Table 1 Summary of pediatric PAH associated with FLNA mutation

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