ReviewBMC pediatrics2019
Congenital emphysematous lung disease associated with a novel Filamin A mutation. Case report and literature review.
Review in BMC pediatrics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Wandering Spleen in a Pediatric Lung Transplant Patient With Filamin A Deficiency: An Incidental Finding.Pediatric transplantation · 2025Article
- FLNA Mutations in Multisystem Disease: A Diagnostic Key for Unexplained Valvular and Connective Tissue Disorder.JACC. Case reports · 2025Article
- Secondary spontaneous pneumothorax as the presenting manifestation of filamin A-associated lung disease.ERJ open research · 2024Article
- Article
- Diffuse alveolar hemorrhage in children with interstitial lung disease: Determine etiologies!Pediatric pulmonology · 2023Article
- Allogeneic Mesenchymal Stromal Cells as a Global Pediatric Prospective Approach in the Treatment of Respiratory Failure Associated with Surfactant Protein C Dysfunction.Children (Basel, Switzerland) · 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
- Phenotypic manifestations inBMJ case reports · 2022Review
- Article
- 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
- Recognizing genetic disease: A key aspect of pediatric pulmonary care.Pediatric pulmonology · 2020Review
- Clues beyond the lung: an unusual diagnosis in an infant with chronic lung disease.Breathe (Sheffield, England) · 2020Article
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Authors and funding
11 authors at 6 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundProgressive lung involvement in Filamin A (FLNA)-related cerebral periventricular nodular heterotopia (PVNH) has been reported in a limited number of cases. CASE PRESENTATION: We report a new pathogenic FLNA gene variant (c.7391_7403del; p.Val2464Alafs*5) in a male infant who developed progressive lung disease with emphysematous lesions and interstitial involvement. Following lobar resection, chronic respiratory failure ensued necessitating continuous mechanical ventilation and tracheostomy. Cerebral periventricular nodular heterotopia was also present.
conclusionsWe report a novel variant of the FLNA gene, associated with a severe lung disorder and PNVH. The lung disorder led to respiratory failure during infancy and these pulmonary complications may be the first sign of this disorder. Early recognition with thoracic imaging is important to guide genetic testing, neuroimaging and to define optimal timing of potential therapies, such as lung transplant in progressive lung disease.
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