Medium-term outcome of transcatheter aortic valve replacement in mucopolysaccharidosis type I-HS (Hurler-Scheie syndrome).

ABSTRACT: Mucopolysaccharidoses (MPSs) are inherited metabolic diseases characterized by the deficiency of lysosomal enzymes and the accumulation of glycosaminoglycans in various organs, including the heart. In particular, aortic valve disease causes high morbidity and mortality rates, and sometimes requires surgical aortic valve replacement (SAVR) at a young age. Although transcatheter aortic valve replacement (TAVR) for severe aortic stenosis (AS) in surgical high-risk patients is a well-established treatment, there are few reports of TAVR in MPS and medium- and long-term outcomes are not known. We present a case of severe AS in a MPS patient with high risk for SAVR who was successfully treated with TAVR and has shown a fine medium-term result. A 40-year-old woman with MPS type I-HS (Hurler-Scheie

SUBMITTER: Sugiyama Y 

PROVIDER: S-EPMC10066430 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature