resulting in
acute heart failure.22 In this particular patient, the AR
caused by congenital QAV was well tolerated, as the RV
had time to compensate for the chronic volume load in a
context of mildly infundibular stenosis that did not markedly
increase the afterload. Additionally, there is a strong possibility that the presence of chronic AR was somehow beneficial, raising the proportion of oxygenated blood in the
RV. As a consequence, the right to left shunt provided the
LV with partly oxygenated blood, resulting in a lower than
expected degree of arterial hypoxemia and cyanosis.
It has been demonstrated that hypoxemia per se may contribute to the worsening of heart failure. Low systemic
oxygen saturation, increased coronary vascular resistance
and increased blood viscosity secondary to polycythemia,
have been considered as contributing factors to abnormal
LV function, by means of repeated episodes of myocardial
hypoxia and subsequent fibrosis.23
169
In our patient, the presumptive lower degree of hypoxemia contributed to the delayed occurrence of myocardial
dysfunction, that appeared late in his 50s and it was worsened subsequently by the atrial fibrillation and probably
by coronary artery disease.
Conclusion
In this particular case there are multivariable factors that
affected the patient’s hemodynamics and therefore contributed to our patient’s prolonged survival; pulmonary blood
flow was neither severely decreased, as the RV outflow
tract obstruction was only moderate, nor raised enough to
significantly increase pulmonary vascular resistance, in
spite of the RV volume overload caused by the AR. Such a
fine hemodynamic balance is clearly rare. Additionally, the
raised proportion of oxygenated blood in the RV, due to
the AR, had contributed to reducing cyanosis and hypoxic
damage to the myocardium, which enabled prolonged
survival.
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