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J Pediatr. 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.

Author information

1
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.
2
Department of Radiology, Baylor College of Medicine, Houston, TX.
3
Section of Pediatric Pulmonology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
4
Division of Pulmonology, Department of Pediatrics, State University of New York-Buffalo, Buffalo, NY.
5
Department of Pathology and Immunology, Baylor College of Medicine, Houston, TX.
6
Section of Pediatric Cardiology, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
7
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX.
8
Division of Pulmonary Medicine, Department of Pediatrics, University of Cincinnati School of Medicine, Cincinnati, OH.
9
Division of Congenital Heart Surgery, Department of Surgery, Baylor College of Medicine, Houston, TX.
10
Section of Neurology and Developmental Neuroscience, Department of Pediatrics, Baylor College of Medicine, Houston, TX.
11
Section of Pediatric Pulmonology, Department of Pediatrics, Baylor College of Medicine, Houston, TX. Electronic address: gbmallor@texaschildrens.org.

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

PMID:
28457522
PMCID:
PMC5534178
DOI:
10.1016/j.jpeds.2017.03.045
[Indexed for MEDLINE]
Free PMC Article

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