Cavernoma

What is a Cavernous Malformation?

Overview

A cavernous malformation has many names that are all interchangeable and refer to the same diagnosis. Synonyms that refer to the same diagnosis include:

• Cavernoma
• Cavernous malformation
• Cavernous angioma
• Cavernous hemangioma
• Cerebral cavernous malformation (CCM)

Cavernous malformations are a vascular mass made up of abnormal dilated blood vessels characterized by distended blood-filled “caverns.” Vessels of a cavernous malformation mass have a tendency to leak and bleed because they lack the proper junctions between neighboring cells as well as the necessary structural support from smooth muscle and the stretchable material (elastin) that normally supports regular blood vessels.

Cavernous malformations are dynamic structures, changing in size and number over time and can range in size from a few millimeters to several centimeters.

Who is Affected?

Cavernous malformations are present in up to 0.5% of the general population, and they account for a large proportion (8-15%) of all brain and spinal vascular malformations. While more common in adults, people of all ages may be affected by them, and approximately 25% of all diagnosed cavernous malformations are found in children.

The majority of cavernous malformations that are diagnosed occur in individuals with only a single lesion and no family history of the disease. These cases are termed sporadic meaning they are not caused by an inherited genetic mutation.

Individuals with the familial (genetic) form of cavernous malformations are likely to have multiple lesions and may be more likely to experience symptoms associated with the disorder.

Cavernous Malformation Symptomsrn& Causes

Symptoms

In many cases, a cavernous malformation causes no symptoms and can go unnoticed.

Leakage and bleeding from cavernous malformations is the underlying cause of clinical symptoms. Depending on the size and location of the cavernous malformation, this bleeding can cause brain damage and even in rare cases death. However, bleeding from cavernous malformations is often less severe than bleeding from aneurysms or arteriovenous malformations (AVMs) because they do not contain high-pressure arterial blood flow.

Symptoms of a ruptured cavernous malformation often come on suddenly and include a sudden, severe headache that is different from past headaches, nausea and vomiting, sensitivity to light, fainting or loss of consciousness and seizures.

Causes

Cavernous malformations are commonly associated with developmental venous anomalies (DVA) also called venous malformations or venous angiomas. A DVA is a type of vascular malformation that, on its own, does not cause any clinical symptoms.

At least 40% of sporadic cavernous malformations may develop within the vicinity of a DVA. The significance of DVA association with sporadic lesions is unclear. Perhaps this observation may suggest a difference in developmental mechanisms between sporadic and familial cavernous malformations.

When to See a Doctor

You should seek medical attention immediately if you experience sudden neurological symptoms such as:

• Sudden, severe headache unlike previous headaches
• Seizures or unexplained loss of consciousness
• Weakness or numbness affecting one side of the body
• Sudden vision changes or double vision
• Difficulty speaking, understanding speech, or problems with coordination

Even if symptoms resolve quickly, they may indicate a bleed or other neurological event that requires prompt evaluation. For individuals already diagnosed with a cavernous malformation, any new or worsening symptoms should be reported to your doctor as soon as possible.

Cavernous Malformation Diagnosis

While a new diagnosis of brain cavernous malformation can produce natural anxious responses in many patients, the most important thing to remember is that you are not alone. cavernous malformations can occur in as many as 1 out of every 200 people and our team of experts is here to help you understand your condition and determine an optimal, personalized treatment plan for your needs.

Many cavernous malformations are found incidentally during brain imaging for unrelated reasons, such as headaches or after a minor head injury. Others are diagnosed following symptoms like seizures, neurological changes, or signs of bleeding in the brain.

Cavernous malformations are usually detected through an MRI scan, which provides detailed images of the brain and can reveal the size, location, and characteristics of the lesion. Special MRI sequences such as susceptibility-weighted imaging (SWI) and gradient echo improve the ability to detect even small cavernous malformations or multiple lesions.

In some cases, a CT scan or neurological examination may be used to evaluate symptoms or rule out bleeding. For patients with multiple cavernous malformations or a family history, genetic testing may be recommended to identify hereditary forms of the condition.

If surgery or treatment is not immediately needed, your care team will recommend regular follow-up visits and imaging to monitor the cavernous malformation over time, ensuring that any changes are detected early.

Cavernous Malformation Treatmentrn& Outcomes

Treatment Options

Treatment for cavernous malformations depends on factors such as the size and location of the lesion, whether symptoms are present, history of bleeding, and the patient’s overall health. Many cavernous malformations are discovered incidentally and can be safely monitored without intervention.

Patient Outcomes

The outlook for someone with a cavernous malformation varies depending on factors such as size, location, number of lesions, and whether bleeding has occurred.

• Asymptomatic cavernous malformations often remain stable for years and may never cause problems.
• Cavernous malformations that have bled carry a higher risk of future bleeds, especially within the first two years after the initial event.
• Surgery, when needed, can often be curative for accessible lesions, with many patients experiencing resolution or significant improvement of symptoms.
• Long-term monitoring is important, as cavernous malformations can change in size or number over time.

Managing A Cavernous Malformation

Management of cavernous malformations often involves a team of specialists, including neurosurgeons, neurologists, neuroradiologists, and genetic counselors. Patients with multiple cavernous malformations may have a familial form of the condition linked to gene changes and could benefit from genetic counseling and testing.

Living with a cavernous malformation requires a proactive approach:

• Attend all scheduled follow-up appointments and imaging studies.
• Take prescribed medications as directed, particularly anti-seizure medications if you have had seizures.
• Avoid activities that carry a high risk of head injury.
• Discuss with your doctor any new medications, as some may affect bleeding risk.
• Maintain a healthy lifestyle, including regular exercise, balanced diet, and stress management.

Meet our Expert Specialists & Surgeons

Samuel Hou, MD, PhD

Neurointerventional Surgery

Adi Iyer, MD, MS

Neurosurgery, Neuro-interventional Surgery

Ashkan Mowla, MD

Neurointerventional Surgery

Sandra Narayanan, MD

Vascular Neurology, Neurointerventional Surgery

Christopher Putman, MD

Neurointerventional Surgery

Jason Tarpley, MD, PhD

Neurointerventional Surgery

Experience Compassionate, Expert Care

At Pacific Neuroscience Institute and our partner Providence hospitals across Southern California, our multidisciplinary team focuses on personalized treatment plans combining advanced technology with a patient-first approach. Our specialists work together to design personalized treatment plans. From diagnosis through long-term follow-up, our goal is to help you live your life to the fullest while minimizing risks and symptoms.

Learn More About a Cavernous Malformation

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