Prenatal ductal thrombosis presenting as cyanotic heart lesion

J Perinatol. 2011 Oct;31(10):685-6. doi: 10.1038/jp.2011.25.

Abstract

We present a case of a late-preterm infant admitted for suspected cyanotic heart disease who was found to have a thrombosed ductus arteriosus. Maternal history was significant for heterozygosity for Factor V Leiden, treated with enoxaparin during her pregnancy, and congenital hearing loss. The neonate did not have a Factor V Leiden mutation detected, but was found to have a heterozygous mutation within the MFTHR gene. He was treated with anticoagulation, with improving hemodynamics measured by echocardiogram. This case presents a rare disease, which is potentially fatal if diagnosis is delayed.

Publication types

  • Case Reports

MeSH terms

  • Anticoagulants / therapeutic use
  • Diagnosis, Differential
  • Ductus Arteriosus*
  • Factor V / genetics
  • Female
  • Heart Defects, Congenital / diagnosis
  • Heterozygote
  • Humans
  • Infant, Newborn
  • Infant, Premature
  • Infant, Premature, Diseases / diagnosis*
  • Infant, Premature, Diseases / genetics
  • Male
  • Pregnancy
  • Pregnancy Complications / drug therapy
  • Pregnancy Complications / genetics
  • Thrombosis / congenital
  • Thrombosis / diagnosis*
  • Thrombosis / drug therapy
  • Thrombosis / genetics

Substances

  • Anticoagulants
  • factor V Leiden
  • Factor V