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  • Review Article
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Cavernous malformations: natural history, diagnosis and treatment

Nature Reviews Neurology volume 5, pages 659–670 (2009)Cite this article

Abstract

Cavernous malformations (CMs) consist of dilated vascular channels that have a characteristic appearance on MRI. CMs are usually found intracranially, although such lesions can also affect the spinal cord. Individuals with CMs can present with epilepsy and focal neurological deficits or acute intracranial hemorrhage. In many cases, however, patients with such lesions are asymptomatic at diagnosis. Furthermore, several natural history studies have documented that a substantial proportion of asymptomatic CMs follow a benign course. Surgical resection is recommended for CMs that require intervention. Radiosurgery has been advocated for many lesions that have not been easily accessible by conventional surgery. The outcomes of radiosurgery and surgery for deep lesions, however, vary widely between studies, rendering treatment recommendations for such CMs difficult to make. In addition to reviewing the literature, this article will discuss the current understanding of lesion pathophysiology and explore the controversial issues in the management of CMs, such as when to use radiosurgery or surgery in deep-seated lesions, the treatment of epilepsy, and the safety of anticoagulation.

Key Points

  • Cavernous malformations (CMs) are low-flow vascular malformations that are characterized by endothelium-lined sinusoidal chambers and a distinctive appearance on MRI

  • CMs can be either sporadic or hereditary conditions, with lesions of a familial origin occuring in at least 6% of cases

  • Patients with CMs can present with seizures or intracranial hemorrhage; however, up to 40% of cases are asymptomatic

  • Patients that present with seizures are initially managed pharmacologically; however, surgical resection might be warranted if the seizures increase in severity or become refractory to pharmacological treatment

  • Patients who experience a hemorrhage as a result of their CM require treatment if the hemorrhage produces acute and severe neurological signs and symptoms or if the hemorrhage recurs

  • Surgery is the treatment of choice for superficial CMs or for lesions that cause intractable seizures, whereas radiosurgery might be an option for poorly accessible deep lesions

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Figure 1: KRIT1 protein domain structure.
Figure 2: Potential role of KRIT1 in integrin β1-mediated signaling.
Figure 3: Cavernous malformations on non-contrast-enhanced head CT scans.
Figure 4: Cavernous malformations as depicted on MRI.
Figure 5: Developmental venous anomalies associated with cavernous malformations.
Figure 6: Cavernous malformations on axial susceptibility-weighted images.
Figure 7: A right frontal cavernous malformation depicted on 3T MRI.
Figure 8: Evidence for a cavernous malformation following hemorrhage.
Figure 9: Susceptibility-weighted images of amyloid angiopathy.

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Acknowledgements

This work has been supported by the Salisbury Family Foundation and the Monica and Hermen Greenberg Foundation.

Désirée Lie, University of California, Orange, CA, is the author of and is solely responsible for the content of the learning objectives, questions and answers of the MedscapeCME-accredited continuing medical education activity associated with this article.

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Authors and Affiliations

  1. Department of Neurosurgery, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Sachin Batra, Pablo F. Recinos & Daniele Rigamonti

  2. Department of Radiology, Neuroradiology Division, Johns Hopkins University School of Medicine, Baltimore, MD, USA

    Doris Lin

  3. Department of Anesthesiology, School of Medicine, Texas Tech University, El Paso, TX, USA

    Jun Zhang

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  1. Sachin Batra
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  2. Doris Lin
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  3. Pablo F. Recinos
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Correspondence to Daniele Rigamonti.

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The authors, the Journal Editor H. Wood and the CME questions author D. Lie declare no competing interests

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Batra, S., Lin, D., Recinos, P. et al. Cavernous malformations: natural history, diagnosis and treatment. Nat Rev Neurol 5, 659–670 (2009). https://doi.org/10.1038/nrneurol.2009.177

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