Heterotaxy syndrome

Last revised by Liz Silverstone on 28 Dec 2022

Heterotaxy syndrome or situs ambiguus (also commonly, but etymologically less correctly, spelled situs ambiguous) is a disturbance in the usual left-right distribution of the thoracic and abdominal organs that does not entirely correspond to the complete mirror image (situs inversus).

It occurs from an early embryological developmental disturbance with most cases being sporadic. It is also classified under the group of cardiosplenic syndromes.

Specialists employ varying definitions of heterotaxy syndrome. In this article, the term heterotaxy syndrome is used synonymously with situs ambiguus 8. Some authors instead refer to heterotaxy syndrome as a specific subset of situs ambiguus, such as that with the presence of complex congenital heart defects like cardiac isomerism 7.

The true incidence is not known, but some sources have estimated it to be around 1 per 8,000-25,000 live births. Approximately 20-25% are associated with the immotile cilia syndrome (including Kartagener syndrome).

This is dependent on severity of the isomerism and presence of associated abnormalities. Cyanotic congenital heart disease is the main presentation in right isomerism. Left isomerism tends to present later in childhood or even in adulthood since it is less associated with complex congenital heart disease. Intestinal malrotation with midgut volvulus may also be a presenting feature.

Bronchial anatomy accurately reflects atrial situs. The bronchial anatomy on the left and right can be recognized on a well-penetrated radiograph and consists of two main bronchi that are anatomically different:

In situs ambiguus, there is duplication of either the hyparterial or eparterial bronchus. The associated atria are also duplicated and there are specific changes below the diaphragm (although not left-sided or right-sided duplication) 1.

Imaging features can be extremely complex.  

There is duplication of the left or right-sided intrathoracic contents with associated changes below the diaphragm. Classically, there is malposition of the liver, stomach, and spleen (which may be absent). Additionally, the vascular supply above and below the diaphragm may be altered significantly (including SVC duplication1.

Known as polysplenia syndrome:

Known as asplenia syndrome:

Assessment of the intrathoracic contents can be made with plain film, echocardiography, CT, and MRI as well as angiography. Below the diaphragm, the abdominal contents can be imaged with ultrasound, GI contrast studies, CT and MRI.

A minimal workup should include 1:

  • chest radiograph
  • echocardiogram: to assess for congenital heart disease
  • abdominal ultrasound: to assess intra-abdominal contents (especially spleen)
  • upper GI series: to rule out malrotation

Treatment is completely dependent on the malformations (that occur to varying degrees) and the impact that they have clinically.

Specific treatment of congenital heart disease can be seen in their separate articles.


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Cases and figures

  • Case 1
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  • Case 2: polysplenia
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  • Case 3: on ultrasound
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  • Case 4: right isomerism
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  • Case 5
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  • Case 6
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  • Case 7: left isomerism with polysplenia syndrome
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  • Case 8: situs ambiguus (left isomerism)
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