scholarly journals Is there an inherited anatomical conformation favoring aneurysmal formation of the anterior communicating artery?

2017 ◽  
Vol 126 (5) ◽  
pp. 1598-1605 ◽  
Author(s):  
Romain Bourcier ◽  
Cédric Lenoble ◽  
Béatrice Guyomarch-Delasalle ◽  
Benjamin Daumas-Duport ◽  
Chrysanthi Papagiannaki ◽  
...  
Keyword(s):  
Family History ◽  
Intracranial Aneurysms ◽  
Mr Angiography ◽  
Anatomical Variations ◽  
3D Models ◽  
Contralateral Side ◽  
Current Evidence ◽  
Anterior Communicating Artery ◽  
History Of ◽  
Hereditary Character

OBJECTIVEThe pathophysiological mechanisms responsible for the formation of intracranial aneurysms (IAs) remain only partially elucidated. However, current evidence suggests a genetic component. The purpose of this study was to investigate the specific anatomical variations in the arterial complex that are associated with the presence of anterior communicating artery (ACoA) aneurysms in the familial forms of IAs.METHODSThis multicenter study investigated bifurcation IAs in patients who had a sporadic ACoA IA without a family history of IA (SACAA group), in patients who had an ACoA IA with a family history of IA (FACAA group), and in their healthy first-degree relatives (HFDRs). Through the use of MR angiography (MRA) reconstructions, the symmetry of the A1 segments and the angle between the A1 and A2 segments were analyzed on 3D models for each group. These measurements were then compared among the 3 groups.RESULTSTwenty-four patients with SACAA, 24 patients with FACAA, and 20 HFDRs were included in the study. Asymmetrical configuration of the A1 segments was more frequent in the FACAA group than in the HFDR group (p = 0.002). The aneurysm-side A1–A2 angle was lower in the FACAA group (p = 0.003) and SACAA group (p = 0.007) than in the HFDR group. On the contralateral side, there was no difference in A1–A2 angles between groups.CONCLUSIONSThe anatomical shape of the ACoA complex seems to be similarly associated with the presence of ACoA IAs in both the FACAA and SACAA groups. This highlights the role played by hemodynamic constraints in aneurysm formation and questions the hypothesis of the hereditary character of these anatomical shapes.

Current implications for the efficacy of noninvasive screening for occult intracranial aneurysms in patients with a family history of aneurysms

1995 ◽  
Vol 83 (1) ◽  
pp. 42-49 ◽  
Author(s):  
Nancy A. Obuchowski ◽  
Michael T. Modic ◽  
Michele Magdinec
Keyword(s):  
Family History ◽  
Natural History ◽  
Life Expectancy ◽  
Intracranial Aneurysms ◽  
Positive Family History ◽  
Aneurysm Rupture ◽  
Average Life Expectancy ◽  
Content Type ◽  
Rupture Rate ◽  
History Of

✓ Although the technology exists for accurate noninvasive screening for intracranial aneurysms, the efficacy of screening depends on several key parameters of the natural history of aneurysms. Recent studies suggest that the prevalence of intracranial aneurysms may reach 20% in the subpopulation of patients with a family history of these lesions; other key parameters are less certain. The authors investigated factors that impact the efficacy of screening to establish interim guidelines. Three plausible models for the natural history of aneurysms were constructed. For each model the monetary cost of screening and the average gain in life expectancy were computed for a range of screening ages and prevalence rates. It is shown that the efficacy of screening depends on the pattern of aneurysm rupture. If aneurysms develop and rupture rapidly, then screening has no benefit. On the other hand, if aneurysms remain at risk for some time after formation, then screening may improve average life expectancy depending on when it occurs. The authors recommend that patients with a positive family history of aneurysms who are 30 years of age or younger be screened. This recommendation is based on the belief that the gains attributable to screening, assuming a constant rupture rate, outweigh the losses attributable to screening using a decreasing rupture rate model.

