Abstract
Congenital absence of gallbladder and atrial septal defect (ASD) are clinically rare congenital organ malformations, and the simultaneous occurrence of the two is even more rare. The present study reported a case of gallbladder agenesis combined with congenital ASD. A 38-year-old male patient presented with a 3-year history of recurring upper right abdominal pain. The pain had no evident cause and was accompanied by dyspepsia and gasteremphraxis with indigestion. Several color Doppler ultrasonography scans revealed cholecystitis and gallbladder stones. A physical examination revealed cardiac murmur. A color Doppler ultrasonography of the heart was indicative of congenital heart disease. A corrective surgery for ASD was performed. Subsequently, a mini-incision cholecystectomy was performed as explorative surgery. A magnetic resonance cholangiopancreatography scan of the abdomen was performed in order to confirm the diagnosis of gallbladder disorder and cystic duct hypoplasia. A final definite diagnosis of gallbladder agenesis was confirmed. In conclusion, atrophy and gallbladder full of stones are frequently misdiagnosed, and establishing a definitive preoperative diagnosis is difficult. Awareness of this congenital malformation may assist physicians in distinguishing cases with unclear manifestation and avoiding unnecessary surgical interventions.