Short answer · Medically reviewed summary · Last updated: 2026-05-08
Cavernous malformation (also known as a cavernoma or cerebral cavernous angioma) is a vascular abnormality consisting of a cluster of abnormally dilated, thin-walled blood vessels that resemble a mulberry. These lesions occur primarily in the central nervous system, where they can cause neurological symptoms or seizures due to minor bleeding or pressure on surrounding brain tissue. What body systems are affected by Cavernous Malformation? Cavernous malformation primarily affects the central nervous system, specifically the brain and, less frequently, the spinal cord.
What is Cavernous Malformation
What is Cavernous Malformation? Plain-language, medically reviewed definition plus the lived reality told by patients.
Cavernous malformation (also known as a cavernoma or cerebral cavernous angioma) is a vascular abnormality consisting of a cluster of abnormally dilated, thin-walled blood vessels that resemble a mulberry. These lesions occur primarily in the central nervous system, where they can cause neurological symptoms or seizures due to minor bleeding or pressure on surrounding brain tissue.
What body systems are affected by Cavernous Malformation?
Cavernous malformation primarily affects the central nervous system, specifically the brain and, less frequently, the spinal cord. Because these clusters lack the structural integrity of normal blood vessels, they are prone to "leaking," which can irritate brain tissue. Common clinical manifestations include seizures, chronic headaches, focal neurological deficits (such as weakness or vision changes), and, in some cases, hemorrhagic stroke.
How common is Cavernous Malformation?
Estimates suggest that cavernous malformation affects approximately 0.1% to 0.5% of the general population. While many individuals remain asymptomatic throughout their lives, the condition is often discovered incidentally during MRI scans performed for unrelated reasons. At DiseaseMaps.org, 124 people with cavernous malformation have joined our community to share their experiences and support one another.
Is Cavernous Malformation hereditary?
Cavernous malformation can be categorized into two forms:
- Sporadic form: Occurs randomly in individuals with no family history; these individuals typically have a single lesion.
- Familial form: Inherited in an autosomal dominant pattern, often linked to mutations in the CCM1, CCM2, or PDCD10 (CCM3) genes; these patients frequently present with multiple lesions.
How does it differ from other vascular lesions?
Unlike arteriovenous malformations (AVMs), a cavernous malformation is a "low-flow" lesion. This means it does not have the high-pressure arterial shunting seen in other vascular anomalies, which significantly changes how clinicians approach treatment, surveillance, and surgical intervention.
Next steps
- Consult a neurosurgeon or neurologist specializing in vascular anomalies to discuss your imaging results.
- Request genetic counseling if you have multiple lesions or a family history of cavernous malformation.
- Join the 124 members of the DiseaseMaps.org community to connect with others navigating this diagnosis.
- Maintain a regular schedule of follow-up MRIs as recommended by your physician to monitor lesion stability.
Medical disclaimer: This content is for informational purposes only and does not constitute professional medical advice, diagnosis, or treatment; always seek the advice of your physician regarding a medical condition.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Cerebral Cavernous Malformation
- Orphanet: Cerebral cavernous malformation
- OMIM (Online Mendelian Inheritance in Man): Entry #116860 (CCM1)
- Angioma Alliance: Patient resources and research updates
