1 | INTRODUCTION
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.