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

Nadir Demirel, Roberto Ochoa, Megan K. Dishop, Tara Holm, William Gershan, Gail Brottman

Research output: Contribution to journalArticlepeer-review

7 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)61-65
Number of pages5
JournalRespiratory Medicine Case Reports
StatePublished - 2018

Bibliographical note

Funding Information:
The authors thank Drs. Mark Luquette, Faqian Li and Emilian Racila from Department of Laboratory Medicine and Pathology at the University of Minnesota for their support in preparation and interpretation of pathology slides.

Publisher Copyright:
© 2018


  • Congenital heart defect
  • Filamin A
  • Interstitial lung disease
  • Patent ductus arteriosus
  • Pulmonary arterial hypertension
  • Pulmonary interstitial glycogenosis


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