Clinical and haemodynamic findings and bone morphogenetic protein receptor (BMPR)-2 mutations in BMPR2-positive children and adults with pulmonary arterial hypertension/congenital heart disease
| Adult 1 | Adult 2 | Adult 3 | Child 4 | Child 5 | Child 6 | |
| Age initial cat. yrs | 19 | 57 | 19 | 3 | 13 | 3.5 |
| Age at PAH diagnosis yrs | 1 | 16 | 5 | 3 | 2 | 19# |
| Age at repair yrs | NA | NA | 4 | NA | NA | 20# |
| Outcome/age yrs | Lost to f-u | Lost to f-u | Tx, 23 | A, 16 | A, 18 | D, 5 |
| Sex M/F | F | F | M | F | M | M |
| Ethnicity | White | White | White | White | Asian | White |
| Type of CHD | AVC-C | AVC-C | AVC-C | ASD/PDA | ASD/PDA/PAPVR | AW and VSD |
| PAPm kPa (mmHg) | 9.33 (70) | ND | 10.0 (75) | 8.13 (61) | 9.2 (69) | 10.0 (75) |
| RAPm kPa (mmHg) | 0.93 (7) | ND | 1.06 (8) | 0.53 (4) | 0 (0) | 0.53 (4) |
| CI L·min−1·m−2 | 8.3 | ND | 4.0 | 2.3 | 3.2 | 4.0 |
| PVR Wood units·m−2 | 18 | ND | 23 | 19 | 10 | 22 |
| SVR Wood units·m−2 | 8 | ND | 13 | 25 | 21 | 13 |
| MVSa,O2 % | 50 | ND | 52 | 65 | 60 | 68 |
| Sa,O2 % | 64 | ND | 84 | 91 | 86 | 90 |
| Genetic syndrome | Down | N | N | Ring 14 | N | N |
| BMPR2 mutation | ||||||
| Exon | 2 | 3 | 3 | 5 | 11 | 2 |
| Nucleic acid change | 125A>G | 304A>G | 319T>C | 556A>G | 1509A>C | 140G>A |
| Amino acid change | Q42R | T102A | S107P | M186V | E503D | G47N |
| Type of mutation | Missense | Missense | Missense | Missense | Missense | Missense |
Cat.: catheterisation
PAH: pulmonary arterial hypertension
M: male
F: female
CHD: congenital heart defects
PAPm: mean pulmonary artery pressure
RAPm: mean right atrial pressure
CI: cardiac index
PVR: pulmonary vascular resistance
SVR: systemic vascular resistance
MVSa,O2: mixed venous oxygen saturation
Sa,O2: systemic oxygen saturation
NA: not applicable
f-u: follow-up
Tx: heart-lung transplant
A: alive
D: dead
AVC-C: complete atrial ventricular canal defect type C
ASD: atrial septal defect
PDA: patent ductus arteriosus
PAPVR: partial anomalous pulmonary venous return
AW: aortopulmonary window
VSD: ventricular septal defect
ND: not done
Down: Down syndrome
N: normal
Ring 14: ring chromosome 14
#: months