Document Detail

Aortic root dilatation and mitral valve prolapse in the fragile X syndrome.
MedLine Citation:
PMID:  3953647     Owner:  NLM     Status:  MEDLINE    
Forty patients with fragile X [fra(X)] or Martin-Bell syndrome, confirmed by chromosome analysis, underwent full cardiac evaluation including physical examination, chest film, electrocardiography (ECG), and M-mode and 2-dimensional echocardiography. Thirty-four males and six females were studied. Although all patients were asymptomatic, seven males were found to have mild aortic root dilatation. All seven also had evidence of mitral valve prolapse. Twenty-two (55%) of the study patients had mitral valve prolapse with either a click or murmur heard on physical examination and confirmation by M-mode echocardiography. The frequency of mitral valve prolapse was the same in males and females, but 80% of males older than 18 years had mitral valve prolapse. These findings support the hypothesis of a connective tissue dysplasia in the fra(X) syndrome.
J P Loehr; D P Synhorst; R R Wolfe; R J Hagerman
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  American journal of medical genetics     Volume:  23     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:    1986 Jan-Feb
Date Detail:
Created Date:  1986-04-04     Completed Date:  1986-04-04     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  189-94     Citation Subset:  IM    
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MeSH Terms
Aorta / pathology*
Child, Preschool
Connective Tissue Diseases / complications,  genetics
Dilatation, Pathologic / complications,  genetics
Fragile X Syndrome / complications*,  genetics
Mitral Valve Prolapse / complications,  genetics*
Sex Chromosome Aberrations / complications*

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