Lung Transplantation for FLNA-Associated Progressive Lung Disease.

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 pati

SUBMITTER: Burrage LC 

PROVIDER: S-EPMC5534178 | biostudies-literature | 2017 Jul

REPOSITORIES: biostudies-literature