Transcatheter Aortic Valve Replacement for Alkaptonuria-Associated Aortic Stenosis.

Abstract

Alkaptonuria, a rare disorder of homogentisic acid metabolism, can lead to aortic valvular calcification and stenosis. This report describes the case of a 71-year-old woman with alkaptonuria-associated aortic stenosis in whom minimally invasive surgical aortic valve replacement was attempted but abandoned because of extensive aortic root calcification. She subsequently underwent transfemoral transcatheter aortic valve replacement with an Edwards SAPIEN 3 valve (Edwards Lifesciences, Irvine, CA). This report of transcatheter aortic valve replacement for treating alkaptonuria-associated aortic stenosis expands the potential treatment options for these patients.