Yeungnam Univ J Med.  2013 Dec;30(2):101-104.

A Case of von Hippel-Lindau Disease with Aortic Valve Insufficiency

• Kang SH
• Park IC
• Cho DS
• Lee HJ
• Lee HJ
• Lee DH

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.

Keyword

von Hippel-Lindau disease; Aortic valve insufficiency

MeSH Terms

Aortic Valve Insufficiency*
Aortic Valve*
Carcinoma, Renal Cell
Central Nervous System
Germ-Line Mutation
Hemangioblastoma
Hemangioma
Pheochromocytoma
Retinaldehyde
von Hippel-Lindau Disease*
Retinaldehyde