Journal of Postgraduate Medicine Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India ISSN: 0022-3859 EISSN: 0972-2823 Vol. 47, Num. 3, 2001, pp. 194-195

Journal of Postgraduate Medicine, Vol. 47, Issue 3, 2001 pp. 194-195

Fallot’s Tetralogy Presenting With Variceal Bleed

Kejariwal D, Roy S, Sarkar N, Bhattacharya M

Department of Medicine, Institute of Post Graduate Medical Education and Research and SSKM Hospitals, Calcutta, India.

Code Number: jp01055

Abstract

The erythrocytosis of Fallot’s tetralogy may lead to spontaneous thrombosis at any site, but splenic vein thrombosis and variceal bleed is rarely a presentation of Fallot’s tetralogy. A case of a 48 years old female with undiagnosed Fallot’s tetralogy, presenting with variceal bleed due to splenic vein thrombosis, is reported. It is also interesting to note that the patient survived till this age without any medical or surgical treatment.

Key Words: Fallot’s tetralogy, Splenic vein thrombosis, Variceal bleed.

For un-operated patients with Fallot’s tetralogy, only 3% are alive at age 40 years.(1,2) The erythrocytosis of Fallot’s tetralogy may lead to spontaneous thrombosis at any site, but splenic vein thrombosis and variceal bleed is rarely a feature of Fallot’s tetralogy.(3) We report a case of a 48-years-old female with Fallot’s tetralogy presenting with variceal bleed due to splenic vein thrombosis.

Case History

A 48-year-old housewife presented to our hospital with the history of two episodes of haematemesis and malena in the last one month. She had shortness of breath on exertion since childhood, which used to get relieved on squatting. She also noticed bluish discoloration of nails, fingertips and lips since childhood. As she grew up, dyspnoea decreased to some extent but she experienced occasional episodes of epistaxis and dizziness. There was history of three stillbirths. There was no history of jaundice in the past, but the patient had received two units of blood following a stillborn baby, 17 years back. No history of usage of oral contraceptive pills. There was no other significant history. Family and personal history was non-contributory.

There was conjunctival congestion, central cyanosis and clubbing of fingers and toes. Her blood pressure was 200/110 mm of Hg. Cardiovascular examination revealed mild cardiomegaly, parasternal lift and a palpable second heart sound. Auscultation revealed loud single second heart sound and a midsystolic murmur were heard at left midsternal border. Abdominal examination revealed moderate splenomegaly. There was no free fluid in the abdomen. Respiratory, neurological and genital systems were unremarkable.

Investigations revealed normal haematology (except haemoglobin which was 24.9 g/dl), renal and liver biochemistry. Echocardiography revealed large ventricular septal defect with 40% overriding of aorta with subpulmonic stenosis along with hypertrophy of right and left ventricular walls. Investigations did not reveal any secondary cause for hypertension. Abdominal ultrasonography showed splenomegaly with hyperechoic mass in splenic vein with collaterals suggestive of splenic vein thrombosis. Serological markers for Hepatitis B and C were negative. Serum amylase was normal. Antinuclear factor was negative and coagulation profile was normal. Upper gastrointestinal endoscopy revealed type II gastric varices. The patient refused any form of therapy.

Discussion

Fallot’s tetralogy is the commonest type of congenital heart disease in cyanotic children after the age of four years. It is also true that this malformation represents the largest proportion of adults with cyanotic congenital heart disease. For unoperated patients with Fallot’s tetralogy of all degrees of severity, 11% are alive at age 20 years, 6% at 30 years and 3% at age 40 years.(1,2) The case presented is exceptional in that the patient with severe cyanotic Fallot’s survived without severe symptoms or surgical treatment and the diagnosis was made by echocardiography at the age of 48 years, when the patient experienced variceal bleed, due to splenic vein thrombosis. Long-standing essential hypertension possibly contributed to prolonged survival by diminishing the right to left shunt and thus reducing cyanosis and hypoxic damage to the myocardium.(4)

A bleeding tendency has been recognised in patients with cyanotic heart disease and has been variously attributed to erythrocytosis, hypoxemia, shortened platelet survival and a number of clotting factor deficiencies. For the most part, the bleeding tendency is mild and mucocutaneous.(5) There is a seeming paradox between abnormal haemostasis on the one hand and a thrombotic predisposition in specific vascular beds on the other. The polycythaemia of Fallot’s tetralogy may lead to spontaneous venous thrombosis at any site due to progressive elevation of blood viscosity but Fallot’s tetralogy presenting, as splenic vein thrombosis is rare.

References

1. Bertranou EG, Blackstone EH, Hazelrig JB, Turner ME, Kirklin JW. Life expectancy without surgery in tetralogy of Fallot. Am J Cardio 1978; 42:458. MEDLINE
2. Rygg IH, Oelsen K, Boesen L. Life history of Tetralogy of Fallot. Dan Med Bull 1971; 18 (Suppl 2):25. MEDLINE
3. Miller TL, Lang P, Liberthson R, Grillo HC, Israel EJ. Upper gastrointestinal hemorrhage as a late complication of congenital heart disease. J Pediatr Gastroenterol Nutr 1996; 23:452-456.
4. Hoffmann A, Gunthardt J, Gatzi H, Haller M. A 63 year-old man with uncorrected tetralogy of Fallot. Z Kardiol 1995; 84:1039-1042.
5. Perloff JK, Child JS. Congenital heart disease in adults. 2(nd) edn. Philadelphia; WB Saunders Company: 1998.

This article is also available in full-text from http://www.jpgmonline.com/

© Copyright 2001 - Journal of Postgraduate Medicine