Hunter syndrome with its typical heart: a close mimic to rheumatic heart

Madireddi, Jagadesh and Sarada, P and Shetty, RK and Prabhu, Mukhyaprana and Girisha, KM (2015) Hunter syndrome with its typical heart: a close mimic to rheumatic heart. BMJ Case Report. pp. 1-5. ISSN 1757-790X

[img] PDF
hunter.pdf - Published Version
Restricted to Registered users only

Download (3MB) | Request a copy


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-spe cific therapy, an early diagnosis and prompt treatment with a multidisciplinary approach can improve the quality of life of these patients.

Item Type: Article
Subjects: Medicine > KMC Manipal > Cardiology
Medicine > KMC Manipal > Medicine
Medicine > KMC Manipal > Paediatrics
Depositing User: KMC Manipal
Date Deposited: 27 May 2015 06:51
Last Modified: 27 May 2015 06:51

Actions (login required)

View Item View Item