LAUSR

Heterotaxy syndrome is a sporadic genetic condition with a prevalence of 1:10 000. 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. If any step of embryonic visceral organ arrangement is impaired, abnormal organ position and heterotaxy syndrome may ensue. Findings include structural cardiac defects, lung lobe abnormalities, abnormal spleen development, intestinal malrotation or midline liver position. Heterotaxy syndrome should be differentiated from partial malrotations or situs inversus, where there is complete inversion of thoraco-abdominal organs. 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. The pain occurred nocturnally and was aggravated by spicy foods and movement. Panadeine forte provided symptom relief. She denied changes to bowel habit, constitutional symptoms and had no significant family history. Past medical history comprised a hysterectomy 8 years prior. On examination, she was vitally stable with mild left paraumbilical tenderness without any palpable masses or guarding. Blood tests revealed a mild anaemia and slightly elevated inflammatory markers. Given her non-specific symptoms she underwent a gastroscopy, colonoscopy and an abdominal computed tomography (CT) scan. NC’s gastroscopy and colonoscopy were unremarkable bar some mild gastritis. Gastroscopy was conducted with the patient in the left lateral decubitus position. Conventional upper gastrointestinal endoscopic techniques and movements were difficult to utilize, secondary to mirrored position of relevant viscera. Slight clockwise rotation and upwards deflection (conventionally an anticlockwise rotation and upwards deflection) of the endoscope tip was required to advance from the oesophagus, gastro-oesophageal junction and then into the stomach. This was likely due to the rightward slant of the oesophagus to the right-sided stomach (Fig. 1). Furthermore, passage from the duodenal bulb to the descending duodenum was difficult requiring manipulation of the scope tip including counterclockwise rotation (conventionally a clockwise rotation) and upwards deflection to advance. Jand U-turn manoeuvres to fully appreciate the greater curvature, cardia and fundus needed to be conducted in a mirrored manner using the unique fold arrangement of the greater and lesser curvatures as guidance landmarks. Colonoscopy proceeded without issue. Salient findings from her abdominal CT scan comprised an equivocal small fat containing umbilical hernia, right-sided stomach (Fig. 1), right-sided spleen situated postero-inferior to the liver (Fig. 2), a midline liver (Fig. 3), a small spleneculus (Fig. 2) and left-sided inferior vena cava (Figs 1,3). NC was managed with proton-pump inhibitors and had ongoing follow-up to evaluate adverse complications from her anatomical findings. Based on aforementioned investigations, a diagnosis of gastritis with an underlying congenital heterotaxy syndrome was made. Heterotaxy syndrome arises from failure of intra-abdominal and intra-thoracic structures to rotate appropriately during embryologic development. This may occur due to a series of mutations in genes regulating development of normal left–right axis determination. In children, this may correlate with a poor prognosis due to congenital heart disease. However, some case reports suggest that these cardiac anomalies bear minimal symptomatic or medical consequence,