Heterotaxy syndrome

Discussion:

Findings are consistent with heterotaxy which is the term used to describe the range of condition in which there is failure of normal lateralization of organs. 

This baby girl is thought to have polysplenia syndrome because although multiple spleens were not seen on our patient's US, given the small size of the identified spleen it is suspected that this baby may have polysplenia with the other spleens not recognized at the time of scanning. This baby girl also had a transverse liver which is seen in this condition. 

The baby has not shown sign of any significant heart defects at this stage, however given that in polysplenia the associated congenital heart defects are milder and often do not present until later childhood she will be worked up further with an echo to assess for conditions such as endocardial cushoin defect and be assessed for conditions such as partial anomalous venous return and coarctation of the aorta which can be seen with polysplenia syndrome. 

She will also be assed for malrotation as these babies commonly have malrotation and in the absence of severe congenital heart defects are most often the earliest cause of morbidity and mortality if not previously identified.

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