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

Orv Hetil. 2002 Feb 10;143(6):299-301.
[Article in Hungarian]

Abstract

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.

Publication types

  • Review

MeSH terms

  • Animals
  • Counseling
  • Disease Models, Animal
  • Heart Defects, Congenital / diagnostic imaging
  • Humans
  • Retrospective Studies
  • Situs Inversus / diagnostic imaging*
  • Situs Inversus / pathology
  • Ultrasonography, Prenatal*