Hereditary lobular breast cancer with an emphasis on E-cadherin genetic defect

2018 ◽  
Vol 55 (7) ◽  
pp. 431-441 ◽  
Author(s):  
Giovanni Corso ◽  
Joana Figueiredo ◽  
Carlo La Vecchia ◽  
Paolo Veronesi ◽  
Gabriella Pravettoni ◽  
...  
Keyword(s):  
Breast Cancer ◽  
Family History ◽  
Age At Onset ◽  
Genetic Defect ◽  
Prophylactic Surgery ◽  
Current Evidence ◽  
Diffuse Gastric Cancer ◽  
Lobular Breast Cancer ◽  
Clinicopathological Findings ◽  
History Of

Recent studies have reported germline CDH1 mutations in cases of lobular breast cancer (LBC) not associated with the classical hereditary diffuse gastric cancer syndrome. A multidisciplinary workgroup discussed genetic susceptibility, pathophysiology and clinical management of hereditary LBC (HLBC). The team has established the clinical criteria for CDH1 screening and results’ interpretation, and created consensus guidelines regarding genetic counselling, breast surveillance and imaging techniques, clinicopathological findings, psychological and decisional support, as well as prophylactic surgery and plastic reconstruction. Based on a review of current evidence for the identification of HLBC cases/families, CDH1 genetic testing is recommended in patients fulfilling the following criteria: (A) bilateral LBC with or without family history of LBC, with age at onset <50 years, and (B) unilateral LBC with family history of LBC, with age at onset <45 years. In CDH1 asymptomatic mutant carriers, breast surveillance with clinical examination, yearly mammography, contrast-enhanced breast MRI and breast ultrasonography (US) with 6-month interval between the US and the MRI should be implemented as a first approach. In selected cases with personal history, family history of LBC and CDH1 mutations, prophylactic mastectomy could be discussed with an integrative group of clinical experts. Psychodecisional support also plays a pivotal role in the management of individuals with or without CDH1 germline alterations. Ultimately, the definition of a specific protocol for CDH1 genetic screening and ongoing coordinated management of patients with HLBC is crucial for the effective surveillance and early detection of LBC.

scholarly journals Demographic, Clinical, and Radiographic Characteristics of Cerebral Aneurysms in Tuberous Sclerosis Complex

2020 ◽  
Author(s):  
Mehdi Chihi ◽  
Ulrich Sure ◽  
Ramazan Jabbarli
Keyword(s):  
Systematic Review ◽  
Magnetic Resonance ◽  
Tuberous Sclerosis ◽  
Tuberous Sclerosis Complex ◽  
Intracranial Aneurysms ◽  
Mr Angiography ◽  
Cerebral Aneurysms ◽  
Consensus Conference ◽  
Current Evidence ◽  
Recent Systematic Review

To date, little is known on the prevalence, incidence, and characteristics of intracranial aneurysms (IA) in patients with tuberous sclerosis complex (TSC). Based on our recent systematic review and two cases treated in our institute, we summarize the current evidence concerning the distinct characteristics of these aneurysms. In contrast to saccular IA in healthy adults, IA in TSC present commonly with large or even giant sac size and fusiform configuration, location predilection on the internal carotid artery remote from the branching zones, remarkable higher prevalence of pediatric cases, inverted sex-ratio, and suspected rapid growth. Although the pathogenesis of IA in TSC is still unclear, all these features might point to the crucial role a congenital defect in the development of IA rather than extrinsic or environmental factors. Furthermore, we discuss the enhancement of the regular magnetic resonance (MR) imaging screening suggested by the last recommendations of the 2012 International TSC Consensus Conference with cranial time-of-flight MR angiography in order to enable timely identification and treatment of frequently complex IA in TSC.

Contralateral Approach to Internal Carotid Artery Ophthalmic Segment Aneurysms

Neurosurgery ◽  
2015 ◽  
Vol 77 (1) ◽  
pp. 104-112 ◽  
Author(s):  
Hugo Andrade-Barazarte ◽  
Juri Kivelev ◽  
Felix Goehre ◽  
Behnam Rezai Jahromi ◽  
Ferzat Hijazy ◽  
...  
Keyword(s):  
Carotid Artery ◽  
Internal Carotid Artery ◽  
Intracranial Aneurysms ◽  
Internal Carotid ◽  
Contralateral Side ◽  
Anterior Circulation ◽  
Anterior Clinoid Process ◽  
Contralateral Approach ◽  
History Of ◽  
Ophthalmic Segment Aneurysms

