loading page

Lung disease due to FLNA mutation improved after shunt closure for congenital heart disease
  • +5
  • Satomi Mori,
  • Koji Tanoue,
  • Hiroyuki Shimizu,
  • Hiroyuki Nagafuchi,
  • Ki Kim ,
  • Hiroaki Murakami,
  • Kenji Kurosawa,
  • Kiyoshi Matsui
Satomi Mori
Kanagawa Childrens Medical Center
Author Profile
Koji Tanoue
Kanagawa Childrens Medical Center
Author Profile
Hiroyuki Shimizu
Kanagawa Childrens Medical Center
Author Profile
Hiroyuki Nagafuchi
Kanagawa Childrens Medical Center
Author Profile
Ki Kim
Kanagawa Childrens Medical Center
Author Profile
Hiroaki Murakami
Kanagawa Childrens Medical Center
Author Profile
Kenji Kurosawa
Kanagawa Childrens Medical Center
Author Profile
Kiyoshi Matsui
Kanagawa Childrens Medical Center
Author Profile

Abstract

The FLNA gene encodes filamin A, an actin filament cross-linking protein that is ubiquitously expressed within the body. FLNA mutation causes periventricular nodular heterotopia (PVNH) and congenital heart disease. Interstitial lung disease (ILD) related to FLNA mutation has also been reported from 2011 and can be lethal. However, there are no reports of how to combine the treatment of heart disease with the conflicting treatment of lung disease. We herein report cases of two girls with FLNA mutation and both ILD and left-to-right shunts due to congenital heart disease. They presented with respiratory symptoms in early infancy and required management with long-term intubation and ventilation. However, their respiratory status improved subsequent to the closure of their left-to-right shunts even though they were small shunts with improvement in pulmonary hypertension. This suggests that early intervention with closure of cardiac shunts can prevent further deterioration of lung damage.

Peer review status:ACCEPTED

24 Nov 2020Submitted to Pediatric Pulmonology
26 Nov 2020Submission Checks Completed
26 Nov 2020Assigned to Editor
28 Nov 2020Reviewer(s) Assigned
21 Dec 2020Review(s) Completed, Editorial Evaluation Pending
29 Dec 2020Editorial Decision: Revise Minor
06 Jan 20211st Revision Received
06 Jan 2021Submission Checks Completed
06 Jan 2021Assigned to Editor
06 Jan 2021Reviewer(s) Assigned
07 Jan 2021Review(s) Completed, Editorial Evaluation Pending
08 Jan 2021Editorial Decision: Accept