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Transcatheter embolization of arteriovenous malformations in Cowden disease
1Department of Cardiovascular Medicine, Toranomon Hospital, Tokyo, Japan.
Insights
Cowden disease patients can develop multiple arteriovenous malformations (AVMs) leading to heart failure. High levels of angiogenic molecules suggest a role in AVM development in this syndrome.
Area of Science:
- Vascular biology
- Genetics and rare diseases
Background:
- Cowden disease is a rare autosomal dominant disorder characterized by genetic mutations leading to increased cancer risk.
- It presents with mucocutaneous lesions, macrocephaly, and a high incidence of benign and malignant tumors.
Observation:
- A patient with Cowden disease presented with numerous arteriovenous malformations (AVMs) in multiple locations.
- The patient exhibited characteristic Cowden disease features including polyposis, tumors, and dermatologic findings.
- AVMs led to high-output heart failure, refractory to repeated embolization.
Findings:
- Elevated serum levels of angiogenic factors including tissue plasminogen activator (t-PA), platelet-derived growth factor (PDGF), hepatocyte growth factor (HGF), vascular endothelial growth factor (VEGF), and transforming growth factor beta1 were observed.
- These elevated factors suggest a potential role in the pathogenesis of AVMs in Cowden disease.
Implications:
- Understanding the role of angiogenic factors in Cowden disease-associated AVMs may lead to targeted therapies.
- This case highlights the complex vascular manifestations of Cowden disease and the challenges in managing AVMs.
- Further research into the molecular mechanisms underlying AVM formation in Cowden disease is warranted.
Abstract:
A patient with Cowden disease and multiple arteriovenous malformations (AVMs) that resulted in high output heart failure is described. Cowden disease is a familial syndrome characterized by endodermal, mesodermal and ectodermal dysplasia causing benign and malignant tumors of the skin, breast, gastrointestinal tract, and thyroid gland. Our patient had gastrointestinal polyposis, a right renal tumor, a left lung tumor, an adenomatous goiter, and typical dermatologic findings such as facial papules, acral keratosis, gingival papillomatosis and hemangiomas. AVMs were observed in the pelvis, cervical vertebra, liver, and right supraclavicular area. Transcatheter embolization was performed 7 times for the pelvic AVMs, but the effect decreased with repetition and the patient died of heart failure 2 years after the first embolization. The serum levels of tissue plasminogen activator (t-PA), platelet-derived growth factor (PDGF), hepatocyte growth factor (HGF), vascular endothelial growth factor (VEGF), and transforming growth factor beta1 were high, suggesting that these angiogenic molecules may play a role in the pathogenesis of AVMs in Cowden disease.