Skip to content

    Brain & Nervous System Health Center

    Font Size
    A
    A
    A

    Cavernous Malformation

    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

    • familial cavernous malformation
    • sporadic cavernous malformation

    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 are dilated blood vessels that are characterized by multiple distended "caverns" of blood-filled vasculature through which the blood flows very slowly. Vessels of a cavernous malformation lesion have a tendency to leak because they lack the proper junctions between neighboring cells as well as the necessary structural support from smooth muscle and stretchable material (elastin). Leakage (bleeding) from these vascular lesions is the underlying cause of clinical symptoms associated with the illness. 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.

    CCM 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 familial (genetic) form of cavernous malformation are likely to have multiple lesions and may be more likely to experience symptoms associated with the disorder. While adults are most often 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 dangerous bleeding. Association of CCMs with DVAs is uncommon in familial cavernous malformation; however, at least 40% of sporadic cavernous malformations may develop within 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
    550 M Ritchie Highway
    PMB-281
    Severna Park, MD 21146
    Tel: (443)261-5564
    Tel: (888)833-4463
    Email: robert.greenberg@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

    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: 2/27/2013
    Copyright 1989, 1995, 1998, 2003, 2010, 2013 National Organization for Rare Disorders, Inc.

    WebMD Medical Reference from the National Organization for Rare Disorders

    Last Updated: May 28, 2015
    This information is not intended to replace the advice of a doctor. Healthwise disclaims any liability for the decisions you make based on this information.

    Today on WebMD

    nerve damage
    Learn how this disease affects the nervous system.
    senior woman with lost expression
    Know the early warning signs.
     
    woman in art gallery
    Tips to stay smart, sharp, and focused.
    medical marijuana plant
    What is it used for?
     
    woman embracing dog
    Quiz
    boy hits soccer ball with head
    Slideshow
     
    red and white swirl
    Article
    marijuana plant
    ARTICLE
     
    brain illustration stroke
    Slideshow
    nerve damage
    Slideshow
     
    Alzheimers Overview
    Slideshow
    Graphic of number filled head and dna double helix
    Quiz