Lung disease associated with filamin A gene mutation: a case report

Abstract

Background: Mutations in the gene encoding filamin A (FLNA) lead to diseases with high phenotypic diversity including periventricular nodular heterotopia, skeletal dysplasia, otopalatodigital spectrum disorders, cardiovascular abnormalities, and coagulopathy. FLNA mutations were recently found to be associated with lung disease. In this study, we report a novel FLNA gene associated with significant lung disease and unique angiogenesis.

Case presentation: Here, we describe a 1-year-old Saudi female child with respiratory distress at birth. The child then had recurrent lower respiratory tract infections, bilateral lung emphysema with basal atelectasis, bronchospasm, pulmonary artery hypertension, and oxygen and mechanical ventilation dependency. Molecular testing showed a new pathogenic variant of one copy of c.3153dupC in exon 21 in the FLNA gene.

Conclusions: Our data support previous reports in the literature that associate FLNA gene mutation and lung disease.

Keywords: Angiogenesis; FLNA; Lung disease; Pediatrics.

Fig. 1

Chest X-ray anteroposterior view shows multiple subsegmental atelectasis, areas of air trapping and osteopenia

Fig. 2

Computed tomography angiography axial view below bifurcation of carina shows basal lung atelectasis, lung hyperinflation, and enlarged main pulmonary artery

Fig. 3

Computed tomography angiography sagittal view shows right aberrant subclavian artery posterior compression to the esophagus at level of T4 vertebra and minimal compression in the posterior trachea

Fig. 4

Barium meal shows external compression noted along posterior wall of proximal third of the thoracic esophagus causing significant narrowing of esophageal lumen

Fig. 5

Alveolated lung parenchyma (black arrows) with alveolar simplification. Small yellow arrow: from the microscope that is probably not relevant

Fig. 6

Normal alveolar septation