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Lung Transplantation for FLNA-Associated Progressive Lung Disease
Lindsay C Burrage1, R Paul Guillerman2, Shailendra Das3
1Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX; Texas Children's Hospital, Houston, TX.
The Journal of Pediatrics
|May 2, 2017
Summary
Filamin A (FLNA) gene variants can cause progressive lung disease in infants, leading to respiratory failure. Lung transplantation offers a viable treatment option for these children, with most survivors experiencing improved quality of life.
Area of Science:
- Genetics and Molecular Biology
- Pediatric Pulmonology
- Cardiology
Background:
- Progressive obstructive lung disease in infancy can be a manifestation of FLNA-associated periventricular nodular heterotopia.
- Pathogenic variants in the FLNA gene are associated with severe respiratory compromise.
- Early and progressive respiratory failure necessitates advanced medical interventions.
Purpose of the Study:
- To describe a cohort of patients with FLNA pathogenic variants and progressive lung disease.
- To evaluate lung transplantation as a therapeutic option for FLNA-related respiratory failure.
- To highlight the long-term outcomes and associated cardiovascular complications post-transplantation.
Main Methods:
- Retrospective chart review of 6 female infants with heterozygous FLNA loss-of-function variants.
- Analysis of clinical presentation, respiratory support requirements, and lung transplantation details.
- Long-term follow-up assessment of patient survival, quality of life, and cardiovascular status.
Main Results:
- All patients presented with early, progressive respiratory failure requiring mechanical ventilation and tracheostomy.
- Lung transplantation was performed at an average age of 11 months.
- Five of six patients survived the initial transplant, with long-term survival noted, but all developed severe ascending aortic dilation and aortic regurgitation.
Conclusions:
- FLNA pathogenic variants can present with severe infantile respiratory failure and progressive lung disease.
- Lung transplantation is a potentially life-saving intervention for FLNA-associated respiratory failure.
- Close cardiovascular monitoring for aortic dilation and regurgitation is crucial in FLNA patients post-transplantation.
