Cavernous angiomas affect approximately 0.4–0.8% of the general population, making them one of the more common vascular malformations of the brain (accounting for approximately 10-25% of cases). Within this population, 18.7% of individuals with cavernous angiomas have more than one. Many individuals remain undiagnosed because lesions are often asymptomatic (about 11% of cases), with many only experiencing symptoms and seeking diagnosis between the ages of 20-60. Both sporadic and familial forms exist, and the condition affects males and females equally.

Cavernous angiomas may occur sporadically or as part of a hereditary condition. Sporadic cases usually involve a single lesion and may arise without a known cause. Familial cases are inherited in an autosomal dominant pattern (see RareShare Guide on Genetic Inheritance). Cavernous angiomas, or cerebral cavernous malformation (CCM), are caused by mutations in the CCM group of genes: CCM1 (KRIT1) located on chromosome 7q and associated with 40% of cases, CCM2 (MGC4607/Malcavernin) located on chromosome 7p and associated with 20% of cases, or CCM3 (PDCD10) located on chromosome 3p and associated with 40% of cases (see RareShare Guide on Chromosomal Nomenclature). These genes are involved in producing proteins that connect blood vessels and capillaries to each other. Mutations lead to fragile blood vessel connections (junctions) that are prone to leakage and bleeding.

Symptoms depend on the location, size, and bleeding activity of the lesion and may include:

• Seizures, particularly when lesions are located in the cerebral cortex

• Headaches, which may be chronic or acute

• Effects of compression on the brain (mass effect) - weakness, numbness, vision problems, or hearing or speech difficulty

• Balance or coordination problems

• Hemorrhage, which can cause sudden neurological deterioration

• Memory problems

• Difficulty with bowel or bladder control

• Fatigue

• Dizziness

• Tremors

Some individuals remain completely asymptomatic, while others experience recurrent symptoms due to repeated microbleeds.

Cavernous angiomas are usually diagnosed through neuroimaging, often incidentally during imaging for unrelated conditions or after symptoms such as seizures or neurological deficits. These angiomas are only visible in magnetic resonance imaging (MRI), and not visible during cerebral angiography. A detailed family history is important to identify possible hereditary forms.

• Magnetic resonance imaging (MRI): The gold standard for diagnosis; shows a characteristic “popcorn” or "raspberry" appearance with mixed signal intensity and a hemosiderin (brown, iron-rich, color formed from breakdown of red blood cells) rim around the angioma

  • Traditional MRI - scans the structure of the angioma

  • Functional MRI (fMRI) - maps the relationship between the angioma and brain structures responsible for language, movement and sensation, vision, and balance

  • Diffusion Tensor Imaging (DTI) - looks for deformities deep in the nerve fibers of the brain tissue

  • BRAVO (Brain Volume)- uses ultrafast MRI technology for 3D images of brain tissue volume

  • GRE (Gradient Echo) and SWAN (Susceptibility Weighted Angiography) - detects even the smallest malformations in all areas of the brain and if they’ve ever leaked blood

• Susceptibility-weighted imaging (SWI): Highly sensitive for detecting small or multiple lesions

• Genetic testing: Recommended in patients with multiple lesions or a family history of CCM

• CT scan: May detect acute hemorrhage but is less sensitive for identifying cavernous angiomas themselves

• Neurological examination: Helps assess functional impact

Treatment depends on symptom severity, lesion location, and bleeding risk:

• Observation: Asymptomatic lesions are often monitored with periodic MRI scans

• Antiseizure medications: Used for seizure control; becomes more difficult over time especially if angiomas continue to develop

• Surgical removal: Considered for accessible lesions causing recurrent hemorrhage, progressive neurological deficits, or medically refractory seizures

• Stereotactic radiosurgery: Occasionally used in select cases, though its role remains controversial

Management is individualized and typically involves neurologists and neurosurgeons with experience in vascular malformations. Symptomatic cases of angiomas in children are often prioritized for surgery to reduce future risk of seizures.

The prognosis for individuals with cavernous angiomas is highly variable. Many people live normal lives with minimal or no symptoms. However, recurrent bleeding or lesion growth can lead to permanent neurological deficits, particularly when lesions are located in critical brain areas. Brain bleeding (hemorrhage) can cause seizures, paralysis, or stroke if severe and left untreated, but those with cavernous angiomas may not experience these depending on the number, location, and size of their lesions. Familial cases may have a higher risk of developing multiple lesions over time. With appropriate monitoring and treatment, outcomes are often favorable, and life expectancy is generally normal.

1. Cleveland Clinic: Cavernous angioma

2. UCLA Health Neurosurgery: Cavernous angioma

3. Stanford Health Care: Cavernous angioma

4. NCBI Bookshelf: Cavernous angioma

5. NCBI Bookshelf: MGC4607