Transcatheter embolization of arteriovenous malformations in Cowden disease

A patient with Cowden disease and multiple arteriovenous malformations (AVM s) that resulted in high output heart failure is described. Cowden disease is a familial syndrome characterized by endodermal, mesodermal and ectoderm al dysplasia causing benign and malignant tumors of the skin, breast, gastr ointestinal tract, and thyroid gland. Our patient had gastrointestinal poly posis, a right renal tumor, a left lung tumor, an adenomatous goiter, and t ypical dermatologic findings such as facial papules, acral keratosis, gingi val papillomatosis and hemangiomas. AVMs were observed in the pelvis, cervi cal vertebra, liver, and right supraclavicular area. Transcatheter emboliza tion was performed 7 times for the pelvic AVMs, but the effect decreased wi th repetition and the patient died of heart failure 2 years after the first embolization. The serum levels of tissue plasminogen activator (t-PA), pla telet-derived growth factor (PDGF), hepatocyte growth factor (HGF), vascula r endothelial growth factor (VEGF), and transforming growth factor beta 1 w ere high, suggesting that these angiogenic molecules may play a role in the pathogenesis of AVMs in Cowden disease.