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Cavernous Malformation

National Organization for Rare Disorders, Inc.

Important
It is possible that the main title of the report Cavernous Malformation is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

  • cavernoma
  • cavernous angioma
  • cavernous hemangioma
  • cerebral cavernous malformation (CCM)

Disorder Subdivisions

  • None

General Discussion

Vascular malformations are localized collections of blood vessels that are abnormal in structure or number, lead to altered blood flow, and are not cancerous (nonneoplastic). While it was originally believed that most vascular malformations are present at birth (congential), cavernous malformation lesions may develop throughout the lifetime of the affected individual. Other vascular malformations are not congenital, but are caused by trauma, radiation, or other injury to the spinal cord. Vascular malformations are typically classified by size, location, and type of change, with the four most common being capillary telangiectasias, cavernous malformations, venous malformations, and arteriovenous malformations.

Cavernous malformations
Cavernous malformations are dilated blood vessels that are characterized by multiple distended "caverns" of blood-filled vessels through which the blood flows very slowly. The vessels of a cavernous malformation lesion have a tendency to leak because they lack the necessary structural support - smooth muscle and stretchable material (elastin). Leakage (bleeding) from these vascular lesions is the underlying cause of clinical symptoms associated with the illness, cavernous malformation. Cavernous malformations are primarily located in the brain, but can also be found in the spinal cord, on the skin, and more rarely in the retina.

Cerebral cavernous malformations (CCMs) are usually located in the white matter (cortex) of the brain. CCM do not have brain tissue within the malformation like other lesions such as arteriovenous malformations, and they usually do not have defined borders (are not encapsulated). CCM are dynamic structures, changing in size and number over time and they can range in size from a few millimeters to several centimeters.

Cerebral cavernous malformations are present in up to 0.5% of the general population, and they account for a large proportion (8-15%) of all brain and spinal vascular malformations. While the prevalence of individuals with at least one CCM lesion is quite high, as many as 40% of affected individual may never experience symptoms or become diagnosed with cavernous malformation. A majority of these cases are individuals with only a single lesion and no family history of the disease. (These cases are termed 'sporadic' and are not caused by an inherited genetic mutation). Individuals with the inherited (genetic) form of cavernous malformation are likely to have multiple lesions and are more likely to experience symptoms associated with the disorder. While adults are more likely to be diagnosed with CCM, people of all ages may be affected by cavernous malformations, and approximately 25% of all diagnosed cavernous malformations are found in children.

CCM lesions are commonly associated with developmental venous anomalies (DVA) also called, venous malformations or venous angiomas. A DVA is a type of vascular malformation that, on its own, does not cause any clinical symptoms. However, when found in combination with a CCM lesion, the DVA complicates the option for surgical intervention because disturbing the DVA during surgery could cause a venous infarction. Association of CCMs with DVAs is uncommon in familial cavernous malformation; however, up to 40% of sporadic cavernous malformations may develop in the vicinity of a DVA. Rarely, multiple sporadic cavernous malformations are found nearby an associated DVA. The significance of DVA association with sporadic lesions is currently under investigation; perhaps this observation may suggest a difference in developmental mechanisms between sporadic and familial cavernous malformations.

Resources

Vascular Disease Foundation
1075 S. Yukon Street
Suite 320
Lakewood, CO 80226
Tel: (303)989-0500
Fax: (303)989-0200
Tel: (888)833-4463
Email: info@vdf.org
Internet: http://www.vdf.org

Angioma Alliance
520 West 21st Street
Suite G2-411
Norfolk, VA 23517-1950
Tel: (757)623-0615
Fax: (757)623-0615
Tel: (866)432-5226
Email: info@angiomaalliance.org
Internet: http://www.angiomaalliance.org

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Internet: http://rarediseases.info.nih.gov/GARD/

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

National Organization of Vascular Anomalies
PO Box 38216
Greensboro, NC 27438-8216
Email: admin@mail.novanews.org
Internet: http://www.novanews.org

Venous Disease Coalition
1075 S. Yukon Street, Suite 320
Suite 320
Lakewood, CO 80226
Tel: (303)989-0500
Fax: (303)989-0200
Tel: (888)833-4463
Email: info@venousdiseasecoalition.org
Internet: http://www.venousdiseasecoalition.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  9/1/2010
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