Umbilical Vein Elastic Fiber Deficiency as an Emerging Risk Factor for Catastrophic Umbilical Cord Hemorrhage: A Case Report.

BACKGROUND: Umbilical cord hemorrhage (UCH) is a rare and fatal event involving the rupture of the umbilical vein. UCH is associated with mechanical reasons, such as cord entanglement, but new evidence suggests congenital structural weakness such as a lack of elastic fibers in the vein wall (umbilical vein dysplasia) as a predisposing factor, though it is not well understood clinically. This case report describes a term breech neonate who died from umbilical cord hemorrhage; autopsy revealed a marked deficiency of elastic fibers in the umbilical vein wall, suggesting a potential association with spontaneous umbilical vein rupture.

CASE REPORT: A 27-year-old woman (G2P0) was admitted at 37+2 weeks due to premature rupture of membranes (PROM). Ultrasound showed a breech fetus with a nuchal cord. After fetal bradycardia (90 bpm), an emergency cesarean section delivered a live female infant through III-degree meconium-stained amniotic fluid. The Apgar score was 10 at 1, 5 and 10 minutes. At 12 minutes, she developed cyanosis and dyspnea with an SpO2 of 80%. Endotracheal suctioning yielded 2 mL of meconium; however, heart sounds remained weak and spontaneous respiration was inadequate. Resuscitation failed, and she died on day 2. Autopsy revealed umbilical cord hemorrhage secondary to umbilical vein rupture, and histochemical staining demonstrated a significant deficiency or absence of elastic fibers in the umbilical vein wall.

CONCLUSIONS: This case suggests that congenital elastic fiber deficiency may predispose to spontaneous umbilical vein rupture and sudden neonatal death, even in the presence of initially reassuring Apgar scores. It highlights the potential value of routine elastin staining in perinatal autopsies and supports further research into the prevalence and genetic basis of this dysplasia.