Document Detail


Tricuspid valve thrombus and pulmonary embolus in an infant with homozygous thermolabile methylenetetrahydrofolate reductase and heterozygous prothrombin G20210A variant.
MedLine Citation:
PMID:  13679943     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We describe an unusual and interesting case of a full-term infant presenting at 7 days of life with HSV pneumonitis and a tricuspid valve thrombus ultimately requiring extracorporeal membrane oxygenation. The infant subsequently developed a pulmonary embolus. The infant was found to be heterozygous for the prothrombin G20210A mutation and homozygous for the methylenetetrahydrofolate reductase C667T mutation. The patient was treated with low molecular weight heparin for a total of 3 months and has not had a recurrent thrombosis. This case illustrates that a combination of congenital and acquired thrombophilic risk factors can contribute to a significant thrombotic event.
Authors:
Courtney D Thornburg; Keri A Lattimore; Steven W Pipe
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Journal of perinatology : official journal of the California Perinatal Association     Volume:  23     ISSN:  0743-8346     ISO Abbreviation:  J Perinatol     Publication Date:  2003 Sep 
Date Detail:
Created Date:  2003-09-18     Completed Date:  2004-02-06     Revised Date:  2004-11-17    
Medline Journal Info:
Nlm Unique ID:  8501884     Medline TA:  J Perinatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  513-5     Citation Subset:  IM    
Affiliation:
Department of Pediatrics and Communicable Diseases, University of Michigan, 1500 E. Medical Center Drive, Ann Arbor, MI 48109, USA.
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MeSH Terms
Descriptor/Qualifier:
Coronary Thrombosis / complications,  genetics*
Female
Heart Diseases / complications,  genetics*
Heart Valve Diseases / complications,  genetics*
Heterozygote
Homozygote
Humans
Infant, Newborn
Methylenetetrahydrofolate Reductase (NADPH2) / genetics*
Mutation
Prothrombin / genetics*
Pulmonary Embolism / complications,  genetics*
Thrombosis / genetics*
Tricuspid Valve*
Chemical
Reg. No./Substance:
9001-26-7/Prothrombin; EC 1.5.1.20/Methylenetetrahydrofolate Reductase (NADPH2)

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


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