ArticleThe Journal of pediatrics2017
Lung Transplantation for FLNA-Associated Progressive Lung Disease.
Article in The Journal of pediatrics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 43 citations in OpenAlex.
- Wandering Spleen in a Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding.Pediatric transplantation · 2025Article
- Infant lung transplantation: First German experience including two cases of ABO blood group incompatible transplantations.JHLT open · 2025Article
- Interstitial lung disease in the newborn.Journal of perinatology : official journal of the California Perinatal Association · 2025Review
- Deficiency of filamin A in smooth muscle cells protects against hypoxia‑mediated pulmonary hypertension in mice.International journal of molecular medicine · 2023Article
- Platelet function and filamin A expression in two families with novel FLNA gene mutations associated with periventricular nodular heterotopia and panlobular emphysema.American journal of medical genetics. Part A · 2022Article
- Congenital lung lesions: a radiographic pattern approach.Pediatric radiology · 2022Review
- Cardiovascular and connective tissue disorder features in FLNA-related PVNH patients: progress towards a refined delineation of this syndrome.Orphanet journal of rare diseases · 2021Article
- Heterogeneous Pulmonary Phenotypes in Filamin A Mutation-Related Lung Disease.Pediatric allergy, immunology, and pulmonology · 2021Article
- Where the congenital heart disease meets the pulmonary arterial hypertension, FLNA matters: a case report and literature review.BMC pediatrics · 2020Review
- Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease.Breathe (Sheffield, England) · 2020Article
- Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.BMC pediatrics · 2019Review
- A review of filamin A mutations and associated interstitial lung disease.European journal of pediatrics · 2019Review
Corrections and comments
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Authors and funding
12 authors at 4 institutions in 1 country.
Funding
Abstract
objectiveTo describe a series of patients with pathogenic variants in FLNA and progressive lung disease necessitating lung transplantation. STUDY
designWe 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.
resultsEach 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.
conclusionsRespiratory 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.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.