title: Prenatal ductal thrombosis presenting as cyanotic heart lesion.
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.
authors.affiliation: Section of Neonatalogy, Children's Mercy Hospital and Clinics, Kansas City, MO 64108, USA. mfnyp@cmh.edu
authors.forename: M F
authors.initials: MF
authors.lastname: Nyp
authors.forename: W
authors.initials: W
authors.lastname: Drake
authors.forename: H
authors.initials: H
authors.lastname: Kilbride
mesh_terms: D000925:Anticoagulants / Q000627:therapeutic use; D003937:Diagnosis, Differential; D004373:Ductus Arteriosus; D005165:Factor V / Q000235:genetics; D005260:Female; D006330:Heart Defects, Congenital / Q000175:diagnosis; D006579:Heterozygote; D006801:Humans; D007231:Infant, Newborn; D007234:Infant, Premature; D007235:Infant, Premature, Diseases / Q000175:diagnosis* / Q000235:genetics; D008297:Male; D011247:Pregnancy; D011248:Pregnancy Complications / Q000188:drug therapy / Q000235:genetics; D013927:Thrombosis / Q000151:congenital / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics
chemical_list: D000925:Anticoagulants; C095381:factor V Leiden; D005165:Factor V