Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease

Tandberg, Steven R; Bocklage, Thèrése; Bartlett, Mary R.; Morrison, Leslie; Nelson, Jeffrey; Hart, Blaine L.

doi:10.2214/ajr.19.21492

Cited by 8 publications

(9 citation statements)

References 20 publications

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“…We also found a high prevalence of vertebral intraosseous vascular malformations (69%), including atypical (T1 hypointense) intraosseous vascular malformation in approximately 38% of the patients who underwent MR imaging screening, supporting the recent finding that these are common in patients with familial CCM. 22 Many of the SCCMs that we found with screening were quite small (mean diameter of 2.52 mm) and we would not expect them to currently alter patient management. SCCMs were not commonly clinically discovered in our larger cohort (23/280 patients, 8.2%), and presenting with spinal cord hemorrhage (n ¼ 7) and being operated on for SCCM (n ¼ 7) were even rarer in our cohort.…”

Section: Discussionmentioning

confidence: 89%

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High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

Mabray

Starcevich

Hallstrom

et al. 2020

AJNR Am J Neuroradiol

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BACKGROUND AND PURPOSE: Cavernous malformations occur most often in the brain but can occur in the spinal cord. Small studies of patients with familial cerebral cavernous malformations suggested a prevalence of spinal cord cavernous malformations of 20%-42%. We aimed to review our familial cohort and prospectively estimate the prevalence of spinal cord cavernous malformations. MATERIALS AND METHODS:We initially reviewed our familial cerebral cavernous malformations cohort for spinal cord cavernous malformations and reviewed clinical spine MR imaging examinations for sequence sensitivity. We then prospectively performed research MR imaging of the spinal cord in 29 patients from the familial cohort to estimate the prevalence.RESULTS: Gradient-based sequences identified the most spinal cord cavernous malformations on clinical MR images, forming the basis for developing our screening MR imaging. Screening spinal cord MR imaging demonstrated a prevalence of 72.4%, and a positive correlation with patient age and number of cerebral cavernous malformations.CONCLUSIONS: Spinal cord cavernous malformations occur commonly in the familial cerebral cavernous malformation population. Gradient-based sequences are the most sensitive and should be used when spinal cord cavernous malformations are suspected. This study establishes the prevalence in the familial population at around 70% and supports the idea that this condition is a progressive systemic disease that affects the entire central nervous system. ABBREVIATIONS: CM ¼ cavernous malformation; CCM ¼ cerebral cavernous malformation; SCCM ¼ spinal cord cavernous malformation; MEDIC ¼ Multi-Echo Data Image Combination C avernous malformations (CMs) are dilated capillary-type lowflow vascular malformations, which are prone to repeated hemorrhage and growth over time. [1][2][3][4][5] Cerebral cavernous malformations (CCMs) occur with a prevalence of about 0.5% in the general population. 1,2,6 About 80% of CCMs are sporadic, solitary, and often closely associated with a developmental venous anomaly, and about 20% of CCMs are familial/syndromic. 1,2 Mutations that lead to familial CCM syndrome can occur in 3 genes (CCM1 or KRIT1, CCM2, and CCM3 or PDCD10) with an autosomal dominant transmission. 2,4,[7][8][9] There is a particularly high prevalence of familial CCM syndrome (CCM1-common Hispanic mutation) in southwest North America due to a founder effect in early Hispanic settlers. 1,2,4,9 Spinal cord cavernous malformations (SCCMs) are less common than CCMs and have been considered rare, with relatively less attention in the CCM literature and most reported cases being sporadic nonfamilial SCCMs. [10][11][12][13][14][15][16][17][18][19] A 2009 report on a single Italian family with familial CCM found SCCMs in 5 of 12 patients (41.7%), 2 of which were discovered clinically and 3 of which were discovered with screening MR imaging (3 of 6 screened patients had SCCMs). 20 An additional 2017 report on 13 patients with familial CCM found upper SCCMs in 3 patients (23.1%). 21 Given thes...

