| 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 Ppa mmHg | 38 | NK | 50 | 65 |
Mean Pra 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 |
Sv,O2 % | 82 | NK | 56 | 50 |
Sa,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 | – | – | – | – |