Abstract BACKGROUND: Contralateral aneurysm clipping can be applied to bilateral intracranial aneurysms of the anterior circulation and to selected aneurysms on the medial wall of the internal carotid artery (ICA). OBJECTIVE: To identify anatomic and radiological parameters that would favor a contralateral microsurgical approach to ICA–ophthalmic segment (ICA-opht) aneurysms. METHODS: For the period January 1957 to December 2012, we retrospectively analyzed 268 patients with ICA-opht aneurysms treated in our institution. Of these patients, 30 underwent a contralateral approach; 15 patients (50%) had multiple intracranial aneurysms, and 15 patients had a single aneurysm on the contralateral side of the craniotomy. RESULTS: Thirty saccular aneurysms located on the contralateral ICA were treated. Six aneurysms (20%) were present in patients with a subarachnoid hemorrhage due to associated aneurysms, whereas 24 aneurysms (80%) had no history of bleeding. Contralateral aneurysms were smaller than 14 mm and showed no wall irregularities, calcifications, or secondary pouches. Projections of the aneurysms were superomedial (n = 23, 77%), medial (n = 4, 13%), and superior (n = 3, 10%). The median prechiasmatic distance was 5.7 mm (range, 3.4–8.7 mm), the median interoptic distance was 10.5 mm (range, 7.6–15.9 mm), and the median distance between both ICAs was 14.7 mm (range, 10.4–21.4 mm). CONCLUSION: The contralateral approach for ICA-opht aneurysms remains a treatment option for intracranial aneurysms. Its feasibility depends on specific anatomic parameters related to the aneurysm itself and to the prechiasmatic distance, interoptic distance, and relationship of the ICA with the anterior clinoid process.

Familial Predisposition and Differences in Radiographic Patterns in Spontaneous Nonaneurysmal Subarachnoid Hemorrhage

Neurosurgery ◽  
2020 ◽  
Author(s):  
Pui Man Rosalind Lai ◽  
Isaac Ng ◽  
William B Gormley ◽  
Nirav J Patel ◽  
Kai U Frerichs ◽  
...  
Keyword(s):  
Subarachnoid Hemorrhage ◽  
Family History ◽  
Clinical Outcome ◽  
Intracranial Aneurysms ◽  
High Rate ◽  
Study Patient ◽  
Familial Predisposition ◽  
History Of ◽  
Nonaneurysmal Subarachnoid Hemorrhage ◽  
Patient Presentation

Abstract BACKGROUND Subarachnoid hemorrhage (SAH) from an intracranial aneurysmal rupture is the most common nontraumatic etiology for SAH, but up to 15% of patients with SAH have no identifiable source. OBJECTIVE To assess familial predisposition to spontaneous nonaneurysmal SAH (naSAH) and to evaluate whether family history affects the severity of presentation and prognosis of this condition. METHODS We conducted a retrospective analysis of all spontaneous SAH with negative digital subtraction angiography from 2004 to 2018. Patients were divided into 2 groups: patients with first- or second-degree relatives with intracranial aneurysms and patients with no family history. Univariate and multivariate regression analyses were used to study patient presentation, radiographic patterns of hemorrhage, and clinical outcome. RESULTS A total of 100 patients met the inclusion criteria. There were no individuals with family history of naSAH. A total of 15 patients (15%) had at least one family member with an intracranial aneurysm, of which 12 (12%) presented as SAH. Patients without family history had a higher percentage of perimesencephalic presentation, whereas those with family history had a higher percentage of nonperimesencephalic SAH presentation (47% vs 13%, odds ratio [OR] 0.17 [95% CI 0.04, 0.81]). CONCLUSION We found a high rate of family history of intracranial aneurysms in patients who presented with naSAH. Although there was no difference in clinical outcome in patients with and without family history, there appears to be a higher percentage of nonperimesencephalic radiographic patterns of SAH in those with family history, suggesting possible different etiologies of these hemorrhages.

