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.
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Nyp, M., Drake, W. & Kilbride, H. Prenatal ductal thrombosis presenting as cyanotic heart lesion. J Perinatol 31, 685–686 (2011). https://doi.org/10.1038/jp.2011.25
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DOI: https://doi.org/10.1038/jp.2011.25