Cavernous Malformation

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Overview

What are cavernous malformations?

Cavernous malformations of the brain and spinal cord are clusters of thin-walled blood vessels that are filled with slow-moving or clotted blood. They are often describe as looking like a “mulberry.” Since they are fragile, they frequently leak small amounts of blood, creating the appearance of growth, and sometimes triggering inflammation in surrounding nervous tissues. Severe bleeding events from cavernous malformations, though rare, can also occur, and can result in neurologic dysfunction. Cerebral cavernous malformations (CCMs) are also known as “cavernous angiomas,” or simply “cavernomas.” They can appear as a single lesion or with multiple lesions, or be part of a genetic syndrome in which multiple CCMs are present.

What are the symptoms of a cavernous malformation?

Many people with CCMs never experience symptoms. The type and severity of symptoms varies according to the CCM’s location. Possible symptoms may include:

Headaches
Changes in hearing or vision
Seizures
Muscle weakness or paralysis
Severe bleeding from a CCM is an important cause of hemorrhagic stroke. This is a serious condition that requires immediate medical attention.

Diagnosis

How are cavernous malformations diagnosed?

Whether the CCM has caused bleeding or not, the following advanced imaging (Figure 1) techniques may be used to diagnose it:

Magnetic resonance imaging (MRI) scan can help locate the CCM and the area of affected brain or spinal cord.
Computed tomography (CT) scan can assess any bleeding into the brain tissue.

Figure 1. Cerebral Cavernous Malformation Imaging - CT scan of the brain (A) in a patient with a mild headache showing a small spot of white bleeding (red arrow). B) A brain MRI scan T2 sequence demonstrating a small cavernous malformation (red arrow)

Genetics

There are two forms of CCMs: sporadic and familial. The majority of cases are sporadic, in which there is usually only one CCM present on MRI. A patient with a single, sporadic CCM is not more likely to have a child with CCMs. Approximately 20% of cavernous malformation cases are familial, and the genes leading to CCMs may be passed from parent to children in an autosomal dominant pattern. Individuals with familial CCM are more likely to have multiple cavernous malformations. Genetic testing may be warranted if an individual has multiple CCMs and/or there are multiple family members with known CCMs.

Treatment

How are cavernous malformations treated?

Treatment of a CCM depends on its location and the symptoms it causes (most commonly from bleeding events). Your doctor may recommend monitoring it with MRIs and treating symptoms with medications (Figure 2). If surgical treatment is necessary, the cerebrovascular surgeons at UCLA are expertly trained in this specialized procedure, and have performed a high volume of these surgeries. In each case, we aim to perform these surgeries in the most minimally-invasive way possible, removing the CCM with the least disruption of normal tissue.

Figure 2. Cerebral Cavernous Malformation Treatment - Brain CT scan in a patient having difficulty speaking shows a 3cm mass containing blood (red arrow). Figure 2b: Brain MRI showing the mass with blood inside (red arrow). Figure 2c: CT scan of the brain