Highlights a rare presentation of von Hippel-Lindau disease initially manifesting as aortic valve insufficiency.
Consider VHL in unexplained aortic insufficiency; extends phenotypic spectrum but leaves association unproven.
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.
No takes yet. Share an insight, caveat, or question.
Kang et al. (2013) studied this question.
Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context: