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Cerebral cavernous malformation
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Cerebral cavernous malformation

Reviewed November 2006

What is cerebral cavernous malformation?

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 may not return to their normal size when the blood vessels empty. 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).

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). Severe brain hemorrhages can result in death. The location and number of cerebral cavernous malformations determine the severity of this disorder. These malformations can change in size and number over time, but they do not become cancerous.

How common is cerebral cavernous malformation?

Cerebral cavernous malformations affect about 0.5 percent of the population worldwide.

What genes are related to cerebral cavernous malformation?

Mutations in the CCM2, KRIT1, and PDCD10 genes cause cerebral cavernous malformation.

The precise functions of these genes are not fully understood, but they most likely play a role in blood vessel formation (angiogenesis) during embryonic development. They may also play a role in maintaining existing blood vessels. Researchers have not determined how mutations in these genes can lead to the abnormal capillaries characteristic of cerebral cavernous malformations.

Mutations in these three genes account for 70 percent to 80 percent of all cases of familial cerebral cavernous malformations. The remaining 20 percent to 30 percent of cases may be due to unidentified genes or to other unknown causes.

Read more about the CCM2, KRIT1, and PDCD10 genes.

How do people inherit cerebral cavernous malformation?

This condition is inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, an affected person inherits the mutation from one affected parent.

Most cases of cerebral cavernous malformation result from a new mutation in the KRIT1, CCM2, or PDCD10 gene. These cases are known as sporadic, and they occur in people with no history of the disorder in their family.

Where can I find information about treatment for cerebral cavernous malformation?

These resources address the management of cerebral cavernous malformation and may include treatment providers.

You might also find information on treatment of cerebral cavernous malformation in Educational resources and Patient support.

Where can I find additional information about cerebral cavernous malformation?

You may find the following resources about cerebral cavernous malformation helpful. These materials are written for the general public.

You may also be interested in these resources, which are designed for healthcare professionals and researchers.

What other names do people use for cerebral cavernous malformation?

  • Central Nervous System Cavernous Hemangioma
  • Cerebral Cavernous Hemangioma
  • Familial Cavernous Hemangioma
  • Familial Cavernous Malformation
  • Familial Cerebral Cavernous Angioma
  • Familial Cerebral Cavernous Malformation
  • Intracerebral Cavernous Hemangioma

What if I still have specific questions about cerebral cavernous malformation?

Where can I find general information about genetic conditions?

What glossary definitions help with understanding cerebral cavernous malformation?

angiogenesis ; angioma ; autosomal ; autosomal dominant ; capillaries ; cavernous ; cell ; central nervous system ; cerebral hemorrhage ; CNS ; cutaneous ; deficiency ; elastic ; embryonic ; familial ; gene ; hemangioma ; hemorrhage ; malformation ; mutation ; nervous system ; new mutation ; population ; retina ; seizure ; sign ; sporadic ; symptom ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (10 links)


The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

Reviewed: November 2006
Published: January 23, 2009