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 syndrome) receiving enzyme replacement therapy as a systemic treatment had complained of syncope and worsening dyspnea, and she was diagnosed with severe AS. The patient had a history of temporary tracheotomy because of the difficulty of endotracheal intubation. Considering risk for general anesthesia, TAVR was performed under local anesthesia. She has improved symptoms for one-and-a-half years. TAVR for severe AS in MPS would be an alternative option for surgical high-risk patients and can demonstrate preferable medium-term outcomes combined with systemic therapies. LEARNING OBJECTIVE: Mucopolysaccharidoses (MPSs) are metabolic diseases affecting various organs. The MPS patients requiring surgical aortic valve replacement (SAVR) for severe aortic stenosis (AS) often have a high surgical risk. However, in MPS, transcatheter aortic valve replacement (TAVR) could be an alternative procedure to SAVR. We report a MPS patient treated with TAVR showing a preferable medium-term outcome. We suggest that TAVR for severe AS in MPS is an acceptable treatment option.