BMPR2 | ACVRL1 | TBX4 | EIF2AK4 | No mutation | |
Patients | 5 | 4 | 3 | 2 | 28 |
Female/male | 3/2 | 3/1 | 3/0 | 1/1 | 18/10 |
NYHA I–II | 0 | 2 | 1 | 1 | 18 |
NYHA III–IV | 5 | 2 | 2 | 1 | 10 |
Syncope | 4 | 1 | 3 | 1 | 8 |
Elevated NT-ProBNP | 2 | 2 | 0 | 1 | 8 |
Elevated number of CEC | 4 | 2 | 2 | 1 | 9 |
TAPSE mm | 17±22 | 14±10 | 13±1 | 21–20 | 19.3±4.6 |
Mean PAP mmHg | 76±19 | 61±23 | 65±19 | 25–54 | 62±22 |
RAP mmHg | 7.5±2.5 | 5.6±0.6 | 3±1 | 6–7 | 5.7±2.2 |
PVRI Wood units·m2 | 29±23 | 14.3±5.7 | 13.5±19 | 5–28 | 19.2±9.6 |
CI L·min−1·m−2 | 3.3±1.4 | 4.5±1.6 | 8±4 | - | 3.5±1.3 |
AVT responder | 0 | 0 | 1 | 0 | 8 |
First-line therapy | |||||
Calcium channel blockers | 0 | 0 | 1 | 0 | 8 |
Oral ERA or PDE5 inhibitor | 1 | 2 | 1 | 0 | 13 |
Oral combination therapy with ERA and PDE5 inhibitor | 1 | 1 | 1 | 1 | 4 |
Oral combination + i.v./s.c. prostanoids | 3 | 1 | 1 | 1 | 3 |
Data are presented as n or mean±sd. 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.