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Table 5 Genotype-phenotype correlation between PAH patients with and without a BMPR2 mutation

From: Genetic analyses in a cohort of 191 pulmonary arterial hypertension patients

Characteristic PAH with a BMPR2 mutation PAH without a BMPR2 mutation P value
Age at diagnosis, y 27.2 ± 9.9 31.6 ± 10.5 0.0003
Female sex 38 (67.9%) 99 (76.7%)  
NYHA I-II 27 (48.2%) 56 (43.4%)  
NYHA III 28 (50.0%) 67 (51.9%)  
NYHA IV 1 (1.8%) 6 (4.7%)  
Hemodynamics at diagnosis
RAP, mmHg 5.1 ± 4.4 5.1 ± 4.2 ns
mPAP, mmHg 60.2 ± 15.3 54.9 ± 14.7 0.0321
PVR, dyn*s*cm−5 1386.2 ± 641.4 1042.1 ± 417.0 0.0024
PAWP, mmHg 6.9 ± 3.5 7.2 ± 3.5 ns
CI, L/min/m2 2.6 ± 0.9 3.0 ± 0.9 0.0017
SvO2, % 64.8 ± 8.1 69.4 ± 6.6 0.0005
Peak VO2, ml/min/Kg 11.7 ± 2.7 13.9 ± 3.6 0.0096
6-min walk distance, m 396.8 ± 106.1 427.0 ± 97.7 ns
NT-proBNP, pg/ml 1432.1 ± 1326.2 1327.4 ± 1283.9 ns
  1. Values are mean ± SD or n (%). NYHA New York Heart Association functional class, RAP right atrial pressure, mPAP mean pulmonary artery pressure, PVR pulmonary vascular resistance, PAWP pulmonary artery wedge pressure, CI cardiac index, SvO 2 mixed venous oxygen saturation, Peak VO 2 peak oxygen consumption, NT-proBNP N-terminal pro–B-type natriuretic peptide, ns no significance