Case 28-2019: A 22-Year-Old Woman with Dyspnea and Chest Pain

N Engl J Med. 2019 Sep 12;381(11):1059-1067. doi: 10.1056/NEJMcpc1904041.

Authors

Ted M Kremer¹, Mark E Lindsay¹, T Bernard Kinane¹, Megan H Hawley¹, Brent P Little¹, Mari Mino-Kenudson¹

Affiliation

¹ From the Department of Pediatrics, UMass Memorial Medical Center, and the Department of Pediatrics, University of Massachusetts Medical School, Worcester (T.M.K.), the Departments of Pediatrics (M.E.L., T.B.K.), Radiology (B.P.L.), and Pathology (M.M.-K.), Massachusetts General Hospital, and the Departments of Pediatrics (M.E.L., T.B.K.), Radiology (B.P.L.), and Pathology (M.M.-K.), Harvard Medical School, Boston, and the Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine, Cambridge (M.H.H.) - all in Massachusetts.

PMID: 31509678
DOI: 10.1056/NEJMcpc1904041

No abstract available

Publication types

Case Reports
Clinical Conference

MeSH terms

Aortic Valve Prolapse / complications
Chest Pain / etiology
Cough / etiology
Diagnosis, Differential
Dyspnea / etiology
Female
Filamins / genetics*
Heart Defects, Congenital / complications
Heterozygote
Humans
Lung / diagnostic imaging
Lung / pathology*
Lung Diseases, Interstitial / complications
Lung Diseases, Interstitial / diagnosis*
Lung Diseases, Interstitial / genetics
Mutation*
Periventricular Nodular Heterotopia / genetics
Pulmonary Emphysema / congenital
Pulmonary Emphysema / surgery
Respiratory Function Tests
Tomography, X-Ray Computed
Young Adult

Substances

FLNA protein, human
Filamins

Supplementary concepts

Congenital lobar emphysema