In the present publication,
we perform a specific bibliographical review emphasizing the terminology and classification of adult situs anomalies and the abdominal findings in cases of heterotaxy syndrome.
It will be completed clinically and imaging with representative cases of abdominal tomographic studies of our hospital.
Heterotaxy syndrome or "situs ambiguous" is a rare genetic disorder.It is characterized by several anomalies in the position of the organs and vessels regarding the midline,most of them associated to characteristic morphological alterations of each organ.
The term "situs solitus"should be applied (Fig. 1) when the position of the organs with respect to the midline is normal.
In these cases the heart,
stomach and Aorta are located on the left,
and the liver and vena cava on the right.
"Situs inversus" consists in theopposite...
Findings and procedure details
Following a few casesof heterotaxy syndrome with polysplenia in adults diagnosed in our hospital,
we have performed a bibliographic review of the evidence in order to identify the principal radiological findings of altered anatomy in situs anomalies and associated diseases.
LUNGS AND BRONCHI
Associated with the syndrome of heterotaxia with asplenia,
the literature describes a strong association with the presence of right isomerism.
This implies that the patient has trilobulated lungs with bilateral minor fissures and bronchi in epiarterial situation with a short course.
Heterotaxy is a rarely diagnosed syndrome in adulthood.
As a result of it has no single pathognomonic feature to make a correct diagnosis and management of this syndrome,
we emphasize the importance of knowing its spectrum of visceral and vessels abnormalities and genes involved to avoid confusion with other pathological processes.
To reach an early and accurate radiological diagnosis is crucial for appropriate planning of surgical and interventional procedures and to keep away from damaging important structures.
Dr.Francisco Barqueros Escuer
Department of Radiology,
Hospital Clínico Universitario Virgen de la Arrixaca.
El Palmar (Murcia; Spain).
A novel ZIC3 gene mutation identified in patients with heterotaxy and congenital heart disease.
2018 Aug 17;8(1):12386.
Prieto Martínez C,
Vila Costas JJ,
García Sanchotena JL,
Borda Celaya F.
Síndrome de heterotaxia (poliesplenia) en un adulto.
2007 May 1;49(3):211–4.
Abdominal Manifestations of Situs Anomalies in Adults | RadioGraphics [Internet].
[cited 2019 Jan 9].
Available from: https://pubs.rsna.org/doi/full/10.1148/rg.226025016
Situs Revisited: Imaging of the Heterotaxy Syndrome | RadioGraphics [Internet].