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Clinicopathologic Reports, Case Reports, and Small Case Series
April 2002

Retinal Venous Occlusion as the Initial Sign of Tetralogy of Fallot

Arch Ophthalmol. 2002;120(4):516-517. doi:

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.

Comment

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 migraine.

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 could ensue.

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.

SELECTED BIBLIOGRAPHY

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.

References
1.
Phadke  ARPhadke  SA Acyanotic Fallot's tetralogy with survival to the age of 70 years. Indian Heart J. 1977;2946- 49
2.
Chin  TBashour  S Tetralogy of Fallot in the elderly. Clin Cardiol. 1984;7453- 456Article
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