1

CASE REPORT

Unrepaired Tetralogy of Fallot in an 85-Year-Old Man chd_642 1..4

Riccardo Gorla, MD, 1Andrea Macchi, MD, Irene Franzoni, MD, Isabella Rosa, MD,
2
Fabio Buzzetti, MD, Anna G. Pavon, MD, and Alberto Margonato, MD
Department of Cardiology, IRCCS San Raffaele Hospital, Milan, Italy

ABSTRACT

Tetralogy of Fallot is the most common cyanotic congenital heart defect and accounts for about 5% of all congenital
cardiopathies. The definitive treatment modality for tetralogy of Fallot is reparative surgery, which is recommended
to be performed by the time of diagnosis. Without surgical repair, most patients would die during their childhood.
In the past, survival data indicated that 66% of persons with tetralogy of Fallot not surgically treated lived until the
age of 1, 49% lived until the age of 3, and 24% lived until the age of 10. We now present a rare case of a man with
unrepaired tetralogy of Fallot who survived until the age of 85. He presented to our emergency room for dyspnea
and palpitations due to a new-onset high-frequency atrial fibrillation and acute heart failure; transthoracic echocar-
diography showed the presence of tetralogy of Fallot. By consulting the scientific literature, we can say that this is
the second patient who survived more than 80 years without surgical intervention.

Key Words. Tetralogy of Fallot; Congenital Heart Disease; Tetralogy of Fallot Surgery

Introduction the systemic vascular resistance, while the RVOT

T etralogy of Fallot is the most common cyan-
otic congenital heart defect and accounts for
about 5% of all congenital cardiopathies. It occurs
in approximately 400 per million live births.1
Firstly described by the physician Etienne-Louise
Arthur Fallot, it is characterized by the coexistence
of ventricular septal defect, overriding aorta,
obstruction of right ventricular outflow tract
(RVOT), and right ventricular hypertrophy.2,3
The etiology is multifactorial, but reported asso-
ciations include untreated maternal diabetes,
phenylketonuria, intake of retinoic acid, as well
as chromosomal anomalies (trisomies 21, 18 and
microdeletions of chromosome 22). The risk of
recurrence in families is 3%.4
The pathophysiology is primarily dependent
upon the severity of RVOT obstruction leading to
right-to-left shunting which is dependent upon
1 room for worsening dyspnea, asthenia, and sys-
Department of Cardiology, AO Ospedale di Circolo,
Busto Arsizio, Italy (present address).
2
Department of Cardiology 2, AO Ospedale di Circolo
Fondazione Macchi, Varese, Italy (present address).
© 2012 Wiley Periodicals, Inc.
obstruction is usually fixed.2
The definitive treatment modality for tetralogy
of Fallot is reparative surgery which is recom-
mended to be performed by the time of diagnosis.
Without surgical repair, most patients would die
during their childhood. In the past, survival data
indicated that 66% of persons with tetralogy of
Fallot not surgically treated lived until the age of
1, 49% lived until the age of 3, and 24% lived until
the age of 10.5
We now present a rare case of a man with unre-
paired tetralogy of Fallot who survived until the
age of 85. By consulting the scientific literature,
we can say that this is the second patient who
survived more than 80 years without surgical
intervention.
Case Summary
An 85-year-old man presented to our emergency
temic hypotension. Physical examination was
notable for a III\IV systolic ejection murmur
and tachyarrhythmia, minimal cyanosis with no
Congenit Heart Dis. 2012;••:••–••
2 Gorla et al.

