Case Report

Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case


Mucopolysaccharidosis (MPS) syndrome is an inherited metabolic disorder. In more than half of the patients with MPS syndrome, heart valve involvement is reported; however, combined aortic and mitral valve stenosis in MPS syndrome type I-S is very rare. We describe a 39-year-old man with severe mitral and aortic valve stenosis due to MPS syndrome type I-S. Transthoracic and transesophageal echocardiography revealed severe thickening and calcification in the aortic and mitral valves with severe left ventricular hypertrophy. The coronary arteries were normal in angiography.

1. Kitabayashi K, Matsumiya G, Ichikawa H, Matsue H, Shimamura K, Sawa Y. Surgical treatment for mitral stenosis in Scheie's syndrome: mucopolysaccharidosis type I-S. Ann Thorac Surg 2007;84:654-655.
2. Leal GN, de Paula AC, Leone C, Kim CA. Echocardiographic study of paediatric patients with mucopolysaccharidosis. Cardiol Young 2010;20:254-261.
3. Butman SM, Karl L, Copeland JG. Combined aortic and mitral valve replacement in an adult with Scheie's disease. Chest 1989;96:209-210.
4. Fischer TA, Lehr HA, Nixdorff U, Meyer J. Combined aortic and mitral stenosis in mucopolysaccharidosis type I-S (Ullrich-Scheie syndrome). Heart 1999;81:97-99.
5. Ellinwood NM, Colle MA, Weil MA, Casal ML, Vite CH, Wiemelt S, Hasson CW, O'Malley TM, He X, Prociuk U, Verot L, Melniczek JR, Lannon A, Aguirre GD, Knox VW, Evans SM, Vanier MT, Schuchman EH, Walkley SU, Haskins ME. Bone marrow transplantation for feline mucopolysaccharidosis I. Mol Genet Metab 2007;91:239-250.
6. Beck M, Arn P, Giugliani R, Muenzer J, Okuyama T, Taylor J, Fallet S. The natural history of MPS I: global perspectives from the MPS I Registry. Genet Med 2014;16:759-765.
7. Giugliani R, Federhen A, Rojas MV, Vieira T, Artigal├ís O, Pinto LL, Azevedo AC, Acosta A, Bonfim C, Louren├žo CM, Kim CA, Horovitz D, Bonfim D, Norato D, Marinho D, Palhares D, Santos ES, Ribeiro E, Valadares E, Guarany F, de Lucca GR, Pimentel H, de Souza IN, Correa J Sr, Fraga JC, Goes JE, Cabral JM, Simionato J, Llerena J, Jr, Jardim L, Giuliani L, da Silva LC, Santos ML, Moreira MA, Kerstenetzky M, Ribeiro M, Ruas N, Barrios P, Aranda P, Honjo R, Boy R, Costa R, Souza C, Alcantara FF, Avilla SG, Fagondes S, Martins AM. Mucopolysaccharidosis I, II, and VI: brief review and guidelines for treatment. Genet Mol Biol 2010;33:589-604.
8. Sugiura K, Kubo T, Ochi Y, Baba Y, Hirota T, Yamasaki N, Kitaoka H. Cardiac manifestations and effects of enzyme replacement therapy for over 10 years in adults with the attenuated form of mucopolysaccharidosis type I. Mol Genet Metab Rep 2020;25:100662.
IssueVol 16 No 1 (2021): J Teh Univ Heart Ctr QRcode
SectionCase Report(s)
Mucopolysaccharidosis I Mitral valve stenosis Aortic valve stenosis Heart valve diseases

Rights and permissions
Creative Commons License This work is licensed under a Creative Commons Attribution-NonCommercial 4.0 International License.
How to Cite
Sadeghian H, Sadeghian A, Eslami B, Abbasi SH, Lotfi-Tokaldany M. Combined Aortic and Mitral Valve Stenosis in Mucopolysaccharidosis Syndrome Type I-S: A Report of a Rare Case. J Tehran Heart Cent. 16(1):31-33.