Ivemark Syndrome: A Complex Combination of Asplenia, Cardiovascular Defect, and Heterotaxy

Himani Kundoo, Niharika Dhiman

Abstract

The documented incidence of heterotaxy is 1 in 10,000 live births. Heterotaxy is characterized by an abnormal arrangement of thoracoabdominal organs across the left–right axis of the body, invariably associated with left or right atrial isomerism. Cardiac surgeries in such patients are palliative, because even with the surgery, achieving normal anatomy is not possible. Hence, the mortality rate remains high, especially in cases of right atrial isomerism.

Here we present a case in which an early morphology scan at 14 weeks of pregnancy was suggestive of discrepant positions of the heart and the stomach and right atrial isomerism. The diagnosis of heterotaxy with asplenia was confirmed postnatally using echocardiography and ultrasonography.