clubbing at the extremities, and severe peripheral

edema; auscultation of chest showed widespread
crackles.
Electrocardiography (ECG) showed high fre-
quency atrial fibrillation with a cardiac rate of
130 bpm, rightward axis with right bundle branch
block, and right ventricular hypertrophy; the
patient had respiratory acidosis (pH 7.2) and his
saturation in air was 80%; moreover, he was oligu-
ric with rising serum creatinine (2.5 mg/dL).
He had also polycythemia (red blood cells
6.22 ¥ 103, hemoglobin 18.6 g/dL) with a high
hematocrit (58%).
The patient related that he had been diagnosed
with tetralogy of Fallot when he was 19 years old
due to a systolic ejection murmur that was found Figure 1. Parasternal long-axis view showing the overrid-
during the visit for compulsory military service. ing aorta and subaortic ventricular septal defect.
ECG showed a pattern of right ventricular hyper-
trophy. Moreover, he underwent a chest x-ray that
revealed right ventricular dilatation and a reduced
pulmonary perfusion. Eventually, a right heart
catheterization was performed which confirmed
the diagnosis of tetralogy of Fallot. A surgical indi-
cation was made, but the patient decided to refuse
it as he was completely asymptomatic and con-
cerned about the risk of surgical intervention.
When questioned on this, the patient admitted
that he had always been asymptomatic, although
he had carried out a sedentary life. The only dis-
order he had suffered from was the beginning of
atrial fibrillation about 5 years earlier. The patient
was treated with furosemide, ethacrynic acid,
bicarbonate, and oxygen with a slow improvement
in his condition. Figure 2. Apical four-chamber view showing the diameter
Transthoracic echocardiography showed an of ventricular septal defect, severely dilated atria, and
overriding aorta (Figure 1) and a large membra- severe right ventricular hypertrophy.
nous subaortic ventricular septal defect (maximum
diameter of 1.48 cm) (Figure 2) with a bidirec-
tional shunt and paradoxical septal motion; left therapy with beta-blocker and digoxin was set with
ventricle was of normal dimension; the ejection progressive reduction of cardiac rate to approxi-
fraction was 50% with mild aortic regurgitation, mately 90 bpm.
severe mitral regurgitation, and moderate tricus- However, the patient conditions had a sudden
pid regurgitation (tricuspid regurgitation velocity worsening so a treatment with high doses of intra-
was 410 cm/s). venous furosemide and ethacrynic acid was set
The severe mitral regurgitation was due to with progressive clinical improvement.
annular enlargement and dysfunction (type 1) and So, since the patient had severe biventricular
to fibrotic degeneration of mitral leaflets (type 3a). heart failure with poor hemodynamic compensa-
The patient had severe right ventricular hyper- tion, an admission to a rehabilitation center was
trophy with moderate systolic dysfunction (Tricus- proposed, but he refused it and decided to be dis-
pid Annular Plain Systolic Excursion was 1,4 cm), charged against medical advice.
moderate to severe infundibular stenosis (mean At discharge, he had a blood saturation in air
gradient 30 mm Hg, peak 60 mm Hg), and dilated of 84%, blood pressure was 90/60 mm Hg, and
atria (left atrium diastolic diameter was 58 mm, heart rate was 80 bpm. Home oxygen therapy was
right atrium area was 42 cmq). So a rate-control prescribed.
Congenit Heart Dis. 2012;••:••–••
Unrepaired Tetralogy of Fallot
Two months later, the general practitioner who
was treating the patient reported to us a slow but
gradual improvement in his condition.
Discussion
Tetralogy of Fallot is the most common cyanotic
congenital heart defect. This condition was ini-
tially thought to be untreatable until surgeon
Alfred Blalock developed a palliative surgical pro-
cedure, which involved forming an anastomosis
between the subclavian artery and pulmonary
artery. The first total repair of tetralogy of Fallot
was done in 1954 on an 11-year-old boy. However,
total repair on infants had its success only in 1981,
with a comparatively low mortality rate. Surgery is
now often carried out in infants at 1 year of age or
younger with less than 5% perioperative mortality.
Untreated, tetralogy of Fallot results in right ven-
tricular hypertrophy and, after a few years, this
condition leads to right ventricular heart failure,
which rapidly becomes biventricular.6 So, at diag-
nosis, most patients will undergo surgical correc-
tion in their childhood.
However, there is a minority of patients which
survive without treatment. Rarely, the clinician
may encounter an adult with an unrepaired tetral-
ogy of Fallot.
With surgical correction, the very long-term
outcome is excellent, and most patients lead active
and productive lives, while life expectancy without
surgical treatment appears to be really poor.5
The natural history of unrepaired tetralogy of
Fallot is variable and, like its presentation, it
depends on the severity of RVOT obstruction.
Twenty-five percent of patients with severe
obstruction not treated surgically die within the
first year, 40% within 3 years, 70% within 10
years, and 95% within 40 years. Major causes of
death in surgically untreated patients include
