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. 2017 Jul:186:118-123.e6.
doi: 10.1016/j.jpeds.2017.03.045. Epub 2017 Apr 28.

Lung Transplantation for FLNA-Associated Progressive Lung Disease

Lindsay C Burrage  1 , R Paul Guillerman  2 , Shailendra Das  3 , Shipra Singh  4 , Deborah A Schady  5 , Shaine A Morris  6 , Magdalena Walkiewicz  7 , Marc G Schecter  8 , Jeffrey S Heinle  9 , Timothy E Lotze  10 , Seema R Lalani  1 , George B Mallory  11
Affiliations

Lung Transplantation for FLNA-Associated Progressive Lung Disease

Lindsay C Burrage et al. J Pediatr. 2017 Jul.

Abstract

Objective: To describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation.

Study design: We conducted a retrospective chart review of 6 female infants with heterozygous presumed loss-of-function pathogenic variants in FLNA whose initial presentation was early and progressive respiratory failure.

Results: Each patient received lung transplantation at an average age of 11 months (range, 5-15 months). All patients had pulmonary arterial hypertension and chronic respiratory failure requiring tracheostomy and escalating levels of ventilator support before transplantation. All 6 patients survived initial lung transplantation; however, 1 patient died after a subsequent heart-lung transplant. The remaining 5 patients are living unrestricted lives on chronic immunosuppression at most recent follow-up (range, 19 months to 11.3 years post-transplantation). However, in all patients, severe ascending aortic dilation has been observed with aortic regurgitation.

Conclusions: Respiratory failure secondary to progressive obstructive lung disease during infancy may be the presenting phenotype of FLNA-associated periventricular nodular heterotopia. We describe a cohort of patients with progressive respiratory failure related to a pathogenic variant in FLNA and present lung transplantation as a viable therapeutic option for this group of patients.

Keywords: diffuse lung disease; lung growth disorder; periventricular nodular heterotopia; pulmonary overinflation.

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Conflict of interest statement

Conflict of Interest Statement: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Serial anteroposterior chest radiographs of the index patient at age 4 months (A), 7 months (B), and 12 months (C) show parahilar atelectasis and progressively severe pulmonary hyperinflation. Axial chest computed tomography (CT) images (D,E) of the index patient at 10 months of age demonstrate severe pulmonary hyperinflation and hyperlucency with peripheral pulmonary vascular attenuation, most marked of the upper and middle lobes, and atelectasis of the dependent posterior lung regions.
See this image and copyright information in PMC

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