Rare cause of mitral stenosis: Clinically suspected Hurler-Scheie syndrome

Abstract

Mucopolysaccharidosis Type I is a rare inherited metabolic disorder with an autosomal recessive pattern of inheritance. 
The disease is characterized by the accumulation of glycosaminoglycans (GAGs) within lysosomes due to a deficiency of 
the enzyme α-L-iduronidase. Impaired degradation of GAGs results in their progressive accumulation in the lysosomes 
of various organs and tissues, including the eyes, central nervous system, cardiovascular system, gastrointestinal tract, 
skeletal system, and respiratory system. We present a case of clinically suspected Hurler-Scheie syndrome associated 
with severe mitral stenosis.