St Antonius Hospital, Nieuwegein, the Netherlands | Maggiore Hospital, Crema, Italy | |
Persons | 497 (64.4) | 275 (35.6) |
Age years mean±sd | 44.8±15.5 | 46.6±15.2 |
Sex | ||
Females | 296 (59.6) | 153 (55.6) |
Males | 201 (40.4) | 122 (44.4) |
HHT | ||
Definite | 428 (86.1) | 260 (94.5) |
Possible | 69 (13.9) | 15 (5.5) |
Genetic testing | ||
HHT1 | 177 (35.6) | 47 (17.1) |
HHT2 | 208 (41.9) | 97 (35.3) |
SMAD4 | 9 (1.8) | 1 (0.4) |
Unknown# | 103 (20.7) | 130 (47.2) |
Pulmonary shunt on TTCE | ||
No shunt | 196 (39.4) | 66 (24.0) |
Grade 1 | 109 (21.9) | 92 (33.5) |
Grade 2 | 76 (15.3) | 74 (26.9) |
Grade 3 | 116 (23.4) | 43 (15.6) |
PAVM on chest CT | 158 (31.8) | 90 (32.7) |
Transcatheter embolotherapy performed n/N (%) | 92/158 (58.2) | 69/90 (76.7) |
Data are presented as n (%), unless otherwise stated. HHT: hereditary haemorrhagic telangiectasia; TTCE: transthoracic contrast echocardiography; PAVM: pulmonary arteriovenous malformation; CT: computed tomography. #: unknown family mutation or genetic testing not performed.