Document Detail


Mitral valve prolapse and ophthalmoplegia: a progressive, cardioneurologic syndrome.
MedLine Citation:
PMID:  6992676     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Disorders characterized by both neurologic (ataxia, ophthalmoplegia, ptosis, neuromyopathy) and cardiologic (heart block, cardiomyopathy) abnormalities have been previously called the "ophthalmoplegia plus" syndromes. Most are not due to a specific enzyme defect or metabolic abnormality and thus may be similar phenotypic expressions of diverse causes. We studied seven patients with progressive external ophthalmoplegia and variable ataxia, with mitral valve prolapse and mitral regurgitation that progressed in severity as did the neuromuscular manifestations. Abnormal skeletal muscle biopsies showed "ragged-red" fibers or congenital fiber type disproportion; serum alanine levels were elevated; in-vivo and in-vitro tests of pyruvate metabolism gave abnormal results; C4 complement was decreased; and the patients' fibroblasts bound immunoglobulin when incubated with autologous serum. These data suggest a distinct neuromuscular disorder with metabolic and immunologic features associated with mitral valve prolapse and progressive mitral regurgitation.
Authors:
J R Darsee; C L Miklozek; S B Heymsfield; L C Hopkins; N K Wenger
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, U.S. Gov't, P.H.S.; Retracted Publication    
Journal Detail:
Title:  Annals of internal medicine     Volume:  92     ISSN:  0003-4819     ISO Abbreviation:  Ann. Intern. Med.     Publication Date:  1980 Jun 
Date Detail:
Created Date:  1980-08-25     Completed Date:  1980-08-25     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0372351     Medline TA:  Ann Intern Med     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  735-41     Citation Subset:  AIM; IM    
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MeSH Terms
Descriptor/Qualifier:
Adult
Amino Acids / blood
Echocardiography
Humans
Male
Mitral Valve Insufficiency / complications
Mitral Valve Prolapse / complications*,  diagnosis,  immunology,  metabolism,  pathology
Muscles / pathology
Myocardium / metabolism
Ophthalmoplegia / complications*,  immunology,  metabolism,  pathology
Pyruvates / metabolism
Syndrome
Chemical
Reg. No./Substance:
0/Amino Acids; 0/Pyruvates
Comments/Corrections
Retraction In:
Ann Intern Med. 1983 Aug;99(2):275-6   [PMID:  6349461 ]

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