Department of Paediatric Cardiology, Birmingham Children's Hospital, Birmingham, UK.
Department of Paediatric Cardiac Surgery, Birmingham Children's Hospital, Birmingham, UK.
Pediatr Cardiol. 2024 Jun;45(5):1089-1099. doi: 10.1007/s00246-024-03468-y. Epub 2024 Mar 21.
Congenitally corrected transposition of the great arteries (ccTGA) is a rare malformation with diverse morphology. We assessed features of fetuses with ccTGA and evaluated neonatal and pediatric outcomes. This was a retrospective review of fetuses with ccTGA at Birmingham Women's and Children's Hospital born from 2005 to 2019. Of thirty-six fetuses identified, six had unavailable prenatal data, one was postnatally diagnosed with isomerism and 29 fetuses were evaluated. ccTGA without associated cardiac lesions was found in 28% (8/29), ccTGA with significant VSD in 31% (9/29), ccTGA with pulmonary obstruction in 24% (7/29) and ccTGA with complex anomalies in 17% (5/29). Tricuspid regurgitation (TR) was observed in 17% (5/29) and heart block (HB) in 10% (3/29) prenatally. Six, that is 21% underwent genetic testing of which one was abnormal. Five extra-cardiac anomalies were reported prenatally and postnatally. Pregnancy was discontinued in five, of which two had moderate TR. There were thirty-one liveborn. Coarctation of the aorta was found in five postnatally but not suspected prenatally. In one, pulmonary stenosis was underestimated; otherwise, prenatal morphology was confirmed. Cardiac interventions were performed in 77% (24/31) liveborn with 39% (12/31) undergoing neonatal intervention. Overall, 6/31 liveborn died including all three with prenatal heart block and one with TR. Estimated survival for all liveborn at 1, 5 and 10 years was 87% (95% CI 76-100%), 83% (95% CI 72-98%) and 80% (95% CI 66-96%) respectively. Accurate prenatal diagnosis of ccTGA is critical for counseling. Early outcomes are favorable with 77% of liveborn undergoing surgery. Fetuses with prenatal diagnosis of complex associated abnormalities, HB and TR appear to do less well.
先天性矫正型大动脉转位(ccTGA)是一种罕见的畸形,具有多种形态。我们评估了患有 ccTGA 的胎儿的特征,并评估了新生儿和儿科的结局。这是对 2005 年至 2019 年在伯明翰妇女和儿童医院出生的患有 ccTGA 的胎儿进行的回顾性研究。在确定的 36 例胎儿中,有 6 例产前数据不可用,1 例产后诊断为同型合子,29 例胎儿接受了评估。28%(8/29)的患者为 ccTGA 无相关心脏病变,31%(9/29)为 ccTGA 伴显著室间隔缺损,24%(7/29)为 ccTGA 伴肺血管阻塞,17%(5/29)为 ccTGA 伴复杂畸形。17%(5/29)的胎儿在产前发现三尖瓣反流(TR),10%(3/29)的胎儿产前发现心脏传导阻滞(HB)。6 例(21%)进行了基因检测,其中 1 例异常。5 例胎儿在产前发现了心脏外畸形,5 例在产后发现了心脏外畸形。5 例(21%)终止妊娠,其中 2 例有中度 TR。31 例存活。5 例在产后发现主动脉缩窄,但产前未怀疑。1 例肺动脉瓣狭窄被低估;否则,产前形态学得到了证实。31 例活产中有 24 例行心脏介入治疗,其中 31%(12/31)在新生儿期进行干预。总体而言,31 例活产中有 6 例死亡,包括所有 3 例产前 HB 和 1 例 TR。所有活产的 1 年、5 年和 10 年生存率分别为 87%(95%CI 76-100%)、83%(95%CI 72-98%)和 80%(95%CI 66-96%)。准确的产前诊断对咨询至关重要。77%的活产儿接受了手术,早期结果良好。产前诊断为复杂相关异常、HB 和 TR 的胎儿预后似乎较差。