Familial cerebral aneurysms: a study of 13 families

Neurosurgery. 1995 Oct;37(4):633-8; discussion 638-9. doi: 10.1227/00006123-199510000-00005.

Abstract

Despite the recent interest in familial cerebral aneurysms, the epidemiology, natural history, pattern of inheritance, screening of asymptomatic relatives, and the search for a biochemical marker remain problematic. To assess these issues, we report the results of our prospective study of 30 patients with 38 aneurysms (27 ruptured) and of the angiographic screening of asymptomatic relatives, all from 13 families seen consecutively since 1986. Women were over-represented (77%), and patients with multiple aneurysms (17%) were under-represented, compared with sporadic cases. Only 16% of the aneurysms were at the anterior communicating artery. Aneurysms occurred at the same or at the mirror site in 10 of 16 siblings (62%) and in 50% of mother-daughter pairs versus 20% for randomly selected, sporadic aneurysm patients. Rupture occurred in the same decade in 10 of 12 siblings (83%) versus the expected 21% for randomly selected, sporadic aneurysms. The average age at rupture was 47.2 years, and 60% of patients with a ruptured aneurysm were 50 years of age or younger. Seventy percent of patients died or were disabled from aneurysmal rupture. Screening of 41 individuals, including 2 dizygous twins, identified 1 aneurysm and 2 infundibula. A specific pattern of inheritance could not be ascertained from the pedigrees. The presence of an aneurysm was not associated with a specific human leukocyte antigen haplotype or antigen, and collagen Type III was qualitatively and quantitatively normal. Until a biological marker is identified, angiographic screening by intra-arterial digital subtraction or magnetic resonance angiography remains the only way to identify patients at risk of harboring a familial cerebral aneurysm.

MeSH terms

  • Adult
  • Aged
  • Aneurysm, Ruptured / diagnostic imaging
  • Aneurysm, Ruptured / genetics*
  • Aneurysm, Ruptured / surgery
  • Cerebral Angiography
  • Diseases in Twins / genetics
  • Female
  • Genetic Markers / genetics
  • Genetic Testing
  • Humans
  • Intracranial Aneurysm / diagnostic imaging
  • Intracranial Aneurysm / genetics*
  • Intracranial Aneurysm / surgery
  • Male
  • Middle Aged
  • Pedigree
  • Risk Factors
  • Twins, Dizygotic / genetics

Substances

  • Genetic Markers