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Copyright 1989, 1995, 1998, 2003
NORD is grateful to Emily Crocker, MS, Genetic Counselor, Marchuk Laboratory, Duke University Medical Center, for assistance in the preparation of this report.
Synonyms of Cavernous Malformation
- Cavernoma
- Cavernous Angioma
- Cavernous hemangioma
Disorder Subdivisions
General Discussion
Vascular malformations or angiomas are localized collections of blood vessels that are abnormal in structure or number, lead to altered blood flow, and are not cancerous (nonneoplastic). Most vascular malformations are present at birth (congenital) and are suspected to arise between three and eight weeks of gestation, but the specific defect in embryogenesis has not yet been identified for each type of malformation. Some vascular malformations are not congenital, but caused by trauma, radiation, or other injury to the spinal cord. They 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. Vascular malformations are sporadic and solitary in the majority of affected persons, however documented cases of autosomal dominant forms exist as well.
Cavernous malformations
Cavernous malformations are dilated blood vessels that are characterized by multiple distended “caverns” of blood that flow very slowly. The blood filled vascular spaces are surrounded by blood vessel walls that do not have enough smooth muscle and stretchable material (elastin), so they are not strong and get distended. Cavernous malformations can be located anywhere in the body, including the liver, rectum, kidney, eyes, nerves, spinal cord and brain. Brain and spinal cord (cerebral) malformations will be focused on here, as they have the potential for serious symptoms.
Cerebral cavernous malformations (CCMs) are usually located in the white matter (cortex) of the brain. They are rarely located in the brainstem or hypothalamus, though this may be more common in children than adults. Locations in the spinal cord are more common in the adult population than in children. Cerebral cavernous malformations do not have brain tissue within the malformation like other lesions such as arteriovenous malformations, and they are usually do not have defined borders (are not encapsulated).
Cerebral cavernous malformations are dynamic, changing in size and number over time. They can range from 0.1 to 9 cm and usually reach a larger size in children than adults (who usually have cavernous malformations only 2-3 cm in size). There is no correlation between size and risk of bleeding or long-term symptoms of brain damage (neurological deficits). Very small amounts of bleeding (microhemorrhages) can cause the development of new vessels, but they usually do not cause physical symptoms. These microhemorrhages show up as black dots on an MRI and contribute to a patient's prognosis and ability to function.
According to several studies, cerebral cavernous malformations are present in about 0.5% of the general population, and they account for 8-15% of all brain and spinal vascular malformations. The prevalence of cavernous malformations in children is estimated to be between 0.37 and 0.53% (up to 1 in 200 children have a CCM, whether symptomatic or asymptomatic), and approximately 25% of all diagnosed cavernous malformations are found in children. Before eighteen years of age, peak ages of incidence have been found to be 0-2 years (26.8% of children with CCMs) and 13-16 (35.7%). It is unclear why they are distributed in this manner.
Other malformations can be present in combination with CCMs, such as small areas where the capillaries or veins do not form correctly (capillary telangiectasias or venous malformations), and this association occurs 8-44% of the time. In fact, some investigators think that some cavernous malformations come from capillary telangiectasias originally. These combinations are more common in children than in adults. When an association of more than one malformation exists (such as a CCM and venous malformation) in the same person, hemorrhage is more common.
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Organizations related to Cavernous Malformation
- Angioma Alliance
520 West 21st Street
Suite G2-411
Norfolk VA 23517-1950
Phone #: 757-623-0615
800 #: 866-432-5226
e-mail: info@angiomaalliance.org
Home page: http://www.Angioma.org
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: http://rarediseases.info.nih.gov/GARD/EmailForm.aspx
Home page: http://rarediseases.info.nih.gov/GARD
- MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- National Organization of Vascular Anomalies - NOVA
PO Box 38216
Greensboro NC 27438-8216
Phone #: N/A
800 #: N/A
e-mail: Khall@mail.novanews.org
Home page: http://www.novanews.org
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