Document Detail

Cardiac involvement in mucolipidosis. Importance of non-invasive studies for detection of cardiac abnormalities.
MedLine Citation:
PMID:  6854951     Owner:  NLM     Status:  MEDLINE    
Although mucolipidosis, a fatal metabolic storage disorder, is associated with cardiovascular abnormalities, detailed, non-invasive cardiac examinations have not been well documented. We studied 4 children with type II and type III mucolipidosis, 3 of whom had unequivocal evidence of aortic regurgitation characterized by phonocardiography and M-mode echocardiography. Two-dimensional echocardiography showed an aortic valve prolapse in 3, a mitral valve prolapse in 2 and a tricuspid valve prolapse in 1. The QT interval was prolonged in 2 cases. In 1 autopsy case, we found considerably thickened and retracted aortic, mitral, and tricuspid valves, and accumulation of the foam cells in the myocardium. Echocardiography revealed similar findings in another 3 cases. We conclude that cardiac manifestations in this disorder should be examined carefully particularly by the use of echocardiography which is an excellent technique for detecting cardiovascular abnormalities in mucolipidosis.
Y Satoh; K Sakamoto; Y Fujibayashi; T Uchiyama; N Kajiwara; M Hatano
Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Japanese heart journal     Volume:  24     ISSN:  0021-4868     ISO Abbreviation:  Jpn Heart J     Publication Date:  1983 Jan 
Date Detail:
Created Date:  1983-07-29     Completed Date:  1983-07-29     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0401175     Medline TA:  Jpn Heart J     Country:  JAPAN    
Other Details:
Languages:  eng     Pagination:  149-59     Citation Subset:  IM    
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MeSH Terms
Aortic Valve Insufficiency / complications,  diagnosis*
Child, Preschool
Echocardiography / methods
Heart Valve Diseases / diagnosis*
Mitral Valve Prolapse / complications,  diagnosis*
Mucolipidoses / complications*
Tricuspid Valve Prolapse / complications,  diagnosis*

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