A case with Uhl's anomaly presenting with severe right heart failure

Uhl's anomaly was first reported by Uhl in 1952 and is characterized by congenital partial or complete absence of right ventricular myocardium. It is a very rare anomaly with unknown aetiology. Associations with other congenital heart diseases, familial occurrency, sudden death and arrhythmia with Uhl's anomaly have been reported. Pathologic findings vary with the patient's age and severity of the right ventricular disorder. In infancy, it may occur with severe right-sided heart failure as well as asymptomatic cardiomegaly. Despite its rarity, Uhl's anomaly may be considered in patients with right ventricular failure due to dilated cardiomyopathy of the right ventricle. We report the case of six-year-old boy presenting with striking ascites due to severe right heart failure of Uhl's anomaly.