Table 3.
Percentage of vascular malformations (PAVM, HAVM, and CAVM) in HHT1 (A) and HHT2 (B) in the six different studies published on genotype–phenotype correlation in HHT.
| Type of AVM (%) | Present study | Berg et al. (8) | Kjeldsen et al. (9) | Bayrak-Toydemirv et al. (10) | Letteboer et al. (11) | Lesca et al. (12) |
|---|---|---|---|---|---|---|
| A: HHT1 | ||||||
| Pulmonary | 60 | 35 | 46 | 59 | 49 | 59 |
| Hepatic | 0 | 5 | NR | 2 | 8 | 2 |
| Cerebral | 0 | 8 | 2 | 16 | NR | 16 |
| B: HHT2 | ||||||
| Pulmonary | 8 | 0 | 13 | 39 | 5 | 29 |
| Hepatic | 38 | 6 | NR | 28 | 41 | 28 |
| Cerebral | 0 | 3 | 4 | 2 | NR | 2 |
AVM: arterio-venous malformation; CAVM: cerebral AVM; HAVM: hepatic AVM; HHT: hereditary haemorrhagic telangiectasia; NR: not reported; PAVM: pulmonary AVM.