Prevalence of brain arteriovenous malformations in first-degree relatives of patients with a brain arteriovenous malformation
Publication year
2014Source
Stroke, 45, 11, (2014), pp. 3231-3235ISSN
Publication type
Article / Letter to editor

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Organization
Radboudumc Extern
Neurology
Journal title
Stroke
Volume
vol. 45
Issue
iss. 11
Page start
p. 3231
Page end
p. 3235
Subject
Alle HP's en lijnenAbstract
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.
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