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

Beijnum, Janneke van; Worp, H. Bart van der; Algra, Ale; Vandertop, W. Peter; Berg, René van den; Brouwer, Patrick A.; Sprenkel, Jan Willem Berkelbach van der; Kappelle, L. Jaap; Rinkel, Gabriël J.E.; Klijn, Catharina J.M.

doi:10.1161/strokeaha.114.005442

Cited by 22 publications

(12 citation statements)

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“…The 3 year follow-up results of the stenting and aggressive medical management for preventing recurrent stroke in intracranial stenosis (SAMMPRIS) [4] trial originally published in 2011, along with the 10 year follow-up of the international subarachnoid aneurysm trial (ISAT) [5] were also reported. We also highlight several other noteworthy studies published this year [6][7][8][9][10][11][12][13].…”

Section: Introductionsupporting

confidence: 53%

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Cerebrovascular neurosurgery 2014

Salem

Gross

et al. 2015

Journal of Clinical Neuroscience

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Section: Introductionsupporting

confidence: 53%

“…The authors of the aforementioned study analyzing familial intracranial aneurysms also sent questionnaires to 460 patients with known brain arteriovenous malformations (AVM) to evaluate the prevalence of AVMs in 2992 first degree relatives [13]. Three patients had a first degree relative with an AVM.…”

Section: Familial Screeningmentioning

confidence: 99%

Cerebrovascular neurosurgery 2014

Salem

Gross

et al. 2015

Journal of Clinical Neuroscience

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“…4 We compared parental age at delivery of patients with a BAVM, with population means of parental age matched for sex, birth order, and year of birth using the Mann-Whitney U test.…”

Section: Parental Age and The Occurrence Of Sporadic Brain Arteriovenmentioning

confidence: 99%

Parental age and the occurrence of sporadic brain arteriovenous malformations

Hauer

Beijnum

Vandertop³

et al. 2016

International Journal of Stroke

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Parental age and the occurrence of sporadic brain arteriovenous malformationsDear editor,The pathogenesis of sporadic brain arteriovenous malformations (BAVMs) remains unclear, but accumulating evidence suggests a genetic susceptibility.1 Within the context of genetic susceptibility, de novo mutations arising from the germline may play a role. As parental ageing is a risk factor for transmission of de novo mutations, 2,3 we investigated whether higher parental age at delivery is associated with the occurrence of BAVMs in the offspring.We approached a cohort of 682 BAVM patients, who were seen between 1990 and 2006 at one of four university hospitals in the Netherlands, with a postal questionnaire to retrieve the dates of birth of their parents. 4 We compared parental age at delivery of patients with a BAVM, with population means of parental age matched for sex, birth order, and year of birth using the Mann-Whitney U test.5 Because maternal age of the controls for patients born before 1950 was lacking, we extrapolated data from more recent years, and performed a sensitivity analysis excluding this subgroup to address the potential influence on the results. Paternal age of the control population was unavailable before 1996. 5 Based on available data on the period after 1995, 5 we assumed that fathers were on average three years older than mothers.We obtained responses from 460 (67%) patients. 4Baseline characteristics, including the year of birth, did not differ between responders and non-responders. We found no significant difference in both maternal and paternal age at the time of delivery between BAVM patients and the matched control population (Table 1). In addition, the sensitivity analysis excluding the patients born before 1950, yielded essentially the same results.In conclusion, parental age at delivery did not differ between patients with a BAVM and the general population. Our results do not support the hypothesis that de novo mutations arising from the germline underlie BAVM pathogenesis.

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“…The affected baby with the congenital lesion is normal and may have no symptoms until only after years because of the tininess of the lesion [5].…”

Section: Introductionmentioning

confidence: 99%

Fluctuating Neurologic Symptoms in a Patient With Brain Lesion

2017

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There is a broad spectrum of focal brain lesion in humans. They include primary brain tumor, non-neoplastic cysts, metastatic lesion, stroke, vascular malformations, aneurysm, inflammatory lesions and multiple sclerosis. The case was a 45-year-old female with fluctuating visual problem, ataxia, right upper limbs weakness, and transient amnesia who was referred to the neurologist. She was alert and under treatment from 10 years before by anti-convulsive drug for seizure with unknown etiology. Physical examination revealed ataxic gate, left-sided homonymous lower quadrantanopia and loss of venous pulse in ophthalmoscopy; there were no other pathological findings. Primary brain imaging (axial brain CT scan) was performed which showed a suspected lesion in right-sided parietooccipital area. Brain MRI and CT angiography revealed a heterogeneous lesion in right-sided parietooccipital area without edema and a mass in the form of vascular malformation. Because of the size and location of the lesion, it seemed inoperable. Treatment plan included serial visit and imaging to follow the progress of lesion and probable complications such as intralesional hemorrhage and hydrocephalia.

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

Cited by 22 publications

References 23 publications

Cerebrovascular neurosurgery 2014

Cerebrovascular neurosurgery 2014

Parental age and the occurrence of sporadic brain arteriovenous malformations

Fluctuating Neurologic Symptoms in a Patient With Brain Lesion

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