Cavernous angioma pathophysiology
| Cavernous angioma pathophysiology | |
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| MRI: Cavernous malformation. (Image courtesy of RadsWiki) |
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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.
CCM can also be subdivided into two, according to its pattern of occurrence: [1]
- Familial or Hereditary CCM
- constitutes 20% of all cavernous angioma cases
- occurs as multiple lesions
- can have frameshift, nonsense or splice-site mutations
- can also have deletions or duplication of exons [1]
- Sporadic CCM
- occurs as single lesions [2]
Genetics
Genes involved in the pathogenesis of cavernous angioma include: [3][4][5]
- CCM1 (KRIT1) - found in chromosome 7q; responsible for regulation of angiogenesis
- CCM2 - found in chromosome 7p; responsible for regulation of angiogenesis, maintenance of vessel integrity, and stabilization of endothelial cell junction
- CCM3 (PDCD10) - found in chromosome 3q; responsible for stimulation of cell proliferation, regulation of apoptosis, regulation of heart development, angiogenesis, vasculogenesis and hematopoiesis[5]
References
- ↑ 1.0 1.1 Akers A, Al-Shahi Salman R, A Awad I, Dahlem K, Flemming K, Hart B; et al. (2017). "Synopsis of Guidelines for the Clinical Management of Cerebral Cavernous Malformations: Consensus Recommendations Based on Systematic Literature Review by the Angioma Alliance Scientific Advisory Board Clinical Experts Panel". Neurosurgery. 80 (5): 665–680. doi:10.1093/neuros/nyx091. PMC 5808153. PMID 28387823.
- ↑ Dalyai RT, Ghobrial G, Awad I, Tjoumakaris S, Gonzalez LF, Dumont AS; et al. (2011). "Management of incidental cavernous malformations: a review". Neurosurg Focus. 31 (6): E5. doi:10.3171/2011.9.FOCUS11211. PMID 22133177.
- ↑ 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.
- ↑ 5.0 5.1 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.