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Section: Discussionmentioning

confidence: 89%

“…We also recorded and characterized any vertebral intraosseous vascular malformations on screening MR imaging as these have recently been reported to be of high prevalence in patients with CCM. 22 We tested whether SCCM counts were associated with age and total brain CCM count by using the Spearman rank correlation.…”

Section: Screening Spinal Cord Mr Imagingmentioning

confidence: 99%

High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

Mabray

Starcevich

Hallstrom

et al. 2020

AJNR Am J Neuroradiol

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“…Familial CCM cases also display cavernous malformations outside the brain, including in the bone, spine, adrenal glands, and skin (Campione et al, 2013 ; Haghighi et al, 2013 ; Manole et al, 2020 ; Sirvente et al, 2009 ; Strickland et al, 2017 ; Tandberg et al, 2020 ; Toll et al, 2009 ). Specifically, among familial cases with CCM1 / KRIT1 , cutaneous lesions reported include congenital hyperkeratotic capillary‐venous malformations (HCCVMs), punctate capillary malformations (PCMs), and deep blue nodules (DBNs) (Manole et al, 2020 ; Sirvente et al, 2009 ).…”

Section: Introductionmentioning

confidence: 99%

Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation

Choksi

Weinsheimer

Nelson

et al. 2021

Molec Gen & Gen Med

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“…IOVMs may demonstrate an atypical appearance on MR imaging when relatively lipid-poor and may also exhibit a more aggressive-type behavior, leading to softtissue extension, cortical expansion, and potentially pathologic fracture. [21][22][23] Some authors postulate that aggressive features are more commonly seen in underlying combined capillary-venous malformations, particularly in the familial cerebral cavernous malformation population. 22 The presence of other features such as homogeneous soft-tissue enhancement, honeycomb pattern of internal trabeculation, T1 hyperintensity, absence of periosteal reaction and lack of erosive change, help to support the correct diagnosis despite otherwise atypical features.…”

mentioning

confidence: 99%

“…[21][22][23] Some authors postulate that aggressive features are more commonly seen in underlying combined capillary-venous malformations, particularly in the familial cerebral cavernous malformation population. 22 The presence of other features such as homogeneous soft-tissue enhancement, honeycomb pattern of internal trabeculation, T1 hyperintensity, absence of periosteal reaction and lack of erosive change, help to support the correct diagnosis despite otherwise atypical features. 2,[24][25][26][27] Such lesions can still be referred to as IOVMs.…”

mentioning

confidence: 99%

Intraosseous Venous Malformations of the Head and Neck

Strauß

Steinklein

Phillips

et al. 2022

AJNR Am J Neuroradiol

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Intraosseous venous malformations represent a subtype of venous vascular malformations that arise primarily in bone. In the head and neck, intraosseous venous malformations are most frequently found in the skull, skull base, and facial skeleton, with location at the geniculate ganglion of the facial nerve perhaps the most widely recognized. These non-neoplastic lesions are characterized by dilated venous channels with characteristic internal bony spicules on CT but may present with a more complex appearance on MR imaging and may share features with more aggressive lesions. Further confounding the imaging-based diagnosis of intraosseous venous malformation is the frequent misrepresentation of these lesions as hemangiomas in the radiology and clinical literature, as well as in daily practice. Because most intraosseous venous malformations can be left alone, their correct diagnosis may spare a patient unnecessary concern and intervention.

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Vertebral Intraosseous Vascular Malformations in a Familial Cerebral Cavernous Malformation Population: Prevalence, Histologic Features, and Associations With CNS Disease

Cited by 8 publications

References 20 publications

High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

High Prevalence of Spinal Cord Cavernous Malformations in the Familial Cerebral Cavernous Malformations Type 1 Cohort

Assessing the association of common genetic variants in EPHB4 and RASA1 with phenotype severity in familial cerebral cavernous malformation

Intraosseous Venous Malformations of the Head and Neck

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