Document Detail

Echocardiographic study of cardiac abnormalities in families of patients with Marfan's syndrome.
MedLine Citation:
PMID:  4045026     Owner:  NLM     Status:  MEDLINE    
Twelve patients (5 male and 7 female; mean age 17.7 +/- 12.3 years, range 5 to 42) with Marfan's syndrome and 48 of their first degree relatives (16 male and 22 female; mean age 29.8 +/- 17.3 years, range 4 to 60) were evaluated for cardiac abnormalities by echocardiography. Of the patients with Marfan's syndrome, aortic valve prolapse was present in 1, tricuspid valve prolapse in 4, mitral valve prolapse in 12 and aortic root dilation in 10. Of the 48 first degree relatives of these 12 patients, tricuspid valve prolapse was diagnosed in 3, mitral valve prolapse in 15 and aortic root dilation in 12; aortic valve prolapse was not observed in any of these subjects. Of the 60 persons studied in these 12 kindreds, 28 (47%) had cardiac involvement. Among the 28 with cardiac involvement, aortic valve prolapse was observed in 1 (3.5%), tricuspid valve prolapse in 7 (25%), mitral valve prolapse in 27 (96%) and aortic root dilation in 22 (79%). Mitral valve prolapse was also present in the seven subjects with tricuspid valve prolapse and one with aortic valve prolapse. In 32 of the 60 persons studied in the 12 families, at least one abnormality of the cardiac, skeletal or ophthalmologic system was observed. Nineteen subjects were younger than 18 years of age; all had cardiac involvement associated with Marfan's syndrome. The notably earlier presentation of cardiac involvement in young persons may be responsible for a shorter life span in this group.(ABSTRACT TRUNCATED AT 250 WORDS)
C W Pan; C C Chen; S P Wang; T L Hsu; B N Chiang
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Journal of the American College of Cardiology     Volume:  6     ISSN:  0735-1097     ISO Abbreviation:  J. Am. Coll. Cardiol.     Publication Date:  1985 Nov 
Date Detail:
Created Date:  1985-11-21     Completed Date:  1985-11-21     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  8301365     Medline TA:  J Am Coll Cardiol     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  1016-20     Citation Subset:  AIM; IM    
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MeSH Terms
Aortic Valve*
Aortic Valve Insufficiency / diagnosis
Child, Preschool
Echocardiography* / methods
Heart / physiopathology*
Heart Valve Diseases / diagnosis
Marfan Syndrome / genetics,  physiopathology*
Middle Aged
Mitral Valve Prolapse / diagnosis*
Tricuspid Valve*

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

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