A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency.
10.12701/yujm.2013.30.2.101
- Author:
Sang Hyeon KANG
1
;
In Chul PARK
;
Duk Song CHO
;
Hye Jung LEE
;
Ho Jin LEE
;
Dong Hyun LEE
Author Information
1. Department of Cardiology, Dong-A University College of Medicine, Busan, Korea. rvot@daum.net
- Publication Type:Case Report
- Keywords:
von Hippel-Lindau disease;
Aortic valve insufficiency
- MeSH:
Aortic Valve Insufficiency*;
Aortic Valve*;
Carcinoma, Renal Cell;
Central Nervous System;
Germ-Line Mutation;
Hemangioblastoma;
Hemangioma;
Pheochromocytoma;
Retinaldehyde;
von Hippel-Lindau Disease*
- From:Yeungnam University Journal of Medicine
2013;30(2):101-104
- CountryRepublic of Korea
- Language:English
-
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.
