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Tetralogy of Fallot was originally described in 1888.1
It is primarily encountered in the pediatric population. It was described
by Étienne-Louis A. Fallot to consist of pulmonary atresia, dextroposed
aorta, interventricular septal defect, and right ventricular hypertrophy.
Approximately 3% of patients survive to age 40 years without surgical intervention.2 Longevity is believed to correlate with greater
pulmonary flow and milder degrees of arterial desaturation. Herein, we describe
a patient whose cardiac abnormality had gone undetected for 50 years until
he came to the eye clinic with visual complaints.
Report of a Case
A 50-year-old Carribean man came to the ophthalmology clinic complaining
of a 5-month history of blurred vision in the right eye. He stated that he
saw an ophthalmologist 5 months earlier when the symptoms started but failed
to return for follow-up owing to financial constraints. Ten days prior to
this visit, the patient reported having similar episodes of blurred vision
in the left eye.
His visual acuity was 20/25 OD and 20/30 OS. The pupils, extraocular
muscles, intraocular pressure readings, and findings of external and slitlamp
examinations were unremarkable. Dilated fundus examination results revealed
superficial hemorrhages in the inferiotemporal quadrant of the retina in the
right eye associated with vessel tortuosity. Disc edema associated with diffuse
retinal hemorrhages and dilated tortuous veins was seen in the left eye. These
findings were consistent with a branch retinal vein occlusion in the right
eye and a central retinal vein occlusion (CRVO) in the left eye.
A workup was initiated and included complete blood cell count, erythrocyte
sedimentation rate, blood pressure evaluation, levels of fasting blood glucose
and glycosylated hemoglobin, prothrombin time, partial thromboplastin time,
fluorescent treponemal antibody level, VDRL, anticardiolipin antibody level,
and a carotid ultrasound.
The blood test results were significant for a hemoglobin level of 19.4
g/dL and a hematocrit of 59.4%. The patient was referred to the hematology
department for evaluation of polycythemia. Subsequently, he was found to have
decreased oxygen saturation by arterial blood gas analysis and a cardiac murmur.
An increased level of erythropoietin was found, raising the suspicion that
the polycytemia was due to an underlying condition causing hypoxemia. On further
evaluation, a transesophageal echocardiogram revealed the classic tetrad of
pulmonic stenosis, ventricular septal defect, dilated overriding aorta, and
severe right ventricular hypertrophy with a right to left shunt, consistent
with tetralogy of Fallot.
The patient had never experienced any symptoms of congenital heart disease
despite his very active life as a merchant marine; at the time of initial
examination, the patient worked as a construction supervisor. On questioning,
he reported the recent onset of exertional dyspnea, which limited his exercise
tolerance to 3 or 4 city blocks of walking. A cardiac catherization was performed
and the patient ultimately underwent surgical repair of his congenital cardiac
defect. The retinal hemorrhages resolved, the vision remained stable, and
the patient continues to receive regular follow-up.
A CRVO is often a result of a combination of local and systemic factors.
The mechanisms that produce the clinical picture of a CRVO can be divided
into (1) conditions that produce a physiologic blockage at the level of the
lamina cribosa and (2) conditions in which hemodynamic factors result in an
obstruction to the blood flow. A combination of these mechanisms may occur
in a patient with a CRVO. Likely causes include atherosclerosis of the adjacent
central retinal artery (causing compression of the vein in the lamina cribosa
region and inducing thrombosis in the lumen of the vein), hypertension, optic
disc edema, glaucoma, optic disc drusen, elevated homocysteine levels, hypercoagulation
states (eg, lymphoma, leukemia, antiphospholipid syndrome, activated protein
C resistance, and polycythemia), vasculitis (eg, sarcoid, syphilis, systemic
lupus erythematosus), drugs (eg, oral contraceptives, diuretics), retrobulbar
external compression (eg, thyroid, orbital tumor), and rare causes, such as
An appropriate workup for a young person who is found to have venous
occlusion on initial examination includes blood pressure readings, fasting
blood glucose level, glycosylated hemoglobin level, complete blood cell count
with differential cell count, platelet count, serum protein electrophoresis,
lipid profile, and rapid plasma reagin/fluorescent treponemal antibody absorption
test. If clinically indicated, this basic workup can be extended to include
antinuclear antibody levels, hemoglobin electrophoresis, cryoglobulins, antiphospholipid
antibody levels, and a chest radiograph. A complete medical evaluation with
attention to the possibility of cardiovascular disease is necessary; the complete
workup is best done in conjunction with an internist. Frequent ophthalmic
examinations are to be performed thereafter.
Although our patient had been asymptomatic for many years, he had recently
developed symptoms caused by his cardiac anomaly. As a result, the decision
was made to perform surgical repair before any further cardiac deterioration
Corresponding author and reprints: Aruoriwo M. Oboh, MD, Department
of Ophthalmology, State University of New York, Downstate Medical Center,
450 Clarkson Ave, Box 58, Brooklyn, NY 11203.
Anderson RH. What is meant by tertalogy of fallot (S, D, I)? Ann Thorac Surg. 1995;59:562-564.
Bertranou EG. Life expectancy without surgery in tetralogy of Fallot. Am J Cardiol. 1978;42:459-465.
Charles C. Central retinal vein occlusion due to hyperviscosity syndrome. J Emerg Med. 2000;18:23-26.
Tasman W, Jaeger E. Duane's Clinical Ophthalmology,
Diseases of the Retina and Glaucoma. Philadelphia, Pa: J.B. Lippincott Co; 1991.
Yoshizumi M, Townsend-Pico W. Essential thrombocytopenia and central
retinal vein occlusion with neovascular glaucoma. Am J Ophthalmol. 1996;121:728-730.
Oboh AM, Lazzaro EC, Inker S. Retinal Venous Occlusion as the Initial Sign of Tetralogy of Fallot. Arch Ophthalmol. 2002;120(4):516–517. doi:
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