Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Haasdijk, Remco; Cheng, Caroline; Maat‐Kievit, Anneke; Duckers, Henricus J.

doi:10.1038/ejhg.2011.155

Cited by 74 publications

(85 citation statements)

References 83 publications

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“…9 Based on the assumption of a potentially increased hemorrhage risk under long-term antithrombotic therapy, current recommendations advise against the use of such medication in the presence of one or more CCMs. 2,10 However, no systematic studies exist to support this hypothesis.…”

mentioning

confidence: 99%

Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

Schneble

Soumaré

Hervé

et al. 2012

Stroke

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Background and Purpose-Cerebral cavernous malformations (CCMs) are one of the most frequently diagnosed vascular malformations of the brain and constitute a potential source of intracranial hemorrhage. In CCM patients suffering ischemic stroke or heart disease, the use of anticoagulants or antiplatelet therapy is generally avoided by fear of hemorrhagic complications, but no systematic studies exist to support this hypothesis. Methods-We prospectively followed-up consecutive patients with a diagnosis of one or more CCMs in a prospective database since 2008. Retrospective data collection was used for patients with a diagnostic event or imaging studies done before first assessment. Symptomatic hemorrhage and other focal neurological events during prospective follow-up were defined according to the current guidelines of the Angioma Alliance Scientific Advisory board. Results-A total of 87 patients were prospectively enrolled in our cohort [50 women (57%), mean age 44.8 years (SD ± 17.6), mean follow-up 3.9 years], harboring a total of 738 CCMs. Fifty-five patients (63%) had a single CCM, and 32 patients (37%) had multiple CCMs. Longitudinal follow-up included 16 (18%) patients receiving long-term antithrombotic therapy by antiplatelet treatment (n=11) or oral anticoagulants (n=5). During 5536 lesion-years of observation, none of the patients under antithrombotic therapy experienced CCM hemorrhage on follow-up. Conclusions-Our observational data suggest that long-term antithrombotic treatment by antiplatelet drugs or warfarin does not increase the frequency of CCM-related hemorrhage. Patients harboring single or multiple CCMs suffering ischemic stroke or heart disease should not be withheld antithrombotic therapy. (Stroke. 2012;43:3196-3199.)

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mentioning

confidence: 99%

Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

Schneble

Soumaré

Hervé

et al. 2012

Stroke

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“…It has been proposed that haploinsufficiency manifests through various ways in CCM, such as inadequate protein production for endothelial junction formation, causing the pseudovascular formation characteristic of CCM. 12 Though this can be seen as an adequate explanation for disease mechanism, it would not fit the presentation of our patient as haploinsufficiency would indicate disease progression since birth, which was not the case here.…”

Section: Haploinsufficiencymentioning

confidence: 65%

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient

Arul¹,

Khanna²,

Gooch³

2018

JHN Journal

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“…The prevalence of CM in the general population ranges from 0.16 % to 0.5 % (Del Curling et al 1991;Baumann et al 2006;Morris et al 2009;Krisht et al 2010;Kivelev 2011;Cavalcanti et al 2012;Haasdijk et al 2012;Al-Holou et al 2012). The incidence of cavernomas is equal in both genders (Del Curling et al 1991;Kondziolka et al 1995;Kivelev 2012;Gross et al 2011;Al-Holou et al 2012), and it seems to be increasing with the wide availability of MRI (Kondziolka et al 1995;Aiba et al 1995;Washington et al 2010;Dalyai et al 2011;Al-Holou et al 2012), and imaging prevalence of cavernomas had been noted to be increasing with advancing age (Al-Holou et al 2012;Robinson et al 1991).…”

Section: Definition and Epidemiologymentioning

confidence: 99%

“…Linkage studies have shown that a CCM1 mutation is involved in up to 40 % of familial CCMs, and nearly half of those patients will have neurological symptoms before 25 years of age (Yadla et al 2010). It has 20 exons of which 16 encodes Krev interaction trapped 1 (Krit1), a 736-amino-acid microtubule-associated protein containing 4 ankyrin domains, one at C terminal (FERM) (i.e., band 4.1, ezrin, radixin, moesin), and three at N-terminal NPXY (Asn-Pro-XTyr) motifs (Cavalcanti et al 2012;Haasdijk et al 2012).…”

Section: Genetic Of Cavernomamentioning

confidence: 99%

“…In the recent literature, about 40 % of them are being diagnosed incidentally (Washington et al 2010;Dalyai et al 2011). Up to 25 % of individuals with incidental CM remain symptom-free throughout their lives and 9 % of patients with CMs are symptomatic before age 10 years (Krisht et al 2010;Haasdijk et al 2012).…”

Section: Clinical Presentation Asymptomatic Lesions (Incidental)mentioning

confidence: 99%

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Neurosurgery for Intracranial and Spinal Cavernomas

Belkhair

Maldonado

Tymianski

et al. 2014

PanVascular Medicine

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Background: Cavernous malformation of the brain and spinal cord are not uncommon; they constitute between 5 % and 15 % of all vascular malformations of CNS. A concise summary of current evidence in the literature is required to help in understanding and managing these vascular lesions.Method: A literature search using the online database PubMed was performed to identify all the studies published between 1980 and December 2012 that have search terms "Cavernoma, cavernous malformation, cavernous angioma and cavernous Hemangioma." The search was limited to studies in the English language and specific to humans. Articles were reviewed along with any pertinent citations provided by these articles.Result: We systematically summarized current evidence in the literature; definition, epidemiology, genetics, diagnostic imaging, clinical presentation, natural history, management, surgical outcome, and complication of intracranial and spinal cavernoma were discussed in detail in this chapter.Conclusion: This chapter provides a thorough review to all aspects related to intracranial and spinal cavernoma.

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Cerebral cavernous malformations: from molecular pathogenesis to genetic counselling and clinical management

Cited by 74 publications

References 83 publications

Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

Antithrombotic Therapy and Bleeding Risk in a Prospective Cohort Study of Patients With Cerebral Cavernous Malformations

A Case Report and Overview of Familial Cerebral Cavernous Malformation Pathogenesis in an Adult Patient

Neurosurgery for Intracranial and Spinal Cavernomas

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