Pulmonary Interstitial Emphysema in an Infant with Critical Congenital Heart Defect Associated with TNNC1 Gene Mutation and 22q11.2 Microdeletion: A Case Report

Pulmonary interstitial emphysema is a clinical state occurring in newborns and infants that involves lung damage with air leak into the pulmonary interstitium. The data about this condition among newborns with critical heart defects are limited. We report a case of an infant with complex heart disease, 22q11.2 microdeletion, and TNNC1 gene mutation presenting with pulmonary interstitial emphysema. The infant was intubated for respiratory failure and underwent pulmonary artery banding. Weaning from mechanical ventilation was complicated with pulmonary interstitial emphysema and pneumothorax development. Pulmonary interstitial emphysema was fully resolved after lateral decubitus positioning on the affected side down. Complete repair of the common arterial trunk was accomplished at the age of 2 months with no signs of residual pulmonary interstitial emphysema. Lateral decubitus positioning may be effective as a non-invasive treatment in an infant with pulmonary interstitial emphysema and complex heart disease.