Table 1.
Summary of pediatric PAH associated with FLNA mutation
| Mutation | Sex | Age at diagnose | CHD | Chest CT | Lung transplantation | Medicine | Outcome | |
|---|---|---|---|---|---|---|---|---|
| Masurel-Paulet 2011[13] | mosaic nonsense mutation c.994delG(p.K331X) | male | 3 months | PDA | Bilateral atelectasis; lung cysts; tracheobronchomalacia; pulmonary emphysema; congenital lobar emphysema; | N | None | ND |
| Reinstein 2013 [14] | De novo c.2193C > A (p.Tyr731X) | female | 6 months | PDA | Areas of focal hyperinflation associated with minimal patchy atelectasis | N | Sildenifil | ND |
| De novo deletion of exons 2,5 and 13 | female | 18 months | VSD | N/A | N | Bosentan | ND | |
|
De novo c.5498_5504delCACCCACinsAC |
male | 2 months |
ASD;VSD; PDA |
N/A | N | None | Died | |
| Lord 2014 [12] | Truncating filamin A mutation(c.5683G-T, p.G1895*) | female | 4 months | ASD |
Bilateral pulmonary atelectasis and cysts, tracheobronchomalacia, Areas of hyperinflation alternating with heterogeneous areas of atelectasis; alveolar simplification |
N | Inhaled nitric oxide; sidenafil; bosentan | ND |
| Eltahir 2016 [13] | c.3153dupC in exon 21 | female | 2 months | PDA | Bilateral lung emphysema with basal atelectasis; bronchospasm | N | None | Died |
| Burrage 2017 [15] |
Heterozygous c.4596dupG (p.Ser1533Glufs*12) (de novo) |
female | 4 months | PFO, PDA | Multifocal atelectasis; perinflation and hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Alive |
|
Heterozygous c.5290G > A (p.Ala1764Thr) (de novo) |
female | 2 months | PFO, PDA, VSD | Perinflation hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Died | |
|
Heterozygous c.4446_4447dupAT(p.Leu1483Tyrfs* 19) (de novo) |
female | 1month | PFO,PDA | Perinflation hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Alive | |
|
Heterozygous c.4617_4618delGC(p.Leu1540Alafs*) |
female | 2 months | PFO, PDA | Perinflation hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Alive | |
|
Heterozygous c.6585dupT (p.Pro2196Serfs*3) (de novo) |
female | 7 montsh | PFO;PDA | Perinflation hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Alive | |
|
Heterozygous c.2807A > G (p.Lys936Arg) (VUS) |
female | 5 months | PFO, PDA | Perinflation hyperlucency; atelectasis; central pulmonary artery enlargement; tracheobronchomalacia | Y | Sildenafil | Alive | |
| Shelmerdine 2017 [10] |
Heterozygous for c.88delG, p.(Ala30fs) |
female | ND | PDA;PFO | Left lung hyperinflation; interstitial thickening in left; mediastinal shift to the right; right lobe consolidation | N | None | Died |
|
Heterozygous for c.6496dupA, p. (lle2166fs) |
female | ND | PDA | Progressive right lung hyperinflation; mediastinal shift to the left; right upper and middle lobe over inflation; coarse septal thickening; lower lobe atelectasis; patchy ground glass changes in lower lobes | N | Sildenafil | Alive | |
|
Heterozygous for c.2190_2193delTTAC, p(tyr731fs) |
female | ND | ASD;PDA | Right upper lobe hyperinflation; right middle lobe and left lower lobe atelectasis; right upper and middle, left upper lobe over-inflation; coarse septal thickening; lower lobe atelectasis | N | None | Alive | |
| Kinane 2017 [16] | c.6577delC; p.Arg2193AlafsX14[R219AfsX14 | female | 7w | PFO; VSD; PDA | Wilson–Mikity syndrome (pulmonary dysmaturity syndrome) | N | None | ND |
| Sasaki 2018 [17] | Deletion c.6670-1delG | male | neonate | PDA | Bilateral dependent and subsegmental atelectasis, scattered opacity | N | None | Died |
| Cannaerts 2018 [18] | cis-located c.7921C > G,p.Pro2641Ala,c.7923delC,p.Tyr2642Thrfs*63 | female | ND | ASD | ND | N | None | Died |
| This case | splicing c.5417-1G > A (exon 34) | female | 22 months | ASD | Central pulmonary artery enlargement; left upper lobe atelectasis | N | Bosentan | Died |
FLNA Filamin A; CT computed tomography; PDA patent ductus arteriosus; VSD ventricle septal defect; ASD atrial septal defect; N no; Y yes; ND Not provided