Familial intracranial aneurysm and infundibular widening

Patrick, D. W.; Appleby, Arnold P.

doi:10.1007/bf00439213

Cited by 27 publications

(4 citation statements)

References 14 publications

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“…It has therefore been suggested, that familial aneurysms may be a distinct saccular aneurysm entity (87). In familial cases an autoso-ma1 dominant transmission has been postulated (85,88).…”

Section: Genetic Factorsmentioning

confidence: 99%

Risk factors in intracranial saccular aneurysms Aspects on the formation and rupture of aneurysms, and development of cerebral vasospasm

Østergaard

1989

Acta Neurologica Scandinavica

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Intracranial saccular aneurysms have been a well-known clinical and pathological entity for over two centuries. The pathophysiological events that lead to aneurysm formation and rupture are, however, poorly understood. Besides an HLA-associated genetic factor, the most widely accepted risk factors are arterial hypertension, female gender, and increasing age. Some aneurysm patients have a deficient formation of Type III collagen. This seems to interfere with the mechanical integrity of the cerebral arterial wall encouraging aneurysm formation. While some of the risk factors may be involved in the process of aneurysm formation, others may be of importance in the actual aneurysm rupture. Medical and surgical developments have only had a slight impact on mortality rates from aneurysm rupture. The principal cause of death and disability is cerebral arterial spasm. Considerable effort has been expended in investigating the etiology of this phenomenon. Previous studies have failed to yield conclusive evidence of the causative agent(s) or the nature of cerebral artery narrowing. The time course of vasospasm after the onset of subarachnoid hemorrhage is consistent with an immune-mediated response, and more recent observations suggest that immunological processes including activation of the complement system may be involved. Missed minor bleeding episodes may thus be a risk factor for aneurysm patients in respect to the development of cerebral vasospasm.

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Section: Genetic Factorsmentioning

confidence: 99%

Risk factors in intracranial saccular aneurysms Aspects on the formation and rupture of aneurysms, and development of cerebral vasospasm

Østergaard

1989

Acta Neurologica Scandinavica

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“…Comparison of the data on IA of the middle cerebral artery (MCA) and vertebrobasilar system clearly shows a difference of incidence between the 0-5 years age group (44°/0 and 28°/0 respectively) and oider children and adults (19.8°/0 and 5.3 0 10 respectively) ( Table 11). In the five known cases of familial IA in childhood two were localised at the anterior communicating artery (12, 31), one at the vertebral artery (15), one at the posterior communicating artery (52); in one case the localisation is unknown (46). In our Cases IV-7 and 111-15, aged four and 15 years, the IA's were localised at the MCA and ICA respectively.…”

Section: Discussionmentioning

confidence: 53%

“…Familial IA's have a tendency to rupture at a significantly earlier age than those in the general population (52). The peak incidence of familial IA and of IA in the general population is in the age group 30-39 years and 50-54 years respectively (26,41,52). The occurrence offamilial IA at young age suggests an inherited etiology.…”

Section: Discussionmentioning

confidence: 94%

Familial Occurrence of Intracranial Aneurysms in Childhood:A Case Report and Review of the Literature

Berg¹,

Bijlsma²,

Willemse³

1987

Neuropediatrics

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This report describes three individuals belonging to one family, who were affected with ruptured intracranial aneurysms (IAs) at a rather young age, 4, 15 and 23 years respectively. Familial IAs at this young age have not been described before. The evidence for a developmental, eventually inherited origin of familial IA in childhood is discussed with reference to the low occurrence of non-familial IA in childhood, IA-features in non-familial cases (localisation, multiplicity, size) and the association with (other) congenital malformations in the 0-5 years group.

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“…An aggregation of aneurysms within certain families has been well documented (Beumont 1968, Fox & KO 1980, Patrick & Appleby 1983. The location and age of occurrence of these familial aneurysms are, however, different from that of the general aneurysm popula-tion, and it has been suggested that familial aneurysms may be a distinct subpopulation of saccular aneurysms (Andrews 1977).…”

mentioning

confidence: 99%

HLA antigens and complement types in patients with intracranial saccular aneurysms

1986

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The occurrence of HLA-A, -B, -C antigens and the HLA controlled complement factors (Bf, C2, C4) was investigated in an unselected group of 116 consecutively admitted patients with intracranial saccular aneurysms, and compared to that of healthy controls (blood donors). When multiplying the p-values with the number of comparisons made, none remained significant. However, a rather high etiologic fraction of the BfS gene (0.59) was obtained. Moreover, for HLA -B7 a significant deviation from the Hardy-Weinberg equilibrium with an increase of homozygotes was found. Due to linkage disequilibria this could indicate a strong association between HLA-DR2 and saccular aneurysms. The presence of HLA-DR2 was therefore investigated in a series of 15 aneurysm patients used as cadaver kidney donors and not included among the 116 consecutively admitted patients. In this group the HLA-DR2 antigen frequency was significantly increased (66.7% vs. 29.7%, p <0.01). The present study thus demonstrates an association of saccular aneurysm and the major histocompatibility complex and shows the existence of a genetic predisposition to saccular aneurysm.

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Familial intracranial aneurysm and infundibular widening

Cited by 27 publications

References 14 publications

Risk factors in intracranial saccular aneurysms Aspects on the formation and rupture of aneurysms, and development of cerebral vasospasm

Risk factors in intracranial saccular aneurysms Aspects on the formation and rupture of aneurysms, and development of cerebral vasospasm

Familial Occurrence of Intracranial Aneurysms in Childhood:A Case Report and Review of the Literature

HLA antigens and complement types in patients with intracranial saccular aneurysms

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