Down syndrome Associated with Epstein’s Anomaly and Pulmonary Hypertension in a 2.5 Months Infant: a Case Report Study

In children with Down syndrome (DS) there is higher chance for concomitant congenital heart defects and organicdisorders. However Epstein’s anomaly is a rare association of DS. We report a 2.5 months DS boy that referred toour hospital with tachypnea. In echocardiography the septal leaflet displaced downwardly toward the apex about 8.2mm and displacement index was 27.3 mm/m2, Tricuspid regurgitation (TR) was moderate (VC=5.5mm) with 70mmHg gradient also an ASD with bidirectional shunt and a membranous VSD were seen. catheterisation andangiography was done, pulmonary arterial pressure was subsystemic and a 2.5 mm size PDA was seen, in thelevophase a medium size VSD was seen. The patient is under follow up with lanoxin, captopril and lasix now. Asmentioned earlier Epstein’s anomaly is rare and it prevalence is about 0.5% of CHDs although 50% of patients withDS have CHD but its association with Epstein’s anomaly is very rare.

Keywords:

Down syndrome , Epstein anomaly , Pulmonary Hypertension , Congenital Heart Defect , Tricuspid regurgitation