Pathology of cavernous malformations

Cox, Efrem M.; Bambakidis, Nicholas C.; Cohen, Mark L.

doi:10.1016/b978-0-444-63640-9.00025-4

Cited by 37 publications

(31 citation statements)

References 81 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…Three genetic loci—CCM1, CCM2 and CCM3—are responsible for nearly 90% of all familiar cavernous malformations 1. Mutations in the CCM genes are hypothesised to lead to compromised endothelium integrity and abnormal angiogenesis, resulting in vascular malformation 2. Hispanic Americans, like our patient, have a 20-fold to 100-fold increase in risk compared with the general population, and a well-documented founder mutation (c.1363C>T;pQ455X) has been reported 3.…”

Section: Descriptionmentioning

confidence: 62%

See 1 more Smart Citation

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient

Chen

Crawford

2018

BMJ Case Reports

View full text Add to dashboard Cite

Section: Descriptionmentioning

confidence: 62%

“…Only 20%–30% of patients with CCM are symptomatic 1. While CCM has been well described in adults, the natural history of CCM progression in the paediatric population is not well known; the mean age of clinical onset is 29.7 years 2. This CCM1/KRIT1 mutation, identified in our patient, has never been reported.…”

Section: Descriptionmentioning

confidence: 68%

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient

Chen

Crawford

2018

BMJ Case Reports

View full text Add to dashboard Cite

“…Cavernous malformations (CM) are rare cerebral abnormalities composed of low-flow, endotheliumlined, thin-walled caverns filled with blood at various stages of thrombosis and organization, separated by a collagenous stroma but devoid of mature vessel wall elements. Usually they become symptomatic due to interval hemorrhage and associated sequelae [4,8,23]. Most studies determined annualized bleeding rate as 0.5 -3% [7,[16][17]25].…”

Section: Introductionmentioning

confidence: 99%

Cavernous malformation hemorrhage due to trans-mural pressure alterations after cerebrospinal fluid diversion: a case report

Hartley

Birnbaum

Hoffman

2020

Preprint

View full text Add to dashboard Cite

Background: Cavernous malformations are rare cerebral pseudo-vascular lesions with annualized bleeding rates of 0.5 – 3% in most studies. Of the various explored risk factors for bleeding to date, only prior hemorrhage has shown significant correlation. Case Presentation: In this case, we describe a 65-year old man with a peri-ventricular atrial cavernous malformation that hemorrhaged after CSF diversion via ventriculoperitoneal shunting. Serial imaging showed that bleeding continued until the shunt was revised with a programmable valve set at maximum resistance with the addition of a gravitational unit, thereby lowering the trans-mural pressure differential across the cavernous malformation. Conclusions: Given that other vascular lesions are subject to hemorrhage from alterations in trans-mural pressure dynamics, we hypothesize that cavernous malformations are similarly affected by trans-mural pressure gradients as they are composed of primitive vascular elements. This hypothesis is corroborated by the temporal correlation of interventions, imaging, and exam findings in the present case, and suggests a potentially important risk factor for hemorrhage in CM patients that affects prognostication and management.

show abstract

“…Cavernous malformations (CM) are rare cerebral abnormalities composed of low-flow, endothelium-lined, thinwalled caverns filled with blood at various stages of thrombosis and organization, separated by a collagenous stroma but devoid of mature vessel wall elements. Usually they become symptomatic due to interval hemorrhage and associated sequelae [1][2][3]. Most studies determined annualized bleeding rate as 0.5-3% [4][5][6][7].…”

Section: Introductionmentioning

confidence: 99%

Cavernous malformation hemorrhage due to trans-mural pressure alterations after cerebrospinal fluid diversion: a case report

2020

View full text Add to dashboard Cite

Background: Cavernous malformations are rare cerebral pseudo-vascular lesions with annualized bleeding rates of 0.5-3% in most studies. Of the various explored risk factors for bleeding to date, only prior hemorrhage has shown significant correlation. Case presentation: In this case, we describe a 65-year old man with a peri-ventricular atrial cavernous malformation that hemorrhaged after CSF diversion via ventriculoperitoneal shunting. Serial imaging showed that bleeding continued until the shunt was revised with a programmable valve set at maximum resistance with the addition of a gravitational unit, thereby lowering the trans-mural pressure differential across the cavernous malformation. Conclusions: Given that other vascular lesions are subject to hemorrhage from alterations in trans-mural pressure dynamics, we hypothesize that cavernous malformations are similarly affected by trans-mural pressure gradients as they are composed of primitive vascular elements. This hypothesis is corroborated by the temporal correlation of interventions, imaging, and exam findings in the present case, and suggests a potentially important risk factor for hemorrhage in CM patients that affects prognostication and management.

show abstract

Pathology of cavernous malformations

Cited by 37 publications

References 81 publications

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient

Novel KRIT1/CCM1 heterozygous nonsense mutation (c.715 C>T) associated with cerebral and cerebellar cavernous malformations in a paediatric patient

Cavernous malformation hemorrhage due to trans-mural pressure alterations after cerebrospinal fluid diversion: a case report

Cavernous malformation hemorrhage due to trans-mural pressure alterations after cerebrospinal fluid diversion: a case report

Contact Info

Product

Resources

About