title: Urgent resection of a giant left atrial appendage aneurysm and mitral valve replacement in a complex case of Hurler-Scheie syndrome.
abstract: Hurler-Scheie syndrome is a rare lysosomal storage disease affecting the cardiovascular system. Besides the cardiac manifestations, it presents with complications from abnormal proteoglycan deposition in soft tissues in many locations, resulting in joint contractures, paraplegia, impaired vision, airway narrowing and restrictive lung function, to name a few. There are very few reports of surgical management of valvular heart disease due to mucopolysaccharidosis (MPS). We describe the successful management of a patient with an extremely challenging case of mitral valve stenosis and a giant left atrial appendage aneurysm due to MPS type 1 (Hurler-Scheie syndrome). The patient underwent mitral valve replacement and excision of the giant left atrial appendage aneurysm; a similar case has not been previously reported.
authors.affiliation: Department of Cardiac Surgery - Adult Congenital Heart Disease, CMFT, Manchester, UK.
authors.forename: Andrew
authors.initials: A
authors.lastname: Brazier
authors.affiliation: Department of Cardiac Surgery - Adult Congenital Heart Disease, CMFT, Manchester, UK.
authors.forename: Ragheb
authors.initials: R
authors.lastname: Hasan
authors.affiliation: Department of Cardiology - Adult Congenital Heart Disease, CMFT, Manchester, UK.
authors.forename: Petra
authors.initials: P
authors.lastname: Jenkins
authors.affiliation: Department of Cardiac Surgery - Adult Congenital Heart Disease, CMFT, Manchester, UK.
authors.forename: Andreas
authors.initials: A
authors.lastname: Hoschtitzky
mesh_terms: D000328:Adult; D020517:Atrial Appendage / Q000000981:diagnostic imaging / Q000473:pathology*; D004417:Dyspnea / Q000209:etiology; D004452:Echocardiography; D005260:Female; D006322:Heart Aneurysm / Q000000981:diagnostic imaging / Q000473:pathology* / Q000601:surgery; D019918:Heart Valve Prosthesis Implantation; D006801:Humans; D008943:Mitral Valve; D008946:Mitral Valve Stenosis / Q000473:pathology / Q000601:surgery*; D008059:Mucopolysaccharidosis I / Q000150:complications / Q000473:pathology / Q000601:surgery*; D016896:Treatment Outcome