Document Detail

Mitral valve prolapse: a consistent manifestation of type IV Ehlers-Danlos syndrome. The pathogenetic role of the abnormal production of type III collagen.
MedLine Citation:
PMID:  7237708     Owner:  NLM     Status:  MEDLINE    
To evaluate whether abnormal production of type III collagen, the characteristic biochemical feature of patients with the type IV Ehlers-Danlos syndrome, consistently predisposes to mitral valve prolapse, we evaluated the family of a proband with classic type IV Ehlers-Danlos syndrome. Production of type III collagen was assessed with the use of cultured skin fibroblasts. Mitral valve prolapse was detected by M-mode and two-dimensional echocardiography. Biochemical abnormalities in the production of type III collagen and echocardiographic findings of mitral valve prolapse were completely concordant. All patients with abnormal production of type III collagen had mitral valve prolapse and all subjects with normal production of type III collagen had entirely normal echocardiograms. Six of the eight patients with abnormal production of type III collagen had subtle cutaneous abnormalities. The consistent association of abnormal production of type III collagen and mitral valve prolapse in this family suggests that this abnormality of collagen may give rise to mitral valve prolapse.
A S Jaffe; E M Geltman; G E Rodey; J Uitto
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Circulation     Volume:  64     ISSN:  0009-7322     ISO Abbreviation:  Circulation     Publication Date:  1981 Jul 
Date Detail:
Created Date:  1981-08-10     Completed Date:  1981-08-10     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0147763     Medline TA:  Circulation     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  121-5     Citation Subset:  AIM; IM    
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MeSH Terms
Collagen / biosynthesis*
Ehlers-Danlos Syndrome / complications*,  diagnosis,  etiology
HLA Antigens
Middle Aged
Mitral Valve Prolapse / complications*,  diagnosis,  etiology
Physical Examination
Skin Diseases / diagnosis
Grant Support
Reg. No./Substance:
0/HLA Antigens; 9007-34-5/Collagen

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

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