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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Cerebral cavernous malformation


Other Names for this Disease

  • Cavernoma
  • Cavernous angioma
  • CCM
  • Cerebral cavernous hemangioma
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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]

Most CCMs are caused by a mutation in one of three particular genes i.e. KRIT1, CCM2, and PDCD10.  The gene mutation may occur for the first time the affected indiviudal (sporadic) or be inherited from a parent (familial).  Acquired CCM can be cause by an injury to the brain or spinal cord. [2]
Last updated: 9/27/2010

References
  1. Cerebral cavernous malformation. Genetics Home Reference. November 2012; http://ghr.nlm.nih.gov/condition/cerebral-cavernous-malformation. Accessed 12/5/2012.
  2. Akers, Amy Ph.D.. Cavernous Malformation. National Organization for Rare Disorders (NORD). 2010; http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/620/viewAbstract. Accessed 12/5/2012.


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