Familial intracranial aneurysms

Ronkainen, Antti; Hernesniemi, Juha; Puranen, M; Niemitukia, Lea; Vanninen, Ritva; Ryynänen, Markku; Kuivaniemi, Helena; Tromp, Gerard

doi:10.1016/s0140-6736(97)80009-8

Cited by 259 publications

(128 citation statements)

References 28 publications

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“…Patients were screened if > 30 years of age and if they were an FDR of someone with an IA. 13 As was the case in the current study, most of the aneurysms detected were small. In the earlier study, 41 (66.1%) of 62 aneurysms confirmed on DS angiography were ≤ 6 mm in diameter, and 17 were > 7 mm in size.…”

supporting

confidence: 67%

“…The overall frequency of false positives (or false negatives) in this study is unknown because arteriographic confirmation was not completed. In another familial IA screening study, 13 of the 43 DS angiograms performed to confirm the MR angiography findings, 7 (16%) of 43 were negative, with the suspected IA later found to be a vessel loop. It is noteworthy that the prior study was performed > 10 years ago and that current MR angiography screening probably has a higher specificity and sensitivity, 5,6 even for very small aneurysms.…”

Section: Discussionmentioning

confidence: 98%

“…Several uncommon heritable disorders are associated with brain aneurysms, including autosomal-dominant polycystic kidney disease, 3 Marfan syndrome, 17 Ehlers-Danlos syndrome Type IV, 4 hereditary hemorrhagic telangiectasia, 11 pseudoxanthoma elasticum, multiple endocrine neoplasia Type I, and neurofibromatosis Type 1. 16 Outside of these rare heritable disorders, population-based 8,18 and nonpopulationbased 10,[12][13][14] data suggest that there is an increased occurrence of IA and SAH in first-and second-degree relatives of those with SAH, with the highest risk being noted in siblings. Selected factors such as older age, female sex, history of hypertension, higher lipid levels, and elevated blood glucose have been suggested to increase the possibility of aneurysm detection in this setting.…”

mentioning

confidence: 99%

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Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Brown

Huston

Hornung

et al. 2008

JNS

104

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Object-Approximately 20% of patients with an intracranial saccular aneurysm report a family history of intracranial aneurysm (IA) or subarachnoid hemorrhage. A better understanding of predictors of aneurysm detection in familial IA may allow more targeted aneurysm screening strategies. Methods-TheFamilial Intracranial Aneurysm (FIA) study is a multicenter study, in which the primary objective is to define the susceptibility genes related to the formation of IA. First-degree relatives (FDRs) of those affected with IA are offered screening with magnetic resonance (MR) angiography if they were previously unaffected, are ≥ 30 years of age, and have a history of smoking and/or hypertension. Independent predictors of aneurysm detection on MR angiography were determined using the generalized estimating equation version of logistic regression.Results-Among the first 303 patients screened with MR angiography, 58 (19.1%) had at least 1 IA, including 24% of women and 11.7% of men. Ten (17.2%) of 58 affected patients had multiple aneurysms. Independent predictors of aneurysm detection included female sex (odds ratio [OR] 2.46, p = 0.001), pack-years of cigarette smoking (OR 3.24 for 20 pack-years of cigarette smoking compared with never having smoked, p < 0.001), and duration of hypertension (OR 1.26 comparing those with 10 years of hypertension to those with no hypertension, p = 0.006).Conclusions-In the FIA study, among the affected patients' FDRs who are > 30 years of age, those who are women or who have a history of smoking or hypertension are at increased risk of suffering an IA and should be strongly considered for screening. To clarify further the occurrence of IA detection on brain MR angiography studies in families with several members affected, we report the initial results of MR angiography screening of FDRs-siblings, parents, and children-of those affected with an IA in a multicenter study of familial IA. We also report the predictors of IA detection on brain MR angiography among these FDRs. Clinical Materials and MethodsThe FIA study is an international, multicenter study including 26 clinical centers, which represents 41 recruitment sites in North America, New Zealand, and Australia. 2 The study was approved by the institutional review board/ethics committee at each of the study centers and recruitment sites.Families with multiple members in whom IAs were diagnosed were enrolled to identify the chromosomal regions associated with an increased risk of IA and to determine the effects of environmental factors on the expression of genes within these regions. Individuals with either ruptured or unruptured IAs were considered to have the phenotype. Patients were excluded if they had a fusiform IA; an intranidal aneurysm with an arteriovenous malformation; a family history of polycystic kidney disease, Ehlers-Danlos syndrome, Marfan syndrome, fibromuscular dysplasia, or moyamoya syndrome; or if informed consent could not be obtained from the patient or family members.Detailed medical records and the informa...

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supporting

confidence: 67%

Section: Discussionmentioning

confidence: 98%

mentioning

confidence: 99%

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Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Brown

Huston

Hornung

et al. 2008

JNS

104

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“…The prevalence of intracranial aneurysms among first-degree relatives of patients with cerebral aneurysms is higher than in the general population. The risk for a first-degree relative harbouring an aneurysm is about three to four times higher than for someone from the general population ( Raaymakers 1999;Ronkainen et al 1997).…”

Section: General Considerationsmentioning

confidence: 99%

Biomechanical Factors Analysis in Aneurysm

Bessa¹,

Legendre²,

Prakasan³

2012

Fluid Dynamics, Computational Modeling and Applications

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“…Familial IA is not rare, accounting for 7-20% of patients with aneurysmal SAH (7). The risk of experiencing unruptured IAs is significantly higher (~4 times) in familial IA families than in the general population (8). Furthermore, certain genetic factors have been investigated and identified to be associated with IA (9-13), including angiotensin-converting enzyme (ACE).…”

Section: Introductionmentioning

confidence: 99%

Association between angiotensin-converting enzyme insertion/deletion polymorphisms and intracranial aneurysm susceptibility: A meta-analysis

et al. 2017

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Abstract.Various studies have evaluated the association between polymorphisms of angiotensin-converting enzyme (ACE) and intracranial aneurysm (IA) risk; however, the results remain inconsistent. The PubMed, Embase, and Wanfang Data databases were systematically searched until January 6th 2016. Case-control studies investigating the association between the ACE polymorphism and IA risk were included. Odds ratios (ORs) with 95% confidence intervals (CIs) were calculated with the fixed or random-effects model assuming allele, homozygote comparison of codominant, heterozygote comparison of codominant, dominant, and recessive models. Seven studies including 1,074 cases and 1,500 controls were included in the current meta-analysis. The results of the analysis indicated that the ACE polymorphism significantly increased IA risk in the allele, homozygote comparison of codominant and dominant models. According to the further stratified analysis by ethnicity, source of control and sample sizes, a significant association was identified between the ACE variant and IA risk in Asian individuals, hospital-based, or large (>300) subgroups in all of the genetic models, not including the recessive model. Furthermore, no significantly increased risk was indicated in Caucasian individuals, population-based, or small (<300) subgroups in the heterozygote comparison of codominant, dominant and recessive models. The available evidence indicates that the ACE polymorphism is associated with an increased risk of IA, particularly in Asian individuals. However, other factors may impact this association. Further large, well-designed multicenter studies are required to validate the findings from the present study.

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Familial intracranial aneurysms

Cited by 259 publications

References 28 publications

Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Screening for brain aneurysm in the Familial Intracranial Aneurysm study: frequency and predictors of lesion detection

Biomechanical Factors Analysis in Aneurysm

Association between angiotensin-converting enzyme insertion/deletion polymorphisms and intracranial aneurysm susceptibility: A meta-analysis

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