Berry syndrome is a rare syndrome characterized by a combination of congenital heart structural abnormalities, including aortopulmonary window (APW), aortic origin of the right pulmonary artery (AORPA), patent ductus arteriosus (PDA), interrupted aortic arch (IAA) or hypoplastic aortic arch (HAA) or coarctation of the aorta (CoA), and intact ventricular septum. Since its initial description by Berry et al. in 1982[1], only about 100 cases have been reported in the English literature to date[2].

Patients with Berry syndrome often present with severe pulmonary hypertension, and the right pulmonary artery dilates due to continuous left-to-right shunting, leading to potential airway compression symptoms[3]. On the other hand, lower limb perfusion in these patients relies on the ductus arteriosus and collateral circulation, making them prone to lower limb ischemic symptoms[4]. Most patients are diagnosed prenatally or in infancy[5], and may present with cyanosis, respiratory distress, and prominent cardiac murmurs. The majority of patients require immediate surgical intervention at birth.

Here, we report a case of a 6-year-old girl with Berry syndrome. She was diagnosed with congenital heart disease at birth but was not confirmed to have Berry syndrome until the age of 6 when she underwent surgical treatment.