PMID- 25952974
OWN - NLM
STAT- MEDLINE
DCOM- 20160201
LR  - 20181113
IS  - 1757-790X (Electronic)
IS  - 1757-790X (Linking)
VI  - 2015
DP  - 2015 May 7
TI  - Hunter syndrome with its typical heart: a close mimic to rheumatic heart.
LID - 10.1136/bcr-2015-209359 [doi]
LID - bcr2015209359
AB  - 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.
CI  - 2015 BMJ Publishing Group Ltd.
FAU - Madireddi, Jagadesh
AU  - Madireddi J
AD  - Department of Internal Medicine, Kasturba Medical College, Manipal, Karnataka, 
      India.
FAU - P, Sarada
AU  - P S
AD  - Department of Internal Medicine, Kasturba Medical College, Manipal, Karnataka, 
      India.
FAU - Shetty, R K
AU  - Shetty RK
AD  - Department of Cardiology, Kasturba Medical College, Manipal, Karnataka, India.
FAU - Prabhu, Mukhyaprana
AU  - Prabhu M
AD  - Department of Internal Medicine, Kasturba Medical College, Manipal, Karnataka, 
      India.
FAU - K M, Girish
AU  - K M G
AD  - Department of Pediatrics, Kasturba Medical College, Manipal, Karnataka, India.
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20150507
PL  - England
TA  - BMJ Case Rep
JT  - BMJ case reports
JID - 101526291
SB  - IM
EIN - BMJ Case Rep. 2016;2016. pii: bcr2015209359corr1. doi: 
      10.1136/bcr-2015-209359corr1. PMID: 26933182
MH  - *Abnormalities, Multiple
MH  - Adult
MH  - Cardiomegaly/*etiology
MH  - Echocardiography
MH  - Enzyme Replacement Therapy
MH  - Heart Valves/*pathology
MH  - Humans
MH  - Male
MH  - Mucopolysaccharidosis II/*diagnosis/drug therapy/pathology
MH  - Rare Diseases
MH  - Rheumatic Heart Disease/pathology
MH  - Young Adult
PMC - PMC4434344
EDAT- 2015/05/09 06:00
MHDA- 2016/02/02 06:00
PMCR- 2017/04/22
CRDT- 2015/05/09 06:00
PHST- 2015/05/09 06:00 [entrez]
PHST- 2015/05/09 06:00 [pubmed]
PHST- 2016/02/02 06:00 [medline]
PHST- 2017/04/22 00:00 [pmc-release]
AID - bcr-2015-209359 [pii]
AID - 10.1136/bcr-2015-209359 [doi]
PST - epublish
SO  - BMJ Case Rep. 2015 May 7;2015:bcr2015209359. doi: 10.1136/bcr-2015-209359.