Department of Pediatric Cardiology, İstanbul University-Cerrahpaşa Cerrahpaşa Medical School, Istanbul, Turkey.
Department of Pediatric Cardiology, Kanuni Sultan Süleyman Training and Research Hospital, Istanbul, Turkey.
Arch Gynecol Obstet. 2024 Sep;310(3):1491-1497. doi: 10.1007/s00404-024-07509-y. Epub 2024 Apr 29.
Ebstein anomaly (EA) and tricuspid valve dysplasia (TVD) represent uncommon congenital malformations of the tricuspid valve. The purpose of this study is to report on current perinatal outcomes of EA/TVD in our center and to investigate clinical and fetal echocardiographic predictors of perinatal mortality.
We performed a retrospective study among fetuses diagnosed from January 2014 to December 2023. Clinical and echocardiographic data were obtained from hospital records of Research and Education Hospital. The primary outcome was perinatal mortality. Of 21 fetuses diagnosed, there were 1 lost to follow-up, 1 termination, and 7 demises. In the live-born cohort of 12 live-born patients, 2 died before discharge, yielding an overall perinatal mortality of 50%. The median gestational age at diagnosis was 23 for non-survivors and 24 weeks for survivors. Birth weight was lower in non-survivors (2430 g vs 2990 g). Tricuspid insufficiency severity varied insignificantly. Non-survivors exhibited higher rates of hydrops, functional atresia, and absent antegrade flow (p < 0.05). Two infants with severe tricuspid insufficiency and congenital abnormalities died postnatally. The limited dataset enables further analysis for a predictive model. Notably, all non-survivors displayed hydrops, functional atresia, and absent antegrade flow, hindering definitive determination of the most impactful parameter on survival estimation.
Perinatal mortality remains notably elevated in fetuses with EA/TVD. The individuals at the highest risk are those with antegrade flow loss and functional atresia of pulmonary valve, this high-risk subgroup could benefit from targeted interventions, such as novel prenatal therapies or a more comprehensive perinatal approach involving optimized timing of delivery and postnatal interventional strategies.
Ebstein 畸形（EA）和三尖瓣发育不良（TVD）是三尖瓣的罕见先天性畸形。本研究旨在报告我们中心 EA/TVD 的围产儿结局，并探讨预测围产儿死亡率的临床和胎儿超声心动图指标。
我们对 2014 年 1 月至 2023 年 12 月期间诊断的胎儿进行了回顾性研究。临床和超声心动图数据从研究和教育医院的病历中获得。主要结局是围产儿死亡率。在 21 例诊断为 EA/TVD 的胎儿中，有 1 例失访，1 例终止妊娠，7 例死亡。在 12 例活产儿中，2 例在出院前死亡，围产儿死亡率为 50%。非幸存者的中位诊断孕周为 23 周，幸存者为 24 周。非幸存者的出生体重较低（2430g 比 2990g）。三尖瓣反流严重程度无显著差异。非幸存者出现水肿、功能性闭锁和前向血流缺失的比例更高（p<0.05）。2 例患有严重三尖瓣反流和先天性异常的婴儿在出生后死亡。有限的数据支持进一步分析以建立预测模型。值得注意的是，所有非幸存者均存在水肿、功能性闭锁和前向血流缺失，这使得难以确定对生存估计最有影响的参数。
EA/TVD 胎儿的围产儿死亡率仍然显著升高。风险最高的是那些存在前向血流缺失和肺动脉瓣功能性闭锁的个体，这一高危亚组可能受益于新型产前治疗或更全面的围产儿方法，包括优化分娩时机和产后介入策略。
