Koenig Zachary A, Verhoeven Alex, Rosen David, Petrone Ashley B
Medicine, West Virginia University School of Medicine, Morgantown, USA.
Pediatrics, West Virginia University School of Medicine, Morgantown, USA.
Cureus. 2020 Oct 27;12(10):e11205. doi: 10.7759/cureus.11205.
Heterotaxy syndrome is a varied spectrum of rearrangements of thoracic and abdominal organs that present many unique complications. Among all congenital deformities, heterotaxy syndrome is rare although this is likely an underestimate without routine imaging due to the benign nature of some defects. Numerous genes have been identified that play a role in its pathogenesis, and it has been hypothesized that heterotaxy syndrome is a consequence of both genetic and environmental impacts on the body axis. This case report also demonstrates the fundamental role of cardiac catheterization and imaging in further specifying the subtype of heterotaxy. Furthermore, it highlights the inconsistency of laterality with functional asplenia, visceral situs ambiguus, double-outlet right ventricle, and a left-sided inferior vena cava apart from other anomalies in a newborn male.
内脏异位综合征是一种胸腹部器官排列紊乱的疾病谱,会出现许多独特的并发症。在所有先天性畸形中,内脏异位综合征较为罕见,不过由于一些缺陷的良性性质,如果没有常规影像学检查,这一数字可能被低估。已确定许多基因在其发病机制中起作用,并且据推测内脏异位综合征是遗传和环境因素对身体轴线影响的结果。本病例报告还展示了心导管检查和影像学在进一步明确内脏异位亚型方面的重要作用。此外,它突出了一名新生儿男性除其他异常外,在功能性无脾、内脏位置不明确、右心室双出口和左侧下腔静脉方面的左右侧不一致情况。