Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study.
Congenitally Corrected Transposition of the Great Arteries: Fetal Diagnosis, Associations, and Postnatal Outcome: A Fetal Heart Society Research Collaborative Study.
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先天性纠正的大动脉转位：胎儿诊断、相关性和产后结局：胎儿心脏学会研究协作研究。
DOI：
10.1161/jaha.122.029706
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发表时间：
2023-06-06
影响因子：
5.4
通讯作者：
Srivastava S
中科院分区：
文献类型：
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作者：
Cohen J;Arya B;Caplan R;Donofrio MT;Ferdman D;Harrington JK;Ho DY;Hogan W;Hornberger LK;Jhaveri S;Killen SAS;Lindblade CL;Michelfelder E;Moon-Grady AJ;Patel S;Quezada E;Ronai C;Sanchez Mejia AA;Schidlow DN;Stiver C;Thakur V;Srivastava S
胎儿诊断先天性矫正型大动脉转位（ccTGA）的报道越来越多;然而，临床结局的预测因素仍有待探讨。我们进行了一项多中心、回顾性研究，以调查胎儿ccTGA的自然史、相关异常和结局。纳入了2004年1月至2020年7月在20个北美项目中诊断出ccTGA的胎儿。排除了被认为明确排除双心室修复的重度心室发育不全胎仔。我们纳入了205例诊断为ccTGA的胎儿，中位胎龄为23周（四分位距，21-27周）。在5.9%的测试中发现了遗传异常，6.3%的心外异常。161例（78.5%）诊断为相关心脏缺陷，23例（11.3%）诊断为房室传导阻滞。在连续的胎儿超声心动图上，39%的胎儿表现出功能或解剖结构的变化，最常见的是三尖瓣反流增加（6.7%）或肺动脉流出道阻塞（11.1%）。在194例随访胎儿中，26例终止妊娠，3例发生胎死（2例伴房室传导阻滞），165例活产。在158例有产后数据的患者中（中位随访时间为3.7年），10例（6.6%）在1年前死亡/移植。在单变量分析中，与1年内胎儿死亡或死亡/移植相关的胎儿因素包括≥轻度三尖瓣反流、肺动脉闭锁、主动脉阻塞、胎儿心律失常和连续胎儿超声心动图血流动力学恶化（定义为右心室功能恶化、三尖瓣反流或积液）。相关心脏病变和心律失常在胎儿ccTGA中很常见，功能变化通常发生在整个妊娠期。胎儿三尖瓣反流（≥轻度）、心律失常、肺动脉闭锁、主动脉阻塞和连续超声心动图血流动力学恶化与不良结局相关。这些发现可以告知产前咨询和围产期管理计划。
Fetal diagnosis of congenitally corrected transposition of the great arteries (ccTGA) has been increasingly reported; however, predictors of clinical outcomes remain underexplored. We undertook a multicenter, retrospective study to investigate natural history, associated anomalies, and outcomes of fetal ccTGA. Fetuses with ccTGA diagnosed from January 2004 to July 2020 within 20 North American programs were included. Fetuses with severe ventricular hypoplasia thought to definitively preclude biventricular repair were excluded. We included 205 fetuses diagnosed with ccTGA at a median gestational age of 23 (interquartile range, 21–27) weeks. Genetic abnormalities were found in 5.9% tested, with extracardiac anomalies in 6.3%. Associated cardiac defects were diagnosed in 161 (78.5%), with atrioventricular block in 23 (11.3%). On serial fetal echocardiogram, 39% demonstrated a functional or anatomic change, most commonly increased tricuspid regurgitation (6.7%) or pulmonary outflow obstruction (11.1%). Of 194 fetuses with follow‐up, 26 were terminated, 3 experienced fetal death (2 with atrioventricular block), and 165 were live‐born. Of 158 with postnatal data (median follow‐up 3.7 years), 10 (6.6%) had death/transplant before 1 year. On univariable analysis, fetal factors associated with fetal death or death/transplant by 1 year included ≥ mild tricuspid regurgitation, pulmonary atresia, aortic obstruction, fetal arrhythmia, and worsening hemodynamics on serial fetal echocardiogram (defined as worse right ventricular function, tricuspid regurgitation, or effusion). Associated cardiac lesions and arrhythmias are common in fetal ccTGA, and functional changes commonly occur through gestation. Worse outcomes are associated with fetal tricuspid regurgitation (≥mild), any arrhythmia, pulmonary atresia, aortic obstruction, and worsening hemodynamics on serial echocardiograms. These findings can inform prenatal counseling and perinatal management planning.