A new variant in the heterotaxy polysplenia syndrome

Heterotaxy is a low incidence genetic disorder of multifactorial inheritance characterized by various abnormalities in the position of organs and vessels relative to the midline of the body. It is most often associated with fatal congenital heart defects at birth. As a result, only a small percentage of patients survive into adulthood. The following clinical case presents a female adult patient with abdominal pain secondary to choledocholithiasis. During the diagnostic workup, she was diagnosed with intestinal malrotation complicated by portal vein thrombosis, which later developed into portal hypertension. In addition to several anomalies (agenesis of the inferior vena cava with direct communication of the suprahepatic veins to the right atrium, polysplenia and shortening of the pancreas), a possible variant of heterotaxy syndrome was diagnosed.