Department of Pediatrics, University of Sulaimani, Sulaymaniyah, Kurdistan Region-Iraq.
Dr Jamal Pediatric Teaching Hospital, Sulaymaniyah, Kurdistan Region-Iraq.
Cell Mol Biol (Noisy-le-grand). 2022 Jan 2;67(4):24-32.
Balloon atrial septostomy (BAS) remains an essential palliative interventional procedure in neonates with transposition of great arteries (TGA) and restrictive inter-circulatory mixing (low saturation) that does not respond to prostaglandin E1 therapy for maintaining ductal patency. The short- and intermediate-term outcomes of BAS were evaluated in patients with TGA, and the association of C677T polymorphism in the MTHFR gene was considered on these patients at Solemani Center for Heart Diseases, Dr. Jamal Ahmad Rasheed Pediatric Teaching Hospital, and Shar Hospital in Sulaymaniyah city. For this purpose, a retrospective study was used to evaluate short- and intermediate-term outcomes of BAS in 65 consecutive neonates who have been diagnosed with TGA and restrictive inter-circulatory mixing using echocardiography in three leading hospitals in Sulaymaniyah city, during the study period from June 2011 until January 2020. Also, for genetic polymorphism assessments, in addition to 65 patients, 65 healthy children were included in the study. 2ml of intravenous blood was collected and genomic DNA was purified from peripheral blood using the Blood genomic DNA extraction kit (Life Science, USA). PCR-RFLP method was used to determine the genotype of the subjects. All 65 of the neonates diagnosed with TGA were included in this study; 61 of the cases underwent the Rashkind procedure at a median age of 15 days, and four of the neonates died before the process. Prostaglandin E1 infusion was implemented on five of the cases before the procedure, three of whom remained hypoxic. All procedures were performed successfully under the echocardiography guide, but in 26 cases, the process was conducted with the aid of fluoroscopy with an improvement of mean SPO2 (52.59% ±7.84 to 86.57% ±3.39). An excellent short-term outcome was seen in 85.2% of the cases. Forty-three of the cases underwent the operation at the median age of six months. At the median age of 32 months, 60.7% of the cases had a good outcome on the follow-up. The results also showed a significant difference between the two groups in genotypes and alleles (P<0.05). This result confirms the relationship between C667T polymorphism of the MTHFR gene and transposition of great arteries disease. BAS is an effective palliative procedure in neonates with dextro-transposition of the great arteries (d-TGA) and can be safely performed at the bedside using echocardiography. It has an excellent short-term outcome and has a relatively good intermediate-term effect, but this depends on the later performed correction operation.
球囊房间隔造口术（BAS）仍然是大动脉转位（TGA）和限制型循环混合（低饱和度）新生儿的重要姑息性介入治疗方法，如果前列腺素 E1 治疗不能维持动脉导管开放，则需要进行该治疗。本研究在索莱马尼中心心脏病学、贾马尔·艾哈迈德·拉希德儿科教学医院和苏莱曼尼亚沙医院评估了 TGA 患者的 BAS 短期和中期结果，并考虑了 MTHFR 基因 C677T 多态性对这些患者的影响。为此，我们在 2011 年 6 月至 2020 年 1 月期间，使用回顾性研究方法，在苏莱曼尼亚市的三家领先医院中，对 65 例经超声心动图诊断为 TGA 和限制型循环混合的连续新生儿进行了 BAS 短期和中期结果评估。此外，除了 65 例患者外，还纳入了 65 例健康儿童作为对照。采集 2ml 静脉血，使用外周血基因组 DNA 提取试剂盒（Life Science，USA）从外周血中提取基因组 DNA。采用 PCR-RFLP 方法确定研究对象的基因型。所有诊断为 TGA 的 65 例新生儿均纳入本研究；61 例患儿在中位年龄 15 天时接受了 Rashkind 手术，其中 4 例在手术前死亡。5 例患儿在术前接受了前列腺素 E1 输注，其中 3 例仍存在缺氧。所有操作均在超声心动图引导下成功完成，但在 26 例中，在透视协助下进行了操作，平均 SpO2 有所改善（52.59%±7.84 至 86.57%±3.39）。85.2%的病例短期结果良好。43 例患儿在中位年龄 6 个月时进行了手术。在中位年龄 32 个月时，60.7%的患儿在随访时预后良好。结果还显示，两组在基因型和等位基因上存在显著差异（P<0.05）。该结果证实了 MTHFR 基因 C667T 多态性与大动脉转位疾病之间的关系。BAS 是一种有效的姑息性治疗方法，适用于右旋大动脉转位（d-TGA）的新生儿，可以在床边使用超声心动图安全地进行。它具有极好的短期效果，并且具有相对较好的中期效果，但这取决于随后进行的矫正手术。