hypoxic spells (62%), cerebrovascular accidents
(17%), and brain abscesses (13%).7
Only few case reports have been published
documenting late survival without surgery, and
this is usually due to less severe RVOT obstruction
and to right-to-left shunting which becomes
evident upon increased exertion.8 Alonso et al.
reported the case of an 86-year-old man that
remained fairly asymptomatic for much of his life.
He presented to the hospital at the age of 86 with
a new-onset high-frequency atrial fibrillation and
non-ST-segment elevation myocardial infarction.9
Thomas et al. reported the case of a 77-year-old
3
man who remained asymptomatic until death,
and the diagnosis of congenital defect was done
postmortem.10
In the case of our patient, survival until 85 was
due to favorable anatomy of the tetralogy, espe-
cially to the moderate to severe RVOT obstruc-
tion that slowed pulmonary hypertension
development.
Moreover, our patient developed severe mitral
insufficiency, as a consequence of both an intrinsic
mitral leaflet degeneration and a severe left atrium
dilatation involving mitral annulus. The valve
disease associated to high-frequency atrial fibrilla-
tion caused pulmonary edema, due to a sudden rise
in postcapillary pulmonary pressure.
The patient was elderly and his clinical situation
very compromised, so he decided to refuse any
further investigation and treatment. However, in
this case, it would have been useful to perform
cardiac computed tomography or magnetic reso-
nance, in order to clarify better the anatomy
of the disease. Moreover, right heart catheteriza-
tion could have been performed to evaluate pul-
monary vascular resistance. Elderly patients with
tetralogy of Fallot are said to have a higher opera-
tive risk than younger ones because of fragility of
their myocardium, bleeding from pulmonary col-
lateral circulation, and other complications such as
brain abscess and endocarditis. Other clinical
reports have been published documenting patients
who underwent surgical treatment in their adult-
hood such as Itoh et al.11 who described the
surgery of a 52-year-old male or Morton et al.12
who reported the case of a 58-year-old man who
underwent surgical treatment and lived a healthy
life until the age of 79.
Given the elderly age of our patient, medical
therapy was the only option we considered.
Conclusions
The literature data on tetralogy of Fallot showed a
life expectancy that is less than 3% at 40 years
without surgical treatment.13 This suggests how
our patient is unique since he has been able to live
fairly asymptomatic for most of his life and to
survive until 85 years without surgical treatment.
Moreover, his first clinical presentation was
atypical, with pulmonary edema due to severe
mitral regurgitation and atrial fibrillation.
The literature suggests the possibility of late
surgical correction in adult but younger patients
with a higher perioperative risk, in order to
Congenit Heart Dis. 2012;••:••–••
4 Gorla et al.
improve morbidity and mortality. If not possible,
medical therapy should be carried forward to
improve quality of life.
Corresponding Author: Riccardo Gorla, MD,
Department of Cardiology, IRCCS San Raffaele Hos-
pital, via Olgettina 60, 20132 Milan, Italy. Tel: (+39)
02-26437752; Fax: (+39) 02-93291315; E-mail:
r.gorla@hotmail.it
Conflict of interest: None.
Accepted in final form: January 19, 2012.
References
1 Child JS. Fallot’s tetralogy and pregnancy: prognos-
tication and prophesy. J Am Coll Cardiol. 2004;44:
181–183.
2 Duro RP, Moura C, Leite-Moreira A. Anato-
mophysiologic basis of tetralogy of Fallot and its
clinical implications. Rev Port Cardiol. 2010;29:591–
630.
3 Bailliard F, Anderson RH. Tetralogy of Fallot.
Orphanet J Rare Dis. 2009;4:2.
4 Momma K, Kondo C, Matsuoka R. Tetralogy of
Fallot with pulmonary atresia associated with chro-
mosome 22q11 deletion. J Am Coll Cardiol. 1996;
27:198–202.
Congenit Heart Dis. 2012;••:••–••
5 Bertranou EG, Blackstone EH, Hazelrig JB, Turner
ME, Kirklin JW. Life expectancy without surgery in
tetralogy of Fallot. Am J Cardiol. 1978;42:458–466.
6 Cobanoglu A, Schultz JM. Total correction of
tetralogy of Fallot in the first year of life: late results.
Ann Thorac Surg. 2002;74:133–138.
7 Loh TF, Ang YH, Wong YK, Tan HY. Fallot’s
tetralogy natural history. Singapore Med J. 1973;
14:169–171.
8 Makaryus AN, Aronov I, Diamond J, Park CH,
Rosen SE, Stephen B. Survival to the age of 52 years
in a man with unrepaired tetralogy of Fallot.
Echocardiography. 2004;21:631–637.
9 Alonso A, Downey BC, Kuvin JT. Uncorrected
tetralogy of Fallot in an 86-year-old patient. Am J
Geriatr Cardiol. 2007;16:38–41.
10 Thomas SH, Bass P, Pambakian H, Marigold JH.
Cyanotic tetralogy of Fallot in a 77 year old man.
Postgrad Med J. 1987;63:361–362.
11 Itoh A, Okubo S, Nakanishi N, et al. A successfully
operated case of tetralogy of Fallot with marked left
ventricular dysfunction in adult. Kokyu To Junkan.
1990;38:909–912.
12 Morton BC, Morch JE, Williams WG. Primary
repair of Fallot’s tetralogy in an older adult: a
20-year follow-up. Can J Cardiol. 1996;7:149–155.
13 Hokanson JS, Moller JH. Adults with tetralogy of
Fallot: long term follow-up. Cardiol Rev. 1999;7:
149–155.