Familial arteriovenous malformation

Snead, O. Carter; Acker, James D.; Morawetz, Richard B.

doi:10.1002/ana.410050617

Cited by 36 publications

(10 citation statements)

References 9 publications

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“…After study of the available pedigrees, assuming that some genetic basis exists, all patterns of inheritance remained possible. This complies with previous reports 10 11 13 – 15 22 27. Studies of twins affected with BAVMs are not available, except for one report on twins with HHT who both had a BAVM 33…”

Section: Discussionsupporting

confidence: 93%

“…Of the 53 patients with familial BAVM described in this report, the BAVM was identified after screening in three 10 14 22. Because of the low yield and high costs and uncertainty as to whether or not to treat unruptured BAVMs,55 we do not recommend screening of asymptomatic relatives of patients with a BAVM.…”

Section: Discussionmentioning

confidence: 90%

“…In three10 14 22 of the 25 families, three patients with BAVM were found. In the remaining families, two members per family were affected.…”

Section: Resultsmentioning

confidence: 97%

“…The absence of HHT stigmata was explicitly reported in 10 articles 9 10 12 – 14 18 20 – 22 25. Genetic testing to exclude HHT was not mentioned in any of the articles.…”

Section: Resultsmentioning

confidence: 99%

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Familial occurrence of brain arteriovenous malformations: a systematic review

Beijnum

Worp

Schippers

et al. 2007

Journal of Neurology, Neurosurgery & Psychiatry

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Background: Brain arteriovenous malformations (BAVMs) are thought to be sporadic developmental vascular lesions, but familial occurrence has been described. We compared the characteristics of patients with familial BAVMs with those of patients with sporadic BAVMs. Methods: We systematically reviewed the literature on patients with familial BAVMs. Three families that were found in our centre were added. Age, sex distribution and clinical presentation of the identified patients were compared with those in population based series of patients with sporadic BAVMs. Furthermore, we calculated the difference in mean age at diagnosis of parents and children to study possible anticipation. Results: We identified 53 patients in 25 families with BAVMs. Mean age at diagnosis of patients with familial BAVMs was 27 years (range 9 months to 58 years), which was younger than in the reference population (difference between means 8 years, 95% CI 3 to 13 years). Patients with familial BAVMs did not differ from the reference populations with respect to sex or mode of presentation. In families with BAVMs in successive generations, the age of the child at diagnosis was younger than the age of the parent (difference between means 22 years, 95% CI 13 to 30 years), which suggests clinical anticipation. Conclusions: Few patients with familial BAVMs have been described. These patients were diagnosed at a younger age than sporadic BAVMs whereas their mode of presentation was similar. Although there are indications of anticipation, it remains as yet unclear whether the described families represent accidental aggregation or indicate true familial occurrence of BAVMs.

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Section: Discussionsupporting

confidence: 93%

Section: Discussionmentioning

confidence: 90%

“…In three10 14 22 of the 25 families, three patients with BAVM were found. In the remaining families, two members per family were affected.…”

Section: Resultsmentioning

confidence: 97%

“…The absence of HHT stigmata was explicitly reported in 10 articles 9 10 12 – 14 18 20 – 22 25. Genetic testing to exclude HHT was not mentioned in any of the articles.…”

Section: Resultsmentioning

confidence: 99%

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Familial occurrence of brain arteriovenous malformations: a systematic review

Beijnum

Worp

Schippers

et al. 2007

Journal of Neurology, Neurosurgery & Psychiatry

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“…2). 1,6,32,40 One of the familial patients reported had labial nevi. The atrophy may result from maldevelopment, repeated microhemorrhages, or chronic ischemia.…”

Section: Cerebrovascular Malformationsmentioning

confidence: 99%

Hereditary neurocutaneous angiomatosis

Leblanc¹,

Melanson²,

Wilkinson³

1996

Journal of Neurosurgery

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The authors report the coexistence of vascular nevi (hemangiomas and arteriovenous malformations (AVMs) of the skin) with AVMs and venous malformations of the brain in male siblings from two related but nonconsanguineous families of three generations. The proband, his siblings, parents, aunts, uncles, and cousins were examined, underwent magnetic resonance (MR) imaging and MR angiography, and when appropriate, cerebral angiography. A father had vascular nevi and a mother, his sister, had an azygos anterior cerebral artery. No other cutaneous or cerebrovascular malformations were present in the parents. Each of the two families had two boys and one girl, 9 to 18 years of age. All the children had vascular nevi and all of the boys had coexisting cerebrovascular malformations: AVMs in three, and a venous malformation in another. One boy had three cerebral AVMs. Two boys had a cerebral hemorrhage, and one also had focal motor seizures. The skin lesions were not those of the Sturge-Weber-Dimitri, Rendu-Osler-Weber, or Wybum-Mason syndromes. The association of cutaneous and cerebrovascular malformations was seen only in males in these families. but females have also been reported in the literature. The results obtained in these families and three other families reported from Western and Central Europe indicate that the association of cerebral and cutaneous vascular hamartomas constitutes a distinct, hereditary clinicopathological entity with autosomal dominant inheritance and variable penetrance. The clinical manifestations of this syndrome are visible, painful vascular nevi, epilepsy, cerebral hemorrhage, and focal neurological deficits. The preponderance of male patients with the full expression of the syndrome suggests a possible hormonal influence on the expression of the gene.

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