Prenatal ductal thrombosis presenting as cyanotic heart lesion

Section of Neonatalogy, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA.
Journal of perinatology: official journal of the California Perinatal Association (Impact Factor: 2.07). 10/2011; 31(10):685-6. DOI: 10.1038/jp.2011.25
Source: PubMed


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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