Journal of Yeungnam Medical Science
- 제30권2호
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- Pages.101-104
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- 2013
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- 2799-8010(eISSN)
DOI QR Code
A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency
- Kang, Sang Hyeon (Department of Cardiology, Dong-A University College of Medicine) ;
- Park, In Chul (Department of Cardiology, Dong-A University College of Medicine) ;
- Cho, Duk Song (Department of Cardiology, Dong-A University College of Medicine) ;
- Lee, Hye Jung (Department of Cardiology, Dong-A University College of Medicine) ;
- Lee, Ho Jin (Department of Cardiology, Dong-A University College of Medicine) ;
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Lee, Dong Hyun
(Department of Cardiology, Dong-A University College of Medicine)
- 투고 : 2013.04.14
- 심사 : 2013.05.24
- 발행 : 2013.12.31
초록
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.