Mutations carriers#,+,§ | Non-carriers¶,+ | p-value | |
Age at diagnosis years mean±sd | 8.3±5.9 | 8.5±5.8 | NS |
NYHA I–II | 2 (17%) | 18 (63%) | 0.006 |
NYHA III–IV | 10 (83%) | 10 (37%) | |
Syncope | 8 (67%) | 8 (29%) | 0.02 |
Increased NT-proBNP§ | 5 (41%) | 8 (29%) | NS |
Elevated CECƒ | 8 (66%) | 12 (44%) | NS |
TAPSE mm | 15±2.8 | 19.3±3.7 | NS |
Mean PAP mmHg | 69.2±19.2 | 63±14.2 | NS |
RAP mmHg | 7.5±2.7 | 5.7±1.5 | 0.043 |
PVRI Wood units·m2 | 23±12.4 | 18.9±10.6 | 0.07 |
CI L·min−1·m−2 | 3.4±1.3 | 3.5±1.1 | NS |
AVT responder | 1 (6%) | 8 (25%) | NS |
First-line therapy | |||
Calcium channel blockers | 1 | 8 | NS |
Oral ERA or PDE5 inhibitor | 3 | 13 | NS |
Oral combination therapy with ERA and PDE5 inhibitor | 3 | 4 | NS |
Oral combination + i.v./s.c. prostanoids | 5 (41%) | 3 (11%) | 0.025 |
Data are presented as mean±sd, unless otherwise stated. PAH: pulmonary arterial hypertension; IPAH: idiopathic PAH; FPAH: familial PAH; NYHA: New York Heart Association (classes I–IV); NT-proBNP: N-terminal pro-brain natriuretic peptide; CEC: circulating endothelial cells; TAPSE: tricuspid annular plane systolic excursion; PAP: pulmonary arterial pressure; RAP: right atrial pressure; PVRI: pulmonary vascular resistance index; CI: cardiac index; AVT: acute pulmonary vasodilator testing; ERA: endothelin receptor antagonist; PDE5: phosphodiesterase type 5; NS: nonsignificant. #: n=12; eight IPAH cases and four FPAH cases; nine females and three males; ¶: n=28; 24 IPAH and four FPAH; 18 females and 10 males; +: pulmonary veno-occlusive disease excluded; §: one patient underwent right-heart catheterisation after treatment initiation; ƒ: CEC >300 pg·mL−1.