TABLE 2.

Clinical characteristics of the five affected BMPR2 mutation carriers (AMCs) studied in the nested case–control cohort study

	AMC 1	AMC 2	AMC 3	AMC 4	AMC 5
Diagnosis age yrs	31	36	64	53	43
Current age yrs	31	52	74	57	48
Current BMI kg·m−2	21.6	22.0	19.4	29.9	23.9
Age at menarche yrs	12	12	13.5	11.5	12
Pregnancies n	3	3	11	1	2
Offspring n	3	3	7	1	2
Menopause status	Pre	Post	Post	Post	Pre
OCP or HRT at diagnosis	No	Yes	Yes	No	No
NYHA functional class at diagnosis	3	2	2	2	3
Baseline haemodynamic data at diagnosis
Right atrial pressure mmHg	1	1	5	1	2
P̄pa mmHg	59	46	46	44	48
Cardiac index L·min·m−2	1.65	2.4	1.6	4.2	2.08
Indexed PVR U·m2	18.01	11	24	10.3	10.8
Responsive to acute vasodilator challenge	No	No	No	No	No
PAH-specific therapies
Prostanoids	Yes	Yes	Yes	Yes	No
Phosphodiesterase-5 inhibitors	Yes	No	Yes	No	No
Endothelin receptor antagonists	No	No	No	Yes	Yes

BMI: body mass index; OCP: oral contraceptive pill; HRT: hormone replacement therapy; NYHA: New York Heart Association; P̄_pa: mean pulmonary artery pressure; PVR: pulmonary vascular resistance; PAH: pulmonary arterial hypertension.