Respiratory distress in a 2-month-old infant: Is the primary cause cardiac, pulmonary or both?

Abstract

A 2-month-old female with worsening cough, respiratory distress and an abnormal chest X-ray was referred to our institution for further evaluation of suspected scimitar syndrome. She was found to have normal pulmonary venous drainage with a large patent ductus arteriosus and severe pulmonary arterial hypertension. Chest CT was suggestive of interstitial lung disease. Wedge lung biopsy revealed alveolar simplification and patchy pulmonary interstitial glycogenosis. A definitive diagnosis of Filamin A deficiency was made with genetic studies. The patient is currently showing clinical improvement on systemic glucocorticoid therapy. Keywords: Filamin A, Interstitial lung disease, Congenital heart defect, Pulmonary interstitial glycogenosis, Pulmonary arterial hypertension, Patent ductus arteriosus