Terry Jefferson, Tapas Mondal, Nowaczyk Malgorzata J M
Department of Pathology and Molecular Medicine, McMaster Children's Hospital, Hamilton, ON, L8N 3Z5, Canada.
Pediatr Dev Pathol. 2013 Mar-Apr;16(2):97-101. doi: 10.2350/12-10-1264-CR.1. Epub 2013 Jan 3.
ABSTRACT Aorto-left ventricular tunnel (ALVT) is a rare congenital heart anomaly of unclear pathogenesis causing left ventricular volume overload. Most descriptions are from surgical corrections in the neonatal and infantile period, and little is known about ALVT in utero. Here we describe a case of ALVT ending in intrauterine demise with fetal hydrops at 30 weeks gestational age. Prior echocardiography showed features suggesting the presence of an ALVT, and an ALVT circumventing the left coronary leaflet of the aortic valve was confirmed at autopsy. Marked cardiomegaly and dilatation were present along with diffuse myocardial infarction. Other potential causes of fetal hydrops were not found, and genetic analysis, including analysis for RAS pathway mutations, did not reveal any detectable abnormalities. The presentation as intrauterine demise suggests that the architecture of this ALVT compromises cardiac function to a greater degree than the more typical defects discovered in the neonatal period.
摘要 主动脉左心室隧道（ALVT）是一种罕见的先天性心脏异常，其发病机制不明，可导致左心室容量超负荷。大多数描述来自新生儿和婴儿期的手术矫正，而关于子宫内ALVT的情况知之甚少。在此，我们描述一例在孕30周时因胎儿水肿导致子宫内死亡的ALVT病例。先前的超声心动图显示有提示ALVT存在的特征，尸检证实存在一条绕过主动脉瓣左冠状瓣叶的ALVT。存在明显的心脏肥大和扩张以及弥漫性心肌梗死。未发现胎儿水肿的其他潜在原因，包括对RAS途径突变的分析在内的基因分析未发现任何可检测到的异常。以子宫内死亡为表现提示，这种ALVT的结构对心脏功能的损害程度比在新生儿期发现的更典型缺陷更大。
