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A Case Report of Tetralogy of Fallot in an Infant without a Cardiac Murmur at Presentation

Introduction: The purpose of this case presentation is to convey the importance of considering congenital heart abnormalities in previously healthy pediatric patients who present in a hypoxic, unresponsive state in the absence of cardiac murmur.

Case presentation: An 11-month old male who was previously healthy presenting with an episode of sudden unresponsiveness and respiratory failure of unknown etiology. The patient was transferred from an outside facility to a pediatric emergency department (ED) in respiratory failure with altered metal status.

Management and outcome: Following initial stabilization the patient remained hypotensive. In the ED a bedside cardiac ultrasound demonstrated poor left ventricular contraction. Traumatic and Neurosurgical emergencies were ruled out in the ED and the patient was admitted to the pediatric intensive care unit (PICU) for presumed cardiopulmonary failure. In the PICU the patient remained hypotensive and Extracorporeal Membrane Oxygenation (ECMO) was initiated. A formal cardiac ultrasound was obtained which demonstrated findings consistent with Tetralogy of Fallot. The patient was transferred to an outside facility for pediatric cardiothoracic surgery evaluation. His abnormality was ultimately repaired.

Discussion: The majority of congenital heart disease is diagnosed near the time of birth but may present suddenly in otherwise well pediatric patients. Clinical suspicion for congenital heart disease should be in the differential diagnosis of an unresponsive pediatric patient without cardiac murmur. We review the presentation and clinical findings in patients with Tetralogy of Fallot.


Brett Hansen and Mary Emborsky

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