Familial occurrence of cerebral arteriovenous malformation in sisters: case report * and review of the literature

Herzig, Roman; Buřval, Stanislav; Vladyka, Vilibald; Janoušková, Ladislava; Krivanek, Peter; Křupka, Bohdan; Vlachová, Ivanka; Urbánek, Karel

doi:10.1046/j.1468-1331.2000.00007.x

Cited by 36 publications

(16 citation statements)

References 23 publications

(41 reference statements)

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“…Several cases of familial BAVMs have been published. 5,6,12,13 In our review of the literature on familial occurrence of BAVMs, the clinical characteristics of patients with familial BAVMs were similar to those of patients with a sporadic BAVM, except for those patients with familial BAVMs were diagnosed at younger age. 6 In families with BAVMs in ≥2 successive generations, children were younger at the time of diagnosis than their parents.…”

Section: Discussionmentioning

confidence: 61%

“…However, several reports of families with ≥2 affected relatives have been described. 5,6 It is unclear whether the described families represent coincidental aggregation or share familial risk factors. 5,6 Therefore, we aimed to assess the prevalence of BAVMs in first-degree relatives (FDRs) of patients with a BAVM and to assess whether this prevalence is higher than the prevalence in the general population.…”

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confidence: 99%

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Prevalence of Brain Arteriovenous Malformations in First-Degree Relatives of Patients With a Brain Arteriovenous Malformation

Beijnum

Worp

Algra

et al. 2014

Stroke

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Background and Purpose-It is uncertain whether familial occurrence of brain arteriovenous malformations (BAVMs) represents coincidental aggregation or a shared familial risk factor. We aimed to compare the prevalence of BAVMs in first-degree relatives (FDRs) of patients with BAVM and the prevalence in the general population. Methods-We sent a postal questionnaire to 682 patients diagnosed with a BAVM in 1 of 4 university hospitals to retrieve information about the occurrence of BAVMs among their FDRs. We calculated a prevalence ratio using the BAVM prevalence among FDRs and the prevalence from a Scottish population-based study (93 per 628 788 adults). A prevalence ratio of ≥9 with a lower limit of the 95% confidence interval of 3 was considered indicative of a shared familial risk factor. Results-Informed consent was given by 460 (67%) patients, who had 2992 FDRs. We identified 3 patients with a FDR with a BAVM, yielding a prevalence ratio of 6.8 (95% CI, 2.2-21). Conclusions-The prevalence of BAVMs in FDRs of patients with a BAVM was increased but did not meet our prespecified criterion for a shared familial risk factor. In combination with the low absolute risk of a BAVM in FDRs, our results do not support screening of FDRs for BAVMs. (Stroke. 2014;45:3231-3235.)

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Section: Discussionmentioning

confidence: 61%

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confidence: 99%

Prevalence of Brain Arteriovenous Malformations in First-Degree Relatives of Patients With a Brain Arteriovenous Malformation

Beijnum

Worp

Algra

et al. 2014

Stroke

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“…11,12 Identification of genetic markers such as single-nucleotide polymorphisms (SNPs) would be useful for managing AVM patients. They could yield insights into the pathogenesis of the lesions and suggest possible fruitful approaches to developing medical therapy.…”

Section: Young and Yang Genetic Influences On Sporadic Brain Avm 2741mentioning

confidence: 99%

Are There Genetic Influences on Sporadic Brain Arteriovenous Malformations?

