A case of AORPA in an adult presenting as secondary polycythemia

Abstract

BackgroundPolycythemia refers to a condition of an abnormal increase in the red blood cell (RBC) mass. In men with a hematocrit > 60% or women with a hematocrit > 55%, there is 99% likelihood that the RBC mass is elevated. WHO uses a hemoglobin concentration > 16.5 g/dl in men or 16.0 g/dl in women to define an elevated RBC mass, in its criteria for the diagnosis of polycythemia vera. Congenital cardiac anomalies presenting as polycythemia are very rare in adults.Case presentationIn this case report, the patient presented with non-specific complaint and had an incidental finding of secondary polycythemia, ultimately diagnosed as secondary to AORPA. Our patient, a 43-year-old male, presented to our emergency with focal onset seizures without impairment of consciousness involving left upper and lower limbs. On routine investigations, the patient was found to have grade III clubbing and hemoglobin of 19.8 g/dl with elevated Erythropoietin levels. Further workup of secondary polycythemia revealed anomalous origin of the right pulmonary artery (AORPA) from the ascending aorta with tortuous patent ductus arteriosus (PDA) and pulmonary hypertension. Secondary polycythemia, in our patient, was due to right to left shunt causing Eisenmenger phenomenon, following pulmonary hypertension, making it one of the rarest presentation in adults.ConclusionIn the evaluation of secondary polycythemia, possibility of underlying asymptomatic cardiopulmonary shunt must be considered, though rare.