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Yeungnam Univ J Med > Volume 30(2); 2013 > Article
Yeungnam University Journal of Medicine 2013;30(2):101-104.
DOI: https://doi.org/10.12701/yujm.2013.30.2.101    Published online December 31, 2013.
A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency.
Sang Hyeon Kang, In Chul Park, Duk Song Cho, Hye Jung Lee, Ho Jin Lee, Dong Hyun Lee
Department of Cardiology, Dong-A University College of Medicine, Busan, Korea. rvot@daum.net
Abstract
Von Hippel-Lindau (VHL) disease is an autosomal dominant hereditary disorder caused by a germline mutation of the VHL gene. It is a multi-systemic disorder that is predisposed to benign or malignant tumors of visceral organs such as hemangioblastoma of the central nervous system, renal cell carcinoma, retinal angioma and pheochromocytoma. We report herein a case of VHL disease that initially manifested with aortic valve insufficiency.
Key Words: von Hippel-Lindau disease, Aortic valve insufficiency


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