Cavernous angioma pathophysiology: Difference between revisions
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== Genetics == | == Genetics == | ||
Genes involved in the pathogenesis of cavernous angioma include: <ref name="pmid25900426">{{cite journal| author=Choquet H, Pawlikowska L, Lawton MT, Kim H| title=Genetics of cerebral cavernous malformations: current status and future prospects. | journal=J Neurosurg Sci | year= 2015 | volume= 59 | issue= 3 | pages= 211-20 | pmid=25900426 | doi= | pmc=4461471 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25900426 }} </ref> | Genes involved in the pathogenesis of cavernous angioma include: <ref name="pmid25900426">{{cite journal| author=Choquet H, Pawlikowska L, Lawton MT, Kim H| title=Genetics of cerebral cavernous malformations: current status and future prospects. | journal=J Neurosurg Sci | year= 2015 | volume= 59 | issue= 3 | pages= 211-20 | pmid=25900426 | doi= | pmc=4461471 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=25900426 }} </ref><ref name="pmid26923303">{{cite journal| author=Kim J| title=Introduction to cerebral cavernous malformation: a brief review. | journal=BMB Rep | year= 2016 | volume= 49 | issue= 5 | pages= 255-62 | pmid=26923303 | doi=10.5483/bmbrep.2016.49.5.036 | pmc=5070704 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=26923303 }} </ref><ref name="pmid30909834">{{cite journal| author=Zafar A, Quadri SA, Farooqui M, Ikram A, Robinson M, Hart BL | display-authors=etal| title=Familial Cerebral Cavernous Malformations. | journal=Stroke | year= 2019 | volume= 50 | issue= 5 | pages= 1294-1301 | pmid=30909834 | doi=10.1161/STROKEAHA.118.022314 | pmc=6924279 | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=30909834 }} </ref> | ||
* CCM1 (KRIT1) | * CCM1 (KRIT1) | ||
Revision as of 08:02, 16 February 2022
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Edzel Lorraine Co, D.M.D, M.D.
Cavernous Angiomas and Venous Angiomas
In up to 30% there is a coincidence of CCM with a venous angioma, also known as a developmental venous anomaly (DVA). These lesions appear either as enhancing linear blood vessels or caput medusae, a radial orientation of small vessels that resemble the hair of Medusa from Greek mythology. These lesions are thought to represent developmental anomalies of normal venous drainage. These lesions should not be removed, as reports of venous infarcts have been reported. When found in association with a CCM that needs resection, great care should be taken not to disrupt the angioma.
Left Orbital Cavernous Hemangioma
Frontal and temporal lobes are the most common sites of occurrence, and 80-90% of the lesions are supratentorial.
Genetics
Genes involved in the pathogenesis of cavernous angioma include: [1][2][3]
- CCM1 (KRIT1)
- CCM2
- CCM3 (PDCD10)
References
- ↑ Choquet H, Pawlikowska L, Lawton MT, Kim H (2015). "Genetics of cerebral cavernous malformations: current status and future prospects". J Neurosurg Sci. 59 (3): 211–20. PMC 4461471. PMID 25900426.
- ↑ Kim J (2016). "Introduction to cerebral cavernous malformation: a brief review". BMB Rep. 49 (5): 255–62. doi:10.5483/bmbrep.2016.49.5.036. PMC 5070704. PMID 26923303.
- ↑ Zafar A, Quadri SA, Farooqui M, Ikram A, Robinson M, Hart BL; et al. (2019). "Familial Cerebral Cavernous Malformations". Stroke. 50 (5): 1294–1301. doi:10.1161/STROKEAHA.118.022314. PMC 6924279 Check
|pmc=value (help). PMID 30909834.