Table 2—

Clinical characteristics of the five affectedBMPR2 mutation carriers (AMCs) studied in the nested case–control cohort study

AMC 1AMC 2AMC 3AMC 4AMC 5
Diagnosis age yrs3136645343
Current age yrs3152745748
Current BMI kg·m−221.622.019.429.923.9
Age at menarche yrs121213.511.512
Pregnancies n331112
Offspring n33712
Menopause statusPrePostPostPostPre
OCP or HRT at diagnosisNoYesYesNoNo
NYHA functional class at diagnosis32223
Baseline haemodynamic data at diagnosis
 Right atrial pressure mmHg11512
pa mmHg5946464448
 Cardiac index L·min·m−21.652.41.64.22.08
 Indexed PVR U·m218.01112410.310.8
 Responsive to acute vasodilator challengeNoNoNoNoNo
PAH-specific therapies
 ProstanoidsYesYesYesYesNo
 Phosphodiesterase-5 inhibitorsYesNoYesNoNo
 Endothelin receptor antagonistsNoNoNoYesYes
  • BMI: body mass index; OCP: oral contraceptive pill; HRT: hormone replacement therapy; NYHA: New York Heart Association; pa: mean pulmonary artery pressure; PVR: pulmonary vascular resistance; PAH: pulmonary arterial hypertension.