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

Respiratory Research

Table 1 Clinical parameters

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	–

^amPAP ≥25 mmHg characterises pulmonary hypertension
^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
^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
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

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