A 24-year-old man presented with New York Heart Association (NYHA) grade 3 dyspnoea. He appeared dwarf-like with coarse facial features. General examination revealed cubitus valgus, claw hand, genu valgus, hallus valgus and equinovarus deformity of the foot. Systemic examination revealed cardiomegaly, a pansystolic mitral regurgitation (MR) murmur, hepatosplenomegaly and a normal IQ. Examination suggested multisystem disease involving the dermatological, musculoskeletal, cardiac and gastrointestinal system. Echocardiography showed thickened mitral and aortic valves, and moderate MR. We considered this as a storage disorder, particularly the mucopolysaccharidosis, because of its typical cardiac involvement. Further evaluation confirmed the diagnosis of Hunter syndrome. The patient was considered for enzyme replacement therapy, following which he improved. This rare disease must be considered whenever a physician encounters a young patient with multisystem involvement. In view of the availability of disease-specific therapy, an early diagnosis and prompt treatment with a multidisciplinary approach can improve the quality of life of these patients.
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