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.

Post-natal diagnosis and catheter-based management of premature fetal ductal closure presenting as unilateral pulmonary artery thrombosis and right ventricular failure

“…Newborns with ductal thrombosis have been reported to present with initial clinical stability followed by the onset of respiratory distress, need for increased ventilatory support, and progressive signs of right ventricular failure. [2][3][4] Risk factors for in utero thrombus development in this case include maternal diabetes and familial thrombophilia. 5 Prior reports have detailed extension of fetal ductal thrombus into the pulmonary arteries, but to our knowledge this is the first reported case of extension and embolisation leading to obstructive lesions in both the pulmonary and systemic circulations.…”

Ductus Arteriosus Aneurysm and Pulmonary Artery Thromboses in a Protein S-Deficient Newborn

“…There have been eight cases of newborn-onset DAA complicated with pulmonary artery thromboses, including the present patient (►Table 1). [9][10][11][12][13] One prenatally diagnosed case resulted in stillbirth. 14 All eight diagnosed cases after birth survived without recurrence or complications.…”

Ductus Arteriosus Aneurysm Thrombosis with Mass Effect Causing Pulmonary Hypertension in the First Week of Life

“…1,2,4 Echocardiogram is the standard imaging modality for diagnosis and surveillance, 1 although cardiac catheterization or computed tomography angiogram may clarify the diagnosis. 6 Thrombosis of a ductus arteriosus aneurysm is uncommon, with thrombogenesis likely related to turbulent flow or endothelial injury within the narrowed pulmonary ductus segment. 7 The major complications are thromboembolisms or mass effect, if the ductus is nonpatent.…”