Sara Coacci, Erin L J Alston, Takato Yamasaki, Christina Ronai, Stephen P Sanders, Chrystalle Katte Carreon
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引用次数: 0
摘要
埃布斯坦畸形(EA)是一种罕见的先天性心脏缺陷,其特点是三尖瓣(TV)和右心室心肌发育异常。本研究记录了两例引人注目的胎儿 EA 病例,其特征是水肿和心脏肥大,导致胎儿宫内死亡或新生儿早期死亡。这些临床结果与形态异常有关,包括严重的三尖瓣反流、无保护的 TV 孔、肺动脉闭锁和右心室心肌扁平。这项研究强调,这些不良解剖特征可能导致胎儿 EA 的不良临床结局。虽然产前超声及时发现这些特征对于提供准确的预后分层和指导治疗决策至关重要,但胎儿检查可能是在一系列右心异常中鉴别 EA 的必要手段。
The Connection Between Anatomical Substrate and Clinical Severity in Fetal Ebstein Anomaly.
Ebstein anomaly (EA) is a rare congenital heart defect characterized by abnormal development of the tricuspid valve (TV) and right ventricular myocardium. This study documents 2 dramatic cases of fetal EA characterized by hydrops and cardiomegaly, leading to intrauterine or early neonatal death. These clinical outcomes were associated with morphological abnormalities including severe tricuspid regurgitation, unguarded TV orifice, pulmonary atresia, and flattened right ventricular myocardium. This study highlights that these adverse anatomical features may result in unfavorable clinical outcomes in fetal EA. While timely identification of such features by prenatal ultrasound is crucial for providing accurate prognostic stratification and guiding treatment decisions, fetopsy may be necessary to discern EA among the spectrum of right-heart anomalies.
期刊介绍:
The Journal covers the spectrum of disorders of early development (including embryology, placentology, and teratology), gestational and perinatal diseases, and all diseases of childhood. Studies may be in any field of experimental, anatomic, or clinical pathology, including molecular pathology. Case reports are published only if they provide new insights into disease mechanisms or new information.