Asymptomatic Familial Cerebral Aneurysms

Kojima, Masayasu; Nagasawa, S; Lee, Young‐Eun; Takeichi, Yasuhiro; Tsuda, Eimei; Mabuchi, Nobuhisa

doi:10.1097/00006123-199810000-00026

Cited by 76 publications

(23 citation statements)

References 17 publications

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“…In second-degree relatives, the incidence of SAH is similar to that found in the general population (Bromberg et al 1995). It has also been shown that the prevalence of unruptured IA is significantly higher (10.5-13.5%) in a Japanese subgroup with a family history of IA Kojima et al 1998). The prevalence of harboring an IA within the population aged over 30 years is between 3.6 and 6.5% (Ujiie et al 1993;Yamaki et al 1994;Iwamoto et al 1999;Wardlaw and White 2000).…”

Section: Pathology Epidemiology and Etiologysupporting

confidence: 73%

The genetics of intracranial aneurysms

Krischek

Inoue

2006

J Hum Genet

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The rupture of an intracranial aneurysm (IA) leads to a subarachnoid hemorrhage, a sudden onset disease that can lead to severe disability and death. Several risk factors such as smoking, hypertension and excessive alcohol intake are associated with subarachnoid hemorrhage. IAs, ruptured or unruptured, can be treated either surgically via a craniotomy (through an opening in the skull) or endovascularly by placing coils through a catheter in the femoral artery. Even though the etiology of IA formation is mostly unknown, several studies support a certain role of genetic factors. In reports so far, genome-wide linkage studies suggest several susceptibility loci that may contain one or more predisposing genes. Studies of several candidate genes report association with IAs. To date, no single gene has been identified as responsible for IA formation or rupture. The identification of susceptible genes may lead to the understanding of the mechanism of formation and rupture and possibly lead to the development of a pharmacological therapy.

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Section: Pathology Epidemiology and Etiologysupporting

confidence: 73%

The genetics of intracranial aneurysms

Krischek

Inoue

2006

J Hum Genet

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“…Eight of 70 patients had a family history, and 4 of 28 patients with aneurysm growth had a family history, suggesting that family history was not significant (11). The prevalence of asymptomatic aneurysms in families with aneurysmal SAH was 4.3% and significantly lower than that in the families without aneurysmal SAH, suggesting that asymptomatic aneurysms are more likely to rupture in patients with familial aneurysmal SAH, and, because familial aneurysms are more likely to rupture at smaller size and younger age than nonfamilial aneurysms (14), great care must be taken to monitor changes in size at regular intervals (13).…”

Section: Discussionmentioning

confidence: 99%

Risk Factors for Growth of Unruptured Intracranial Aneurysms: Follow-up Study by Serial 0.5–T Magnetic Resonance Angiography

2006

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“…Furthermore, aneurysms that do rupture tend to rupture at a younger age and at a smaller diameter among patients with FIA (Bacigaluppi et al 2013; Broderick et al 2009; Lozano and Leblanc 1987). Along with the increased risk for aneurysm formation and rupture, patients with FIA appear to have a poorer outcome after rupture (Bromberg et al 1995; Kojima et al 1998). Generally, screening with magnetic resonance angiography (MRA) or computerized tomographic angiography (CTA) is recommended for individuals with two or more first-degree relatives diagnosed with intracranial aneurysms (Bor et al 2010, 2014; Brisman et al 2006; Brown et al 2008; Ronkainen et al 1998; Thompson et al 2015).…”

Section: Introductionmentioning

confidence: 99%

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

Hitchcock

Gibson

2016

Journal of Genetic Counseling

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Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family. Studies using linkage analysis, genome-wide association, and next-generation sequencing have found several candidate loci and genes associated with disease onset, but have not conclusively implicated a single gene. In addition to family history, a separate or concurrent diagnosis of autosomal dominant polycystic kidney disease is a strong genetic risk factor for IBA formation. We also discuss the relative risk for developing IBA in several Mendelian syndromes including vascular Ehlers-Danlos syndrome, Marfan syndrome, Neurofibromatosis Type I, and Loeys–Dietz syndrome.

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Asymptomatic Familial Cerebral Aneurysms

Abstract: The prevalence of aneurysms is significantly elevated in family members of people with asymptomatic aneurysms. It is suggested that familial asymptomatic aneurysms are more likely to rupture in families having members with aneurysmal subarachnoid hemorrhage than in those without.

Cited by 76 publications

References 17 publications

The genetics of intracranial aneurysms

The genetics of intracranial aneurysms

Risk Factors for Growth of Unruptured Intracranial Aneurysms: Follow-up Study by Serial 0.5–T Magnetic Resonance Angiography

A Review of the Genetics of Intracranial Berry Aneurysms and Implications for Genetic Counseling

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