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- Title
Incidental abdominal heterotaxy syndrome.
- Authors
Lovell, Janaka; Sivakumar, Jonathan; Wijeratne, Shiran
- Abstract
Heterotaxy syndrome is a sporadic genetic condition with a prevalence of 1:10 000.[1] It is characterized by an abnormal arrangement of thoracic or abdominal viscera and can occur in isolation or as a feature of other genetic conditions.[1] If any step of embryonic visceral organ arrangement is impaired, abnormal organ position and heterotaxy syndrome may ensue.[2] Findings include structural cardiac defects, lung lobe abnormalities, abnormal spleen development, intestinal malrotation or midline liver position.[1] Heterotaxy syndrome should be differentiated from partial malrotations or situs inversus, where there is complete inversion of thoraco-abdominal organs.[3] NC is a 53-year-old female referred by her general practitioner to a general surgery outpatient clinic for an opinion on long-standing, intermittent left-sided para-umbilical abdominal pain, described as burning in nature. Given her non-specific symptoms she underwent a gastroscopy, colonoscopy and an abdominal computed tomography (CT) scan. With respect to the current case, images from the CT scan indicate that it may be reasonable to expect that the altered position of stomach, liver and spleen may shift the position of the upper gastrointestinal tract thus making for a challenging gastroscopy.
- Subjects
DYSKINESIAS; SYNDROMES; CYANOSIS; GASTROINTESTINAL system; SITUS inversus; VENA cava inferior
- Publication
ANZ Journal of Surgery, 2020, Vol 90, Issue 5, p911
- ISSN
1445-1433
- Publication type
Article
- DOI
10.1111/ans.15406