A case report of pulmonary atresia with intact ventricular septum: an extraordinary finding of subsystemic right ventricle.

Background: Massive tricuspid regurgitation (TR) is the most common feature of pulmonary atresia with intact ventricular septum (PA/IVS), and mild or absent TR is observed in severe right ventricular (RV) dysplasia or RV-to-coronary fistulous connections, resulting in non-biventricular (BV) outcomes postnatally. Case summary: We report a case of fetal severe pulmonary stenosis with IVS diagnosed at 26 weeks of gestation. The severity of RV hypoplasia did not worsen or reach indications for intrauterine intervention, while the jet velocity of TR decreased significantly during pregnancy. The fetus was definitely diagnosed with PA/IVS with mild RV dysplasia after birth. Unusually, the fetus did not experience severe TR and myocardial sinusoids, the TR jet velocity was maintained at 2.0 m/s, and the coronary artery was almost normal. The incapable RV cannot pump blood into pulmonary circulation after RV decompression from valvular perforation and balloon dilation. It may be an extraordinary finding of subsystemic RV. Conclusion: PA/IVS is a heterogeneous disease with various degrees of RV dysplasia. Mild or no baseline TR is a reliable indicator with non-BV outcomes for fetal PA/IVS, even with acceptable dysplasia RV structures.

Anaesthesia management of interventional cardiac catheterisation for pulmonary atresia with intact ventricular septum and critical pulmonary stenosis: a retrospective analysis.

OBJECTIVE: Pulmonary atresia with intact ventricular septum and critical pulmonary stenosis usually have to undergo treatment in the neonatal period. Compared to traditional surgical intervention, catheter-based cardiac interventions may achieve similar or superior outcomes for neonates with pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. However, there is limited literature on anaesthesia techniques, challenges, and risks associated with cardiac catheterisation in this population. METHODS: This article retrospectively analysed the clinical data of pulmonary atresia with intact ventricular septum and critical pulmonary stenosis neonates who were treated with interventional cardiac catheterisation in our hospital from January 2015 to October 2022. Clinical outcomes considered were haemodynamic or pulse oxygen saturation instability, vasoactive requirements, prolonged intubation (>24 h postoperatively), and cardiovascular adverse events. RESULTS: A total of 63 patients met the inclusion criteria. All patients survived the intervention. Among the patients with critical pulmonary stenosis, 40 successfully received percutaneous balloon pulmonary valvuloplasty, while three patients received ductal stenting due to moderate right ventricular dysplasia at the same time. For patients with pulmonary atresia with intact ventricular septum, 17 of the 23 patients successfully underwent percutaneous pulmonary valve perforation and percutaneous balloon pulmonary valvuloplasty. Of these, five patients underwent ductal stenting due to unstable pulmonary blood flow. Three patients only underwent ductal stenting. In addition, three patients received hybrid therapy. CONCLUSIONS: There are various clinical techniques and risk challenges in the interventional cardiac catheterisation of neonatal pulmonary atresia with intact ventricular septum and critical pulmonary stenosis. However, by mastering the physiological and pathophysiological characteristics of the disease, adequately preparing for the perioperative period, and predicting the procedure process and potential complications, anaesthesia and surgical risks can be effectively managed.

Considerations of single-lung ventilation in neonatal thoracoscopic surgery with cardiac arrest caused by bilateral pneumothorax: A case report.

BACKGROUND: Tension pneumothorax of the contralateral lung during single-lung ventilation (SLV) combined with artificial pneumothorax can cause cardiac arrest due to bilateral pneumothorax. If not rapidly diagnosed and managed, this condition can lead to sudden death. We describe the emergency handling procedures and rapid diagnostic methods for this critical emergency situation. CASE SUMMARY: We report a case of bilateral pneumothorax in a neonatal patient who underwent thoracoscopic esophageal atresia and tracheoesophageal fistula repair under the combined application of SLV and artificial pneumothorax. The patient suffered sudden cardiac arrest and received emergency treatment to revive her. The recognition of dangerous vital sign parameters, rapid evacuation of the artificial pneumothorax, and initiation of lateral position cardiopulmonary resuscitation while simultaneously removing the endotracheal tube to the main airway are critically important. Moreover, even though the sinus rhythm was restored, the patient's continued tachycardia, reduced pulse pressure, and depressed pulse oximeter waveform were worrisome. We should highly suspect the possibility of pneumothorax and use rapid diagnostic methods to make judgment calls. Sometimes thoracoscopy can be used for rapid examination; if the mediastinum is observed to be shifted to the right, it may indicate tension pneumothorax. This condition can be immediately relieved by needle thoracentesis, ultimately allowing the safe completion of the surgical procedure. CONCLUSION: Bilateral pneumothorax during SLV combined with artificial pneumothorax is rare but can occur at any time in neonatal thoracoscopic surgery. Therefore, anesthesiologists should consider this possibility, be alert, and address this rare but critical complication in a timely manner.

Identification of a novel heterozygous SPTB mutation by whole genome sequencing in a Chinese patient with hereditary spherocytosis and atrial septal defect: a case report.

BACKGROUND: Hereditary spherocytosis (HS) is a common inherited red blood cell membrane disorder characterized by an abnormal increase of spherocytes in peripheral blood. SPTB gene mutation is one of the most common causes of HS; however, few cases of HS resulting from SPTB mutation in the Chinese population have been reported so far. CASE PRESENTATION: A 3-year-old Chinese girl presented to Qingdao Women and Children's Hospital, Qingdao University, with atrial septal defect (ASD). Meanwhile, she was clinically diagnosed with HS. Whole genome sequencing (WGS) was performed for the proband and her parents for genetic molecular analysis. A novel SPTB mutation (c.1756delG) was detected by WGS and confirmed by Sanger sequencing in the proband. This mutation results in a frameshift with a premature termination codon in exon 12, leading to a nonsense mutation (p.Ala586Profs*7). Her parents had no similar symptoms, and blood routine and serum biochemical tests showed no significant abnormalities. The patient's mother did not know of any relatives with HS-like symptoms. Percutaneous transcatheter closure was successfully performed for treating the ASD. CONCLUSION: In this study, we identified a novel SPTB frameshift mutation in a Chinese girl with HS. This finding would expand the spectrum of SPTB mutations, provide a valuable insight into the genotyping of HS in the Chinese population, and contribute to the clinical management and genetic counseling in HS.