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Table 1 Clinical parameters

From: EIF2AK4 mutation as “second hit” in hereditary pulmonary arterial hypertension

Parameter II:4 III:2 III:4
Age at diagnosis 49 29
mPAP [mmHg] a 55 63
PAWP [mmHg] b 13 14
CO [l/min] 6.1 5.1
CI [l/min/m2] 3.2 2.4
PVR [dynes] 551 736
SaO2 [%] 97 98 96
sPAP [mmHg] at rest c 94 47 20
sPAP [mmHg] during exercise c 100 95 29
Peak VO2 [ml/min/kg] 18 17 24
RV area [cm2] 18 27 15
TAPSE [cm] 3.0 2.4 2.3
DLCO predicted [%] 77 60 91
NT-proBNP [ng/l] 89 58 31
6-MWD [m] 480 560
Medication Silenafil, Macitentan Sildenafil, Macitentan
  1. amPAP ≥25 mmHg characterises pulmonary hypertension
  2. bPAWP >15 mmHg together with mPAP ≥25 mmHg characterises post-capillary PH due to left heart disease; PAWP ≤15 mmHg together with mPAP ≥25 mmHg characterizes pre-capillary PH
  3. csPAP >40 mmHg at rest and sPAP >45 mmHg at low workloads is considered here as abnormal and exercise induced pulmonary hypertension, respectively [27]. However, cut-offs are not clearly defined in current guidelines
  4. mPAP, (sPAP) mean (systolic) pulmonary arterial pressure, PAWP pulmonary arterial wedge pressure, CO cardiac output, CI cardiac index, SaO 2 oxygen saturation, VO 2 oxygen uptake, PVR pulmonary vascular resistance, RV right ventricular, TAPSE tricuspid annular plane systolic excursion, DLCO diffusion capacity of the lung for carbon monoxide, NT-proBNP N-type pro brain natriuretic peptide, 6-MWD 6 min walking distance