Document Detail

Thromboembolism and resistance to activated protein C in children with underlying cardiac disease.
MedLine Citation:
PMID:  8917233     Owner:  NLM     Status:  MEDLINE    
OBJECTIVES: In the majority of cases, resistance to activated protein C is caused by the point mutation Arg506 to Gln in the factor V gene and has emerged as the most important hereditary cause of thromboembolism. METHODS: To determine to what extent resistance to activated protein C was present in children with thromboembolism and underlying cardiac disease, its occurrence was retrospectively investigated. By using a method based on activated partial thromboplastin time, with DNA technique derived from the polymerase chain reaction, we investigated nine children with underlying cardiac disease in whom thromboembolism had previously occurred. RESULTS: Heterozygous Arg506-to-Gln mutation in the factor V gene was diagnosed in five of the nine children investigated. In addition, protein C type I deficiency w as found in three patients, and two of the nine children showed increased lipoprotein (a) plasma values. Risk factors were present in all children with symptoms. CONCLUSIONS: These data indicate that deficiencies in the protein C anticoagulant pathway are likely to play an important role in the early manifestation of thromboembolism in children with underlying cardiac disease.
B Kohlhase; H Vielhaber; H G Kehl; D Kececioglu; H G Koch; U Nowak-Göttl
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Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  The Journal of pediatrics     Volume:  129     ISSN:  0022-3476     ISO Abbreviation:  J. Pediatr.     Publication Date:  1996 Nov 
Date Detail:
Created Date:  1996-12-13     Completed Date:  1996-12-13     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  0375410     Medline TA:  J Pediatr     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  677-9     Citation Subset:  AIM; IM    
Department of Paediatric Cardiology, University Hospital Münster, Germany.
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MeSH Terms
Factor V / genetics*
Heart Diseases / complications*
Infant, Newborn
Protein C / genetics*
Retrospective Studies
Risk Factors
Thromboembolism / etiology,  genetics*
Reg. No./Substance:
0/Protein C; 9001-24-5/Factor V

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