Table 1

Clinical features and mutations in probands with both pulmonary hypertension (PH) and hereditary haemorrhagic telangiectasia (HHT)

	Family No. of proband
	60	82	91	100
Sex	F	M	F	F
Known HHT features
Family history of HHT	+	+	+	+
Epistaxis	+	+	+	+
Telangiectasia	+	+	+	+
Pulmonary AVM	–	NK	–	+
Hepatic AVM	NK	NK	+	+
Other AVM	NK	NK	GI	GI
Known PH features
Age at onset yrs	8	20s	43	18
Family history of PPH	+	–	–	–
Right heart catheterisation
Mean P_pa mmHg	38	NK	50	65
Mean P_ra mmHg	1	NK	14	7
CI L·min⁻¹·m⁻²	4.0	NK	2.8	2.2
PVRI µ·m⁻²	8	NK	14	44
SVRI µ·m⁻²	14	NK	24	25
S_v,O₂ %	82	NK	56	50
S_a,O₂ %	99	NK	100	78
Acute vasodilator testing	NR	NK	NR	NR
Epoprostenol therapy	+	+	+	+
Outcome/age yrs	Alive/11	Dead/29	Dead/51	Dead/20
ALK‐1 mutation
Exon	10	10	8^¶	10
Nucleic acid change^#	1450C>T, 1450_1451insG	1435C>T	1120C>T	1385C>G
Amino acid position	R484WfsX493	R479X	R374W	S462X
Type of mutation	Insertion	Nonsense	Missense	Nonsense
BMPR2 mutation
Presence/absence	–	–	–	–