Congenital diaphragmatic hernia (CDH) is a developmental defect in the diaphragm that occurs in approximately 1 in 3,300 live births (1). A defect in the diaphragm causes herniation of the abdominal organs into the chest and compression of the lungs, which results in respiratory insufficiency after birth and persistent pulmonary hypertension of the newborn (2). Esophageal atresia (EA) and tracheoesophageal fistula (TEF) are some of the most common congenital abnormalities of the gastrointestinal tract, affecting 1 in 3,000–4,500 live births (3). The co-occurrence of CDH and EA with TEF is very rare and carries a high fatality rate of 51.9%. The fatality rates of right and left CDH and EA with TEF were estimated to be 60% and 44.4%, respectively, while that of left CDH with EA was 80%. Surgery is the only method to correct these deformities. Cases of early postoperative survival have been reported since 1993. However, there is no unified method to treat these two deformities. We report a case of a premature infant with left CDH, EA, TEF and a right aortic arch.

A male infant weighing 2,350 g with an antenatal diagnosis of left CDH and right aortic arch since the 24-week gestation period was born by cesarean section at 35⁺² weeks of gestation. No abnormality was found in amniotic fluid low density gene chip at 21 weeks of gestation. The left CDH was revealed by systematic fetal ultrasound and targeted ultrasound at 24 weeks of gestation. The size of the right lung in the cross section was about 2.4 × 1.57 cm and the lung-to-head ratio (LHR) was about 1.64. Follow-up targeted fetal echocardiography and fetal chest MRI suggested right aortic arch. Fetal ultrasound at 26 weeks of gestation showed polyhydramnios (amniotic fluid: 8.4 cm, amniotic fluid index: 26.0 cm). Targeted ultrasound at 34 weeks of pregnancy showed that the lung-to-head ratio was 1.93.

The baby had mild respiratory distress at birth, with Apgar scores of 5 and 8 at 1 and 5 min, respectively. Immediately after birth, the infant was intubated and admitted to the neonatal intensive care unit (NICU). Attempts to pass a nasogastric tube (NGT) were unsuccessful, and EA was suspected. Chest radiography confirmed the presence of left CDH with multiple air-filled loops of the bowel in the thoracic cavity, which suggested the possibility of EA and TEF with a U-shaped NGT in the middle mediastinum. Emergency surgery was performed after the evaluation. The spleen, stomach, and most of the intestines were returned to the abdominal cavity via a transverse incision of the left upper abdomen, and a 3 × 3 cm defect of the left posterolateral diaphragm was observed(Defect B according to CDH Study Group Staging System). The diaphragmatic defect was intermittently sutured using a non-absorbable suture. It was difficult to maintain the infant's breathing under high-frequency ventilation (HFV); therefore, we did not attempt to perform a thoracotomy to ligate the fistula. A gastrostomy was performed to prevent gastrointestinal flatulence caused by mechanical ventilation. After the first operation, the infant suffered severe pulmonary hypertension and underwent treatment with high-frequency oscillatory ventilation, nitric oxide inhalation, and cetuximab. His blood oxygen saturation under HFV was normal. Subsequently, pulmonary hemorrhage occurred, and a hemodynamically significant patent ductus arteriosus (HsPDA) was considered. Ibuprofen was used for the closure of the PDA. After these treatments, the patient underwent thoracotomy via the left posterolateral incision on day of life (DOL) 16. Due to a large amount of pleural effusion in the pleural cavity and evident mediastinal edema, only the TEF was ligated and divided. Esophageal anastomosis was performed on DOL 39; the distance between the proximal and distal ends was 2.5 cm.

The patient was fed through a gastrostomy tube on DOL 20. No signs of esophageal stricture or gastroesophageal reflux were found on esophagography 10 days after esophageal anastomosis. Unfortunately, the patient developed intestinal failure-associated liver disease due to long-term parenteral nutrition. Biochemical indices, such as liver enzymes and serum conjugated bilirubin, returned to normal after treatment with fish oil monotherapy. The patient was on oral total enteral feeding when he was discharged from the hospital at the age of 3 months. On follow-up at the age of 6 months, the patient was able to raise his head steadily and turn his body over.

To the best of our knowledge, 36 cases of CDH, EA, and TEF have been reported to date. We included a total of 27 cases with detailed information (Table 1) in this literature review. There were 17 cases of left CDH, EA, and TEF; 5 cases of left CDH and EA; and 5 cases of right CDH, EA, and TEF. No cases of right CDH or EA have been reported to date. Most reported cases were accompanied by other malformations, the most common of which was a cardiovascular malformation (22.2%), such as a patent ductus arteriosus, atrial septal defect, interruption of the inferior vena cava, right aortic arch, or common arterial trunk. Other malformations included lung agenesis (18.5%), Meckel's diverticulum (14.8%), renal dysplasia (11.1%), trisomy 18 (7.4%), spinal deformities (7.4%), and facial deformities (3.7%). CDH, EA, and TEF are fatal deformities in children; however, surgery has been the key to saving their lives since 1970 (4).

For patients with a left or right CDH with EA and TEF, a one-stage surgery is possible when the patient's breathing is stable. In staged surgery, in addition to gastrostomy, early ligation and division of the TEF are also important for stabilizing the respiratory state of patients. In patients with left CDH with EA, some surgeons recommend staged surgery to repair the EA after correcting for pulmonary hypertension, while others use a chevron incision to correct both deformities in a one-stage surgery.