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 organic disorders. However Epstein’s anomaly is a rare association of DS. We report a 2.5 months DS boy that referred to our hospital with tachypnea. In echocardiography the septal leaflet displaced downwardly toward the apex about 8.2 mm and displacement index was 27.3 mm/m2, Tricuspid regurgitation (TR) was moderate (VC=5.5mm) with 70 mmHg gradient also an ASD with bidirectional shunt and a membranous VSD were seen. catheterisation and angiography was done, pulmonary arterial pressure was subsystemic and a 2.5 mm size PDA was seen, in the levophase a medium size VSD was seen. The patient is under follow up with lanoxin, captopril and lasix now. As mentioned earlier Epstein’s anomaly is rare and it prevalence is about 0.5% of CHDs although 50% of patients with DS have CHD but its association with Epstein’s anomaly is very rare.