Cavernous malformation (cavernoma)

What is cavernous malformation (cavernoma)?

Cavernous malformations, also known as cavernomas or cavernous hemangiomas, are abnormal clusters of small blood vessels in the brain and spinal cord that create wide “caverns” of slow-flowing blood. When they’re found in the brain, they’re called cerebral cavernous malformations, or CCMs. The clusters are blackberry-like in appearance and can grow in size and number over time. These lesions can range in size from a few millimeters to several centimeters in diameter and occur anywhere in the brain or spinal cord.

The blood vessel walls in cavernomas are weak and thin and can leak blood into the surrounding brain or spinal cord tissue. This leak can damage surrounding brain tissue and cause ongoing neurological problems. In rare cases, a more severe bleeding event can cause a stroke and even death.

At Penn Medicine’s Cavernous Malformation Center, our specialists provide the highest quality care to diagnose and treat your condition. We use advanced technology not widely available at other centers, like cavernoma-specific MRIs, and have surgeons specifically focused on vascular malformations. We’re the only hospital in our region designated as a Center of Excellence for Cerebral Cavernous Malformation by the Alliance to Cure Cavernous Malformation.

Is a cavernoma a brain tumor?

Cavernous malformations are not brain tumors. They are irregular blood vessels. Unlike cancerous brain tumors, they are not made up of rapidly dividing cells and do not spread to other areas of the body.

Despite not being defined as tumors, about 20 percent of lesions do develop in the brainstem. This is the region at the base of your brain that carries information between your brain and spinal cord. The brainstem also controls many involuntary functions, like breathing and heart rate.

Cavernoma symptoms

Symptoms of cavernous malformations vary widely, depending on their size, number and location. In general, symptoms occur due to bleeding (hemorrhage). Large cavernous malformations can also press on brain and spinal cord structures and cause symptoms.

Cavernous malformation causes

Most cavernous malformations occur randomly, though about 20 percent run in families (familial cavernomas). Familial cavernomas follow an autosomal dominant pattern of inheritance. This means each child has a 50 percent chance of inheriting the condition if a parent has it.

People with familial cavernomas often have many lesions while those without a family history tend to have only one.

Radiation therapy for brain cancer or other diseases can also cause cavernous malformations. These cavernomas usually don’t appear until many years after treatment.

Cavernous malformations often occur next to another type of venous malformation called a developmental venous anomaly (DVA). A DVA is an abnormal arrangement of small veins that is present a birth. People without a family history of cavernous malformations are more likely to have an associated DVA.

Factors that increase the risk of bleeding in cavernomas 

Without treatment, the risk of bleeding within five years of diagnosis of a cavernoma is about 16 percent. People who also have a developmental venous anomaly (DVA) may be at greater risk. Cavernomas located deep in the brain or in the brainstem are also more likely to hemorrhage.

Repeat bleeding is also common. Cavernomas that bleed and stop are likely to bleed again. 

Diagnosing cavernous malformations

The most reliable and specific test for cavernous malformations is an MRI. This test uses radio waves and a strong magnetic field to create detailed pictures of your brain. 

If you have a new diagnosis, your doctor will also recommend genetic counseling and testing. This evaluation determines if you have the familial type of cavernous malformation. It includes a detailed review of your family history and a blood or saliva test to look for certain genetic mutations. If your results are positive, your doctor will also recommend genetic counseling and testing for your relatives. 

Do cavernomas need to be removed?

Doctors usually recommend surgical removal for cavernomas that are bleeding or causing symptoms. Sometimes lesions stop bleeding on their own. But because they may bleed again in the future, your doctor may recommend surgery to remove them. 

Lesions that are not causing any symptoms can usually remain in place with ongoing monitoring. 

Treatment for cavernous malformations at Penn 

Penn’s Cavernous Malformation Center brings together an experienced team of neurologists, neuroradiologists, cerebrovascular surgeons and geneticists. They work together to ensure you receive coordinated, seamless care. 

Treatment options for cavernous malformations include: 

  • Observation, including routine MRIs to watch for any changes in the lesion 
  • Medications to control symptoms such as headaches or seizures 
  • Microsurgery to remove the lesion 

Microsurgical treatment for cavernomas

Microsurgery is a type of open surgery that involves removal of a small section of your skull. The surgeon uses a special microscope and small tools to remove the cavernous malformation. Their goal is to avoid harming areas of the brain that control important functions.

In the spine, the surgeon must remove all or part of the overlying spinal bone (vertebra) to reach the cavernoma (laminectomy). In some cases, the surgeon replaces the vertebra after cavernoma removal (laminoplasty). Surgical removal of cavernomas can be challenging, especially those located in the brainstem.

Surgeons use advanced diagnostic tests to plan for microsurgery. Functional MRI and digital tractography are two tests that map brain activity and make microsurgery as safe as possible.

Penn cerebrovascular surgeons also use the most advanced technologies available to improve safety and patient outcomes, including:

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