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European Journal of Pediatrics
Published in: European Journal of Pediatrics 9/2011

01-09-2011 | Short Report

Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype

Authors: Lubica Kovacikova, Peter Skrak, Martin Zahorec

Published in: European Journal of Pediatrics | Issue 9/2011

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Abstract

At her first day of life, a neonate presented with severe cyanosis and a mass obstructing the right ventricle outflow tract. Prostagladin E1 was necessary to provide pulmonary blood flow. The mass was removed using extracorporeal bypass surgery; the right ventricle was dilated, and the pulmonary valve leaflets were damaged. Sternal closure was delayed because of bleeding and poor cardiac performance. Histology demonstrated that the mass was a mixed thrombus. Investigation revealed homozygous 677TT genotype of the methylenetetrahydrofolate reductase. In conclusion, a life-threatening thrombotic event such as an intracardiac thrombus obstructing the right ventricle outflow tract can occur in a neonatal age. Since the event can be a result of a combination of acquired and congenital thrombogenic risk factors, an extensive screening including DNA-based mutation analysis should be performed.
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Metadata
Title
Thrombus obstructing the right ventricle outflow tract in a neonate with methylenetetrahydrofolate reductase 677TT genotype
Authors
Lubica Kovacikova
Peter Skrak
Martin Zahorec
Publication date
01-09-2011
Publisher
Springer-Verlag
Published in
European Journal of Pediatrics / Issue 9/2011
Print ISSN: 0340-6199
Electronic ISSN: 1432-1076
DOI
https://doi.org/10.1007/s00431-011-1442-5

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