Complex congenital heart disease with asplenia syndrome associated in a 6-year-old boy: a case report

Abstract Background Asplenia syndrome is a rare complex congenital malformation characterized by structural and malposition of the thoracic and abdominal organs, and severe cardiovascular malformations. This abnormal incidence is relatively low, clinically rare and easy to be misdiagnosed as multiple organ malformations. Case Presentation: We presented a case of the coexistence of multiple congenital anomalies in a 6-year-old boy who suffered growth retardation and severe cyanosis. The results of cardiac ultrasound suggested that the boy suffers from complex congenital heart disease. CT angiography was performed to further assess the macrovascular and cardiac anatomy. In addition to the congenital spleen hypoplasia absence and abnormal structure and position of the thoracic and abdominal organs, the imaging also showed that the great vessel was completely transposed, with complete atrioventricular common channel and multiple venous ectopic drainage. Furthermore, the results were confirmed after the surgery. Conclusions Knowledge of this rare combination will be helpful in the differential diagnosis of asplenia syndrome congenital heart disease and assist the surgeon in treatment planning. CT imaging with ECG gating technology provides a reliable basis for the definitive diagnosis and pre-operative evaluation of such patients, especially for pre-operative preparation.