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GTR Home > Conditions/Phenotypes > Cerebral cavernous malformation

Cerebral cavernous malformation

Synonyms
CAVERNOUS ANGIOMA, FAMILIAL; CAVERNOUS ANGIOMATOUS MALFORMATIONS; CEREBRAL CAPILLARY MALFORMATIONS; Cavernous Hemangioma of Brain; Cerebral cavernous hemangioma (type); Cerebral cavernous malformations; Familial Cerebral Cavernous Malformation

Summary

Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord comprising closely clustered, enlarged capillary channels (caverns) with a single layer of endothelium without mature vessel wall elements or normal intervening brain parenchyma. The diameter of CCMs ranges from a few millimeters to several centimeters. CCMs increase or decrease in size and increase in number over time. Hundreds of lesions may be identified, depending on the person's age and the quality and type of brain imaging used. Although CCMs have been reported in infants and children, the majority become evident between the second and fifth decades with findings such as seizures, focal neurologic deficits, nonspecific headaches, and cerebral hemorrhage. Up to 50% of individuals with FCCM remain symptom free throughout their lives. Cutaneous vascular lesions are found in 9% of those with familial cerebral cavernous malformations (FCCM; see Diagnosis/testing) and retinal vascular lesions in almost 5%. [from GeneReviews]

Available tests

44 tests are in the database for this condition.

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Clinical tests (43 available)

Molecular Genetics Tests

Research tests

Genes See tests for all associated and related genes

  • Also known as: CAM, CCM1, KRIT1
    Summary: KRIT1 ankyrin repeat containing

Clinical features

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Imported from Human Phenotype Ontology (HPO)

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Reviews

Suggested reading

  • Al-Shahi Salman et al., 2012
    Untreated clinical course of cerebral cavernous malformations: a prospective, population-based cohort study.
  • Al-Shahi Salman et al., 2008
    Hemorrhage from cavernous malformations of the brain: definition and reporting standards. Angioma Alliance Scientific Advisory Board.

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