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

doi:10.1016/j.rmcr.2018.06.010

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 journal › Article › peer-review

7 Scopus citations

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.

Original language	English (US)
Pages (from-to)	61-65
Number of pages	5
Journal	Respiratory Medicine Case Reports
Volume	25
DOIs	https://doi.org/10.1016/j.rmcr.2018.06.010
State	Published - 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

Keywords

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

UN SDGs

This output contributes to the following UN Sustainable Development Goals (SDGs)

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10.1016/j.rmcr.2018.06.010

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6039757

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title = "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 = "Congenital heart defect, Filamin A, Interstitial lung disease, Patent ductus arteriosus, Pulmonary arterial hypertension, Pulmonary interstitial glycogenosis",

author = "Nadir Demirel and Roberto Ochoa and Dishop, {Megan K.} and Tara Holm and William Gershan and Gail Brottman",

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: {\textcopyright} 2018",

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doi = "10.1016/j.rmcr.2018.06.010",

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T1 - Respiratory distress in a 2-month-old infant

T2 - Is the primary cause cardiac, pulmonary or both?

AU - Demirel, Nadir

AU - Ochoa, Roberto

AU - Dishop, Megan K.

AU - Holm, Tara

AU - Gershan, William

AU - Brottman, Gail

N1 - 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

PY - 2018

Y1 - 2018

N2 - 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.

AB - 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.

KW - Congenital heart defect

KW - Filamin A

KW - Interstitial lung disease

KW - Patent ductus arteriosus

KW - Pulmonary arterial hypertension

KW - Pulmonary interstitial glycogenosis

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ER -

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

Abstract

Bibliographical note

Keywords

UN SDGs

Publisher link

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