Risk factors for the formation of multiple intracranial aneurysms

2001 ◽  
Vol 94 (5) ◽  
pp. 728-732 ◽  
Author(s):  
Habib E. Ellamushi ◽  
Joan P. Grieve ◽  
H. Rolf Jäger ◽  
Neil D. Kitchen
Keyword(s):  
Risk Factors ◽  
Family History ◽  
Cigarette Smoking ◽  
Cerebrovascular Disease ◽  
Intracranial Aneurysms ◽  
Content Type ◽  
Multiple Aneurysms ◽  
Female Patients ◽  
History Of ◽  
Fine Print

Object. Several factors are known to increase the risk of subarachnoid hemorrhage (SAH) and spontaneous intracerebral hematoma. However, information on the roles of these same factors in the formation of multiple aneurysms is less well defined. The purpose of this study was to examine factors associated with an increased risk of multiple aneurysm formation. Methods. A retrospective review of the medical records of all patients with a diagnosis of SAH and intracranial aneurysms who were admitted to a single institution between 1985 and 1997 was undertaken. The authors examined associations between risk factors (patient age and sex, menopausal state of female patients, hypertension, cigarette smoking, alcohol consumption, history of cardiovascular disease or diabetes mellitus, and family history of cerebrovascular disease) and the presence of multiple aneurysms by using the Fisher exact test and logistic regression analysis. Of 400 patients admitted with a diagnosis of cerebral aneurysms, 392 were included in the study (287 women and 105 men). Two hundred eighty-four patients harbored a single aneurysm and 108 harbored multiple aneurysms (2 aneurysms in 68 patients, three aneurysms in 22 patients, four aneurysms in 13 patients, and five aneurysms in five patients). Conclusions. Statistical analysis revealed that, as opposed to the occurrence of a single aneurysm, there was a significant association between the presence of multiple aneurysms and hypertension (p < 0.001), cigarette smoking (p < 0.001), family history of cerebrovascular disease (p < 0.001), female sex (p < 0.001), and postmenopausal state in female patients (p < 0.001).

scholarly journals ANGPTL6 genetic variants are an underlying cause of familial intracranial aneurysms

Neurology ◽  
2020 ◽  
pp. 10.1212/WNL.0000000000011125
Author(s):  
Isabel C Hostettler ◽  
Benjamin O’Callaghan ◽  
Enrico Bugiardini ◽  
Emer O’Connor ◽  
Jana Vandrovcova ◽  
...  
Keyword(s):  
Family History ◽  
Genetic Variants ◽  
Intracranial Aneurysms ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Small Subset ◽  
Missense Mutations ◽  
Class Iii ◽  
Exon 2 ◽  
History Of

Background and Purpose:To understand the role of the angiopoietin-like 6 gene (ANGPTL6) in intracranial aneurysms (IA) we investigated its role in a large cohort of familial IAs.Methods:Inclusion of individuals with family history of IA recruited to the Genetic and Observational Subarachnoid Haemorrhage (GOSH) study. The ANGPTL6 gene was sequenced using Sanger sequencing. Identified genetic variants were compared to a control population.Results:We found six rare ANGPTL6 genetic variants in 9/275 individuals with a family history of IA (3.3%), none of them were present in controls: Five missense and one nonsense mutation leading to a premature stop codon. One of these had been previously reported: c.392A>T (p.Glu131Val) on exon 2, another was very close: c.332G>A (p.Arg111His). Two further genetic variants lie within the fibrinogen-like domain of the ANGPTL6 gene, which may influence function or level of the ANGPTL6 protein. The last two missense mutations lie within the coiled-coil domain of the ANGPTL6 protein. All genetic variants were well conserved across species.Conclusion:ANGPTL6 genetic variants are an important cause of IA. Defective or lack of ANGPTL6 protein is therefore an important factor in blood vessel proliferation leading to IA; dysfunction of this protein is likely to cause abnormal proliferation or weakness of vessel walls. With these data, not only do we emphasise the importance of screening familial IA cases for ANGPTL6 and other genes involved in IA, but also highlight the ANGPTL6 pathway as a potential therapeutic target.Classification of Evidence:This is a Class III study showing some specificity of presence of the ANGPTL6 gene variant as a marker of familial intracranial aneurysms in a small subset of those with familial aneurysms.

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