Clinical characteristics and results of molecular analyses of 20 childhood-onset PAH patients
| Patient number | Agedx | Sex | mPAP (10–20) | PVRi (<2.5) | mPCWP (<15) | CI (3.0–5.5) | MR/DF | Mutation | Parents Mo/Fa |
|---|---|---|---|---|---|---|---|---|---|
| 1 | 2.2 | m | 41 | 11 | 6 | 3.5 | + | Del 17q23.2 (55.5–57.7 Mb) | no/no |
| 2 | 7.0 | m | 43 | 7 | 10 | 2.7 | + | Del 17q23 (56.7–58.7 Mb) | no/n.a. |
| 3 | 2.8 | m | 26 | 6 | 6 | – | + | Del 17q23.2 (55.6–57.7 Mb) | no/no |
| 4 | 2.4 | f | 31 | – | 7 | – | − | TBX4 exon 3 c.355_356het_insA;p.Ile119Asn fsX6 | yes/no |
| 5 | 15.4 | f | 84 | 27 | 10 | 2.7 | − | TBX4 exon 8 c.1164_1165het_insC;p.Arg389Gln fsX30 | no/yes |
| 6† | 8.1 | m | 65 | 25 | 4 | 2.4 | − | TBX4 exon 8 c.1145A>C;p.Tyr382Ser | n.a./n.a |
| 7† | 10.2 | m | – | – | – | – | − | BMPR2 c.399del T;p.Pro134Leu fsX18 | no/no |
| 8 | 7.0 | f | 66 | 27 | 8 | 2.1 | − | BMPR2 c.47G>A;p.Trp16X | no/no |
| 9 | 15.8 | f | 57 | 20 | 10 | 3.2 | − | BMPR2 c.2695C>T;p.Arg899X | no/no |
| 10 | 13.7 | m | 82 | 31 | 7 | 1.4 | − | – | |
| 11 | 4.4 | f | 34 | 12 | 5 | 4.3 | − | – | |
| 12 | 14.2 | m | 91 | 47 | 13 | 1.7 | − | – | |
| 13 | 3.1 | f | 33 | 10 | 10 | 2.9 | − | – | |
| 14 | 2.1 | m | 55 | 18 | 8 | 2.8 | − | – | |
| 15 | 0.5 | f | 28 | 5 | 10 | 2.8 | + | – | |
| 16 | 12.8 | f | 47 | 36 | 9 | 2.1 | − | – | |
| 17† | 1.3 | m | – | – | – | – | − | – | |
| 18† | 6.1 | f | 57 | 12 | 11 | 4.0 | − | – | |
| 19† | 8.0 | m | 64 | 12 | 6 | 2.7 | + | – | |
| 20† | 0.3 | f | – | – | – | – | + | – |
Patients 7, 17 and 20 died before right heart catheterisation could be performed, but echocardiography and autopsy confirmed a diagnosis of idiopathic PAH in all three.
†, deceased; agedx, age at diagnosis (in years); sex: m, male/f, female; mPAP, mean pulmonary arterial pressure (mm Hg, normal value between brackets); PVRi, pulmonary vascular resistance indexed for body surface area (Wood's Units times m2, normal value between brackets); mPCWP, mean pulmonary capillary wedge pressure (mm Hg), CI, cardiac index (l/min/m2, normal value between brackets); MR/DF, mental retardation/dysmorphic features. parents: Mo, mother; Fa, father; no/no, both parents tested, no mutation; yes, mutation also present in parent; n.a., parent not available for testing.