Uhl's anomaly: A case report

A case of Uhl's anomaly in a 12-month-old male infant is presented. His initial presentation was of generalized edema for a duration of 6 months. His physical examination revealed faint heart sounds, hepatomegaly with firm consistency and ascites. A teleheart film revealed cardiomegaly. Generalized low voltage was seen on etectrocardiogram which suggested pericardial effusion. A 2-dimensional echocardiography demonstrated moderate amount of pericardial effusion and markedly dilated right ventricle and atrium; particularly right ventricle, which was thin and performed poorly with irregular contraction. The provisional diagnosis was right ventricular dysplasia. Conventional treatment for congestive heart failure was administered. He developed septicemia, hypokalemia and expired 1 month after admission. The autopsy revealed parchment of the right ventricular free wall with almost a complete absence of the right ventricular myocardium that was replaced by fibrous tissue. The constellations of clinical manifestations, investigations and autopsy findings coincide with Uhl's anomaly, which is not compatible with life without considering a heart transplantation.