Young

Yang

2004

Stroke

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Abstract-The genesis of brain arteriovenous malformations remains enigmatic. We reviewed some pathways involving inflammatory and angiogenic signals that are amenable to the study of genetic single-nucleotide polymorphisms associated with the sporadic disease. Such study can yield insights into arteriovenous malformation pathogenesis and suggest possible fruitful approaches to developing medical therapy. Moreover, single-nucleotide polymorphisms identification would provide targets for risk stratification for planning clinical trials and eventually guiding management. Key Words: acute care Ⅲ arteriovenous malformations Ⅲ intracranial hemorrhages Ⅲ polymorphism, single nucleotide B rain arteriovenous malformations (AVMs) represent a relatively infrequent but important source of neurological morbidity in relatively young adults. 1 The basic morphology is of a vascular mass, called the nidus, that directly shunts blood between the arterial and venous circulation without a true capillary bed. There is usually a high flow through the feeding arteries, nidus, and draining veins. The nidus is a complex tangle of abnormal, dilated channels, not clearly artery or vein, with intervening gliosis. Clinical BehaviorPrevention of new or recurrent intracranial hemorrhage (ICH) is the primary rationale to treat AVMs, although seizures, mass effect, and headache can cause morbidity. Treatment by surgery or radiosurgery, often with adjunctive embolization, can be curative.The risk of spontaneous ICH has been estimated in retrospective observational studies to range from Ϸ2% to 6% per year, probably higher in the first year, but some recent estimates are higher. 1 Most of the data are from studies of first ICH subsequent to diagnosis; there is a gap in knowledge for rates applicable to ICH after first subsequent hemorrhage.Although somewhat controversial, there is very strong evidence that clinical presentation with ICH appears to be the strongest risk factor for future hemorrhage (Figure 1), but there are a number of other risk factors proposed, including exclusively deep venous drainage pattern and associated aneurysms; less certain are other factors such as patient age, lesion size, and location. 1,2 It is unknown whether increased risk of subsequent hemorrhage in those patients who present initially with ICH represent a different biological subtype. It may be that an AVM nidus "matures" until some critical event or transformation occurs, after which ICH occurs, rendering it more susceptible to rupture. Whether this state of increased risk continues in perpetuity is unclear (Figure 2). Need for Nonsurgical Management OptionsThe risk of aggressive interventional therapy may outweigh the risk of nonspecific medical management in certain cases. Definitive treatment is resource intensive and, for many lesions, entails considerable risk.To balance risk of intervention with natural history risks, current evidence points to a need for identifying which patients have the greatest risk of spontaneous hemorrhage. Not only is the risk of ...

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“…Although most cases of AVM are sporadic, a total of 53 patients from 25 families have been reported [4]. Familial brain AVM is defined when it occurs in two or more relatives (up to third-degree relative) in a family without associated disorders such as hereditary hemorrhagic telangiectasia (HHT), is autosomal dominant multisystemic vascular dysplasia [4,5]. It is plausible that familial cases are more frequent and could be overlooked because of asymptomatic conditions in other relatives.…”

Section: Introductionmentioning

confidence: 99%

Familial brain arteriovenous malformation maps to 5p13–q14, 15q11–q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array

Oikawa

Kuniba

Kondoh³

et al. 2010

European Journal of Medical Genetics

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Familial arteriovenous malformations (AVM) in the brain is a very rare disease. It is defined as its occurrence in two or more relatives (up to third-degree relatives) in a family without any associated disorders, such as hereditary hemorrhagic telangiectasia.We encountered a Japanese family with brain AVM in which four affected members in four successive generations were observed. One DNA sample extracted from leukocytes of the proband and ten DNA samples from clipped finger nails of other members were available. A genome-wide linkage analysis was performed on this pedigree using Affymetrix GeneCip 10K 2.0 Xba Array and MERLIN software. We obtained sufficient performance of SNP genotyping in the fingernail samples with the mean SNP call rate of 92.49%, and identified 18 regions with positive LOD scores.Haplotype and linkage analyses with microsatellite markers at these regions confirmed three possible disease-responsible regions, i.e., 5p13.2-q14.1, 15q11.2-q13.1 and 18p11.32-p11.22. Sequence analysis was conducted for ten selected candidate genes at 5p13.2-q14.1, such as MAP3K1, DAB2, OCLN, FGF10, ESM1, ITGA1, ITGA2, EGFLAM, ERBB2IP, and PIK3R1, but no causative genetic alteration was detected. This is the first experience of adoption of fingernail DNA to genome-wide, high-density SNP microarray analysis, showing candidate brain AVM susceptible regions.

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Familial occurrence of cerebral arteriovenous malformation in sisters: case report * and review of the literature

Cited by 36 publications

References 23 publications

Prevalence of Brain Arteriovenous Malformations in First-Degree Relatives of Patients With a Brain Arteriovenous Malformation

Prevalence of Brain Arteriovenous Malformations in First-Degree Relatives of Patients With a Brain Arteriovenous Malformation

Are There Genetic Influences on Sporadic Brain Arteriovenous Malformations?

Familial brain arteriovenous malformation maps to 5p13–q14, 15q11–q13 or 18p11: Linkage analysis with clipped fingernail DNA on high-density SNP array

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