Uhl’s anomaly: rare but does exist

Abstract

A 17-year-old boy presented with facial puffiness and swelling in the lower limbs for 6 months and one episode of syncope 15 days earlier. Transthoracic echocardiography showed a dilated right atrium and right ventricle with right ventricular systolic dysfunction. The free wall of the right ventricle was thinned out and devoid of myocardium and trabeculations. Cardiac magnetic resonance imaging showed an extremely dilated thin-walled right ventricle and absence of trabeculations, with no fat signal in the right ventricular wall, in contrast to that seen in arrhythmogenic ventricular dysplasia, which confirmed the diagnosis of Uhl’s anomaly.