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Diseases

Genetic and Rare Diseases Information Center (GARD)

Cerebral cavernous malformation


Other Names for this Disease
  • CCM
  • Cerebral cavernous hemangioma
  • Cavernous angioma
  • Cavernoma
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Cause

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What causes cerebral cavernous malformations?

Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure. These capillaries have abnormally thin walls that are prone to leak. They also lack other support tissues, such as elastic fibers, which normally make them stretchy. As a result, when the capillaries fill with blood, they stretch out and create "caverns." They may not return to their normal size when the blood vessels empty.[1]

Cerebral cavernous malformations may be familial or sporadic.[1][2] Familial cases are caused by a mutation in one of at least three particular genes (KRIT1, CCM2, and PDCD10). While the precise functions of these genes are not fully understood, they are believed to interact with each other as part of a complex that strengthens the interactions between cells and limits leakage from the blood vessels.[1] The underlying cause of sporadic CCMs in unknown and the primary focus of many researchers.[2]
Last updated: 12/14/2015

References
  1. Cerebral cavernous malformation. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation. Accessed 12/14/2015.
  2. Akers, Amy Ph.D.. Cavernous Malformation. National Organization for Rare Disorders (NORD). 2013; http://rarediseases.org/rare-diseases/cavernous-malformation/. Accessed 12/14/2015.


Other Names for this Disease
  • CCM
  • Cerebral cavernous hemangioma
  • Cavernous angioma
  • Cavernoma
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.