Routhu Madhavilatha, Mohammad Imran Ali
Department of Radiology, MGM Hospital, Warangal, India.
Department of Pathology, MGM Hospital, Warangal, India.
Ultrasound. 2019 May;27(2):111-121. doi: 10.1177/1742271X19836259. Epub 2019 Mar 19.
Heterotaxy syndrome/ isomerism is characterized by an abnormal symmetry of the viscera that are normally dissimilar due to abnormal lateralization of thoracic and abdominal viscera and is frequently associated with complex cardiac anomalies. Isomerism may be of right or left.
This article describes the morphological characteristics of heterotaxy and suggests an approach in evaluating the spectrum of abnormalities associated with this syndrome. This study is based on 12 cases diagnosed on antenatal ultrasound as heterotaxy syndrome. Results of the examinations were re-evaluated and compared by fetal autopsy.
Based on the following echocardiographic criteria, a diagnosis of left isomerism was made if there was viscerocardiac heterotaxy associated with an interruption of inferior vena cava or with bilateral finger-like atrial appendages or if it was associated with heart block. If there was evidence of viscerocardiac heterotaxy with complex cardiac anomalies then it was diagnosed as right atrial isomerism or visceral heterotaxy syndrome. We diagnosed 6/12 as left isomerism and rest of the cases as right isomerism/visceral heterotaxy syndrome. In Autopsy we evaluated visceral situs and morphology of the lungs and the main bronchi, the state of the liver, spleen, bowel, and the precise anatomy of the heart and confirmed 4/12 as left isomerism 4/12 as right isomerism and two cases as visceral heterotaxy syndrome (VHS). Rest of the two cases were included in the study despite missing autopsy data, as the combination of abnormal situs with interrupted inferior vena cava, and cardiac malformation allowed a diagnosis of left isomerism with high probability.
In this study, we aimed to find common features of heterotaxy syndrome on prenatal ultrasound as well as on fetal autopsy. This syndrome should be accurately diagnosed in the prenatal period in order to allow appropriate counseling of parents.
内脏异位综合征/异构是指由于胸腹部脏器的异常侧化导致正常情况下不同的内脏出现异常对称，且常伴有复杂的心脏畸形。异构可为右位或左位。
本文描述了内脏异位的形态学特征，并提出了一种评估与该综合征相关异常谱的方法。本研究基于12例产前超声诊断为内脏异位综合征的病例。通过胎儿尸检对检查结果进行重新评估和比较。
根据以下超声心动图标准，如果存在内脏心脏异位并伴有下腔静脉中断或双侧指状心耳，或伴有心脏传导阻滞，则诊断为左异构。如果有内脏心脏异位并伴有复杂心脏畸形的证据，则诊断为右位异构或内脏异位综合征。我们将12例中的6例诊断为左异构，其余病例诊断为右异构/内脏异位综合征。在尸检中，我们评估了内脏位置、肺和主支气管的形态、肝脏、脾脏、肠道的状态以及心脏的精确解剖结构，确认12例中有4例为左异构，4例为右异构，2例为内脏异位综合征（VHS）。尽管缺少尸检数据，但其余两例仍纳入研究，因为异常位置合并下腔静脉中断和心脏畸形的组合使左异构的诊断具有很高的可能性。
在本研究中，我们旨在寻找产前超声以及胎儿尸检中内脏异位综合征的共同特征。应在产前准确诊断该综合征，以便为父母提供适当的咨询。
