Table 3.
Prevalence of intracranial aneurysms in selected syndromes and their associated gene(s)
| Relative Prevalence | Syndrome | OMIM Number(s) | Prevalence of patients with IBA | Associated Genes |
|---|---|---|---|---|
| Frequent | Autosomal Dominant Polycystic Kidney Disease | 173,900 613,095 |
4–17 % | PKD1, PKD2 |
| Infrequent | Vascular Ehlers-Danlos Syndrome | 130,050 | 12%a | COL3A1 |
| Loeys-Dietz Syndrome | 609,192 610,168 |
11–28 %a | TGFBR1, TFGBR2, SMAD3 b | |
| Marfan Syndrome | 154,700 | 14%a | FBN1 | |
| Neurofibromatosis Type I | 162,200 | 9–11 %a | NF1 | |
| Rare c | Pseudoxanthoma Elasticum | 264,800 | - | ABCC6 |
| Hereditary Hemorrhagic Telangiectasia | 187,300 | ~10%d | ENG | |
| Multiple Endocrine Neoplasia Type I | 131,100 | - | MEN1 |
aPrevalence estimates may be influenced by selection bias and the inclusion of both fusiform and berry aneurysms
bPathogenic variants in TGFB2 and TGFB3 also account for <5 % of LDS cases
cIndividual case reports only
dAs the prevalence of IBA in HHT patients is unknown, the prevalence of arteriovenous malformations, which can also lead to cerebral hemorrhage, has been given