Left Isomerism Sonographic Findings and Post Mortal Autopsy in a Female Foetus

Background: Left isomerism is a complex malformation syndrome. Important diagnostic pointers like viscera cardiac heterotaxy, complex cardiac anomalies, heart block and interruption of the inferior vena cava provide the prenatal diagnosis. However, although essential for counseling about prognosis, the knowledge about the whole spectrum of associated anomalies in cases of left isomerism is very rare. Case Presentation: We report a case of a 26-year-old primigravid women presenting at 17+3 weeks of gestation with foetal left isomerism. Following termination of the pregnancy a detailed teratological examination according to the guidelines of the sequential segmental approach was performed, which confirmed the prenatal sonographic findings. Moreover, additional distinct malformations of the cardiovascular, the pulmonal and the gastrointestinal tract were revealed. The main malformation features were: uniatrial-univentricular connection between the left isomeric atrium and a double-outlet right ventricle, interruption of the inferior vena cava combined with juxtaposition of its subhepatic portion and the abdominal aorta, polysplenia, and duodenojejunal malposition with subsequent malrotation of the malfixed bowel. Conclusion: We demonstrate the importance of an interdisciplinary cooperation of highly skilled sonographer and pathoanatomical experts in teratology. An accurate prenatal diagnosis of left isomerism is feasible. However, the whole dimension of this complex malformation syndrome is usually prenatal not visible. Detailed post mortal autopsy should be recommended to enhance the prenatal diagnosis further with respect to adequate counseling of the parents.