Cavernous malformations (CMs) are low-pressure angiographically occult lesions, composed of blood-filled sinusoidal locules known as "caverns." Although these lesions were once believed to be congenital in nature, there is compelling evidence to support de novo formation of CMs as well. They can occur as sporadic lesions or be inherited in an autosomal-dominant phenotype in familial forms of the disease. The pathophysiology of CMs is commonly believed to be due to abnormal vascular pathology. Three genes, CCM1, CCM2, and CCM3, have been extensively studied for their role in vascular pathology, resulting in abnormal angiogenesis and compromising the structural integrity of vessel endothelial cell. The expression of growth factors has been researched to gain insight into the dynamic behavior of CM lesions. Gross and microscopic images are utilized in this chapter to illustrate the pathologic findings of these lesions. Ultrastructural analysis demonstrates the aberrations in CM endothelial cells and structural integrity that may provide better understanding into how and why these lesions have a propensity to hemorrhage.
Keywords: angiogenesis; cavernous malformation; epilepsy; pathophysiology; ultrastructural analysis.
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