Heterotaxy syndrome, analysis of 13 cases and review of the literature

INTRODUCTION: Heterotaxy syndrome (Ivemark syndrome, or asplenia-polysplenia syndrome) is a heterogeneous group of disease with disturbed body symmetry and malposition of internal organs. Heterotaxy syndrome is caused by the disturbance of the left/right axis in the early embryonic period. AIM OF THE STUDY: The most frequency of heterotaxy syndrome's concomitant anomalies during a five year period in own fetopathology material. MATERIALS AND METHODS: Data of fetopathologic examination of 13 fetuses suffering from prenatally diagnosed heterotaxy syndrome. RESULTS: Situs ambiguus was detected in 9 cases out of 13. In the remaining 4 cases situs inversus totalis was diagnosed. The most frequent and important associated malformation included congenital heart disease was AV channel (10/13) and great vessel anomaly (10/13). CONCLUSION: In cases with prenatally detected complex cardiac anomalies (especially AV channel cases) heterotaxy anomaly must be taken into consideration, with main consequences in prenatal counselling.