Newly Diagnosed Tetralogy of Fallot in a 26-Year-Old Afghan Soldier

Abstract

SESSION TITLE: Genetic and Developmental Disorders SESSION TYPE: Affiliate Case Report Poster PRESENTED ON: Tuesday, October 31, 2017 at 01:30 PM - 02:30 PM INTRODUCTION: Tetralogy of Fallot (TOF) is a spectrum of anatomical abnormalities that include a tetrad of (1) ventricular septal defect (VSD), (2) over-riding aorta, (3) right ventricular outflow obstruction, and (4) right ventricular hypertrophy. We present a 26 year-old male with acute dyspnea who was unexpectedly found to have Tetralogy of Fallot alongside other congenital vascular abnormalities. CASE PRESENTATION: A 26 year-old Afghan male with no past medical history presented for acute evaluation at a combat surgical hospital in Helmand Province, Afghanistan for 3 months of progressive exertional dyspnea, chest pain, and cyanosis. One of his siblings died suddenly as a teenager from unknown cause. Initial evaluation revealed heart rate of 118 and Sp02 of 62% on room air. Physical exam was notable for clear lungs, clubbing and cyanosis, a loud 5/6 holosystolic murmur, and displaced point of maximal impulse. Arterial blood gas on room air demonstrated PaO2 of 53 mmHg with normal pH. Chest radiograph showed enlarged cardiac silhouette and clear lungs. Electrocardiogram showed extreme right axis deviation, inferior Q-waves, and right atrial enlargement. Suspecting congenital heart disease, the patient was managed conservatively with supplemental oxygen by nasal cannula while awaiting confirmatory testing. Bedside cardiac ultrasonography demonstrated a large VSD and subsequent CT angiogram of the chest identified TOF as well as multiple other congenital abnormalities including right sided aortic arch, major aortopulmonary collateral arteries, a true vascular ring, and bronchus suis. The patient was counselled on his diagnosis and transported to a large hospital in Kabul, although there are no known surgical capabilities for TOF repair in this country. DISCUSSION: This is a unique presentation of hypoxia in a young soldier. In the developed world, this condition is often identified during prenatal ultrasonography screening, which can lead to early intervention and treatment. Before the advent of surgical repair techniques, approximately 50% of patients died in the first 1-2 years of life, and it was very rare to survive beyond age 30. The most commonly associated genetic abnormality is a microdeletion of 22q11 seen in 25% of patients. Less than 8% of patients survive to age 26 with uncorrected TOF, with death usually resulting from right sided heart failure or malignant arrhythmias. Patients with pulmonary atresia have a much shorter life expectancy (4% alive at age 26) than patients with pulmonary stenosis (9% alive at age 26). Surgical repair in older adults is feasible but carries increased operative risk compared to operating on infants. CONCLUSIONS: Tetralogy of Fallot is a congenital heart disease usually diagnosed and repaired at birth. Late presentations are rare in developed countries and life expectancy without repair is very limited. Reference #1: Apitz, Christian et al. Tetralogy of Fallot. The Lancet; 2009; 374 (9699):1462 - 1471. DISCLOSURE: The following authors have nothing to disclose: Andrew Berglund, David Ferraro No Product/Research Disclosure Information