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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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Overview



What are cerebral cavernous malformations (CCMs)?

What causes cerebral cavernous malformations?


What are cerebral cavernous malformations (CCMs)?

Cerebral cavernous malformations (CCMs) are collections of small blood vessels (capillaries) in the brain that are enlarged and irregular in structure which lead to altered blood flow. Cavernous malformations can occur anywhere in the body, but usually produce serious signs and symptoms only when they occur in the central nervous system (the brain and spinal cord). Cavernous malformations in the brain and/or spinal cord are called cerebral cavernous malformations.  Approximately 25 percent of individuals with cerebral cavernous malformations never experience any related medical problems. Other people with cerebral cavernous malformations may experience serious symptoms such as headaches, seizures, paralysis, hearing or vision deficiencies, and bleeding in the brain (cerebral hemorrhage). These malformations can change in size and number over time, but they do not become cancerous.  This condition can be sporadic or it can be inherited in an autosomal dominant pattern. Mutations in the KRIT1(CCM1), CCM2, and PDCD10 (CCM3) genes cause cerebral cavernous malformation.[1]
Last updated: 6/10/2011

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.