Pathological diagnosis of transposition of the great arteries as a contributor to neonatal mortality

大动脉转位病理诊断是导致新生儿死亡的因素之一

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Abstract

BACKGROUND: Transposition of the great arteries (TGA) is a rare cyanotic congenital heart defect, classified into complete TGA and corrected TGA. Late presentations are common in the majority of complete TGA patients alongside ventricular septal defect (VSD) or atrial septal defect (ASD). Complete TGA without accompanying cardiac malformations exhibits low morbidity and high mortality rates. CASE PRESENTATION: A 30-year-old woman, primigravida presented with a negative general and obstetric history. The patient was admitted at 38 weeks and 6 days of gestation due to persistent lower abdominal pain, accompanied by minimal vaginal bleeding lasted for 20 h. The color ultrasound revealed that the single viable fetus was positioned cephalically. A caesarean section of the lower uterine segment at the firm request of the pregnant woman was performed on the second day following admission. The delivery of a live male infant weighing 4300 g involved immediate airway clearance. The neonatal Apgar score recorded at the first minute post-birth was 8, reflecting a deduction of one point for respiration and skin color. During airway clearance, the infant experienced respiratory distress and bradycardia, necessitating immediate administration of tracheal intubation and high-frequency ventilator-assisted respiration. En route to the higher-level care facility, the infant’s condition deteriorated, presenting with facial cyanosis, decreased blood pressure, and transcutaneous oxygen saturation in the lower extremities declines to 60%. Resuscitative maneuvers were ineffective, resulting in the declaration of clinical death at 3 a.m. the following morning. The placenta and umbilical cord appeared normal by clinicopathological examination.  CONCLUSIONS: This report outlines key neonatal autopsy steps for TGA to improve cardiac change identification, emphasizing planned delivery in specialized centers and immediate postnatal management for improved outcomes.

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