| Thromboembolism and resistance to activated protein C in children with underlying cardiac disease. | |
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MedLine Citation:
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PMID: 8917233 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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. |
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Authors:
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B Kohlhase; H Vielhaber; H G Kehl; D Kececioglu; H G Koch; U Nowak-Göttl |
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Publication Detail:
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Type: Journal Article |
Journal Detail:
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Title: The Journal of pediatrics Volume: 129 ISSN: 0022-3476 ISO Abbreviation: J. Pediatr. Publication Date: 1996 Nov |
Date Detail:
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Created Date: 1996-12-13 Completed Date: 1996-12-13 Revised Date: 2004-11-17 |
Medline Journal Info:
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Nlm Unique ID: 0375410 Medline TA: J Pediatr Country: UNITED STATES |
Other Details:
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Languages: eng Pagination: 677-9 Citation Subset: AIM; IM |
Affiliation:
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Department of Paediatric Cardiology, University Hospital Münster, Germany. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adolescent Child Factor V / genetics* Female Heart Diseases / complications* Humans Infant Infant, Newborn Male Mutation* Protein C / genetics* Retrospective Studies Risk Factors Thromboembolism / etiology, genetics* |
| Chemical | |
Reg. No./Substance:
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0/Protein C; 9001-24-5/Factor V |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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