Table 1 Features of reported cases of filamin A mutation
From: Lung disease associated with filamin A gene mutation: a case report
| Â | Masurel-Paulet et al. [1] | de Wit et al. [10] | Lord et al. [11] | This case |
|---|---|---|---|---|
Genetic mutation | Mosaic nonsense filamin A mutation (c.994delG.P.K331X) | Missense filamin A mutation (c.220G>P.G74R ) | Truncating filamin A mutation (c.5683G>T,p.G1895*) | Pathogenic variant (c.3153dupC) in exon 21 filamin A gene |
Sex | Male | Female | Female | Female |
Birth | Term with uncomplicated perinatal course | Term with uncomplicated perinatal course | Premature at 30 weeks mild respiratory distress resolved after 48 hours | Premature at 36 weeks with respiratory distress, needed ventilation for first 36 hours |
Age at presentation | 1.5 months | 3 months | 24 days | 2 months |
Pulmonary manifestation and pathology | Tachypnea, recurrent respiratory infections, asthma, prolonged oxygen dependence, lung atelectasis and lung cysts, tracheobronchomalacia, pulmonary arterial hypertension | Dyspnea, recurrent respiratory infections, prolonged oxygen dependence until 1 year and 7 months of age. Emphysema of right middle lobe, bronchomalacia of right bronchial tree | Tachypnea with desaturations, pulmonary arterial hypertension, oxygen dependence until 22 months of age bilateral pulmonary atelectasis and cysts. Tracheobronchomalacia | Recurrent cyanotic events, respiratory distress, episodes of choking and vomiting, with associated bronchospasm pulmonary arterial hypertension, prolonged oxygen and ventilator dependence until death at 15 months of age, bilateral pulmonary emphysema and basal atelectasis tracheal stenosis |
Chest X-ray | Bilateral subsegmental atelectasis with hyperlucent areas in both mid zones | Â | Cystic pulmonary lesions alternating with heterogeneous areas of atelectasis | Multiple subsegmental atelectasis and areas of air trapping |
Chest CTscan | Widespread peribronchial thickening, subsegmental collapse, fluid within oblique fissure, eventration of the left hemidiaphragm | Severe lobar emphysema of right middle lobe with displacement of medistinal structures to left and compression of left upper lobe | Patchy ground-glass appearance with area of hyperinflation and cystic pulmonary lesions alternating with heterogeneous areas of atelectasis and thickening of interlobar septa | Bilateral lower lobe airspace diseases, hyperinflation of both upper lobes, enlarged main pulmonary artery, right aberrant subclavian artery, compressing esophagus and trachea |
Surgery | Subtotal upper lobectomy at age of 8 months for lobar emphysema. | Lobectomy of right middle lobe for lobar emphysema | Â | Â |
Lung histology results | Panpulmonary emphysema with global absence of bronchial cartilage and hypertensive pulmonary vascular disease | Lung emphysema without inflammation | Mild to moderate chronic lung disease with associated alveolar simplification and pulmonary hypertension | Alveolated lung parenchyma with alveolar simplification |
The associated nonpulmonary features | Periventricular nodular heterotopia with left cerebellar hemisphere hypoplasia and cisterna magna, truncal hypotonia, PDA, aortic root dilatation, bifid right urinary drainage system supraumbilical hernia, macrothrombocytes | Periventricular nodular heterotopia, with an enlarged retrocerebellar cyst, secundum atrial septal defect and coarctation of the aorta, hypotonia, severe hyperlaxity | Periventricular nodular heterotopia, secundum atrial septal defect, mild axial hypotonia | Suspected periventricular nodular heterotopia, PDA, angiogenesis causing dysphagia lusoria, hypotonia and joint laxity |
Outcomes | Follow-up to 6 years | Follow-up to 3 years | Follow-up to 22 months | Death at 15 months |