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

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

  • نوع فایل : کتاب
  • زبان : انگلیسی
  • مؤلف : Lubica Kovacikova & Peter Skrak & Martin Zahorec
  • چاپ و سال / کشور: 2011

Description

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.
Eur J Pediatr DOI 10.1007/s00431-011-1442-5 Received: 9 December 2010 / Accepted: 1 March 2011
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