Janneke van Beijnum1, H Bart van der Worp2, Ale Algra2, W Peter Vandertop2, René van den Berg2, Patrick A Brouwer2, Jan Willem Berkelbach van der Sprenkel2, L Jaap Kappelle2, Gabriël J E Rinkel2, Catharina J M Klijn2. 1. From the Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus (J.v.B., H.B.v.d.W., A.A., J.W.B.v.d.S., L.J.K., G.J.E.R., C.J.M.K.), and the Julius Centre for Health Science and Primary Care (A.A.), University Medical Center Utrecht, Utrecht, The Netherlands; Departments of Neurosurgery (W.P.V.) and Radiology (R.v.d.B.), Neurosurgical Center Amsterdam, VU University Medical Center and Amsterdam Medical Center, Amsterdam, The Netherlands; and Departments of Neurosurgery (J.v.B.) and Radiology (P.A.B.), Leiden University Medical Center, Leiden, The Netherlands. J.vanBeijnum@gmail.com. 2. From the Department of Neurology and Neurosurgery, Brain Center Rudolf Magnus (J.v.B., H.B.v.d.W., A.A., J.W.B.v.d.S., L.J.K., G.J.E.R., C.J.M.K.), and the Julius Centre for Health Science and Primary Care (A.A.), University Medical Center Utrecht, Utrecht, The Netherlands; Departments of Neurosurgery (W.P.V.) and Radiology (R.v.d.B.), Neurosurgical Center Amsterdam, VU University Medical Center and Amsterdam Medical Center, Amsterdam, The Netherlands; and Departments of Neurosurgery (J.v.B.) and Radiology (P.A.B.), Leiden University Medical Center, Leiden, The Netherlands.
Abstract
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.
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.
Authors: Christoph J Griessenauer; Sean Farrell; Atom Sarkar; Ramin Zand; Vida Abedi; Neil Holland; Andrew Michael; Christopher L Cummings; Raghu Metpally; David J Carey; Oded Goren; Neil Martin; Philipp Hendrix; Clemens M Schirmer Journal: J Cereb Blood Flow Metab Date: 2018-09-05 Impact factor: 6.200
Authors: Shantel Weinsheimer; Nasrine Bendjilali; Jeffrey Nelson; Diana E Guo; Jonathan G Zaroff; Stephen Sidney; Charles E McCulloch; Rustam Al-Shahi Salman; Jonathan N Berg; Bobby P C Koeleman; Matthias Simon; Azize Bostroem; Marco Fontanella; Carmelo L Sturiale; Roberto Pola; Alfredo Puca; Michael T Lawton; William L Young; Ludmila Pawlikowska; Catharina J M Klijn; Helen Kim Journal: J Neurol Neurosurg Psychiatry Date: 2016-01-27 Impact factor: 10.154