From: Mutational and clinical analysis of the ENG gene in patients with pulmonary arterial hypertension
Clinical features and hemodynamic parameters | Total patients | Carriers of pathogenic mutationsa | Carriers of p.G191N mutationb | ||
---|---|---|---|---|---|
Clinical data | p-value | Clinical data | p-value | ||
Number | 57 | 16 | ---------- | 10 | ---------- |
Gender | 21 M/36 F | 6 M/10 F | n.s | 2 M/8 F | n.s |
Age at diagnosis (years) | 49 ± 15 | 41 ± 16 | 0.040 | 39 ± 18 | 0.035 |
mPaP (mmHg) | 49 ± 14 | 48 ± 11 | n.s | 45 ± 12 | n.s |
sPaP (mmHg) | 70 ± 19 | 75 ± 16 | n.s | 67 ± 18 | n.s |
PVR (mmHg.l−1.m−1) | 8.2 ± 3.5 | 8.6 ± 3.2 | n.s | 8.3 ± 0.9 | n.s |
CI (l.m−1.m−2) | 2.6 ± 0.6 | 2.5 ± 0.7 | n.s | 2.1 ± 0.5 | 0.049 |
6MWT (m) | 445 ± 139 | 323 ± 162 | 0.040 | 457 ± 172 | n.s |
PAH types | 29 IPAH/28 APAH | 7 IPAH/9 APAH | n.s | 8 IPAH/2 APAH | 0.040 |