Uhl anomaly is a very rare condition characterized by ­complete or partial absence of the right ventricular myocardium, which is replaced by fibroelastic tissue [1].

The true incidence of Uhl anomaly is unknown, but less than 100 confirmed cases have been described in the literature [2]. The cause is thought to be a high apoptotic activity, which begins during the perinatal period or early in infancy, leading to destruction of the right ventricular wall [2, 3]. Histologic examination reveals partial or total absence of the myocardium of the parietal wall of the right ventricle and direct apposition of the opposing endocardial and epicardial surfaces [4, 5]. This leads to thinning of the right ventricular free wall. Uhl anomaly usually presents in neonates or infants as right-sided heart failure. Patients rarely survive to adulthood. No effective treatment other than heart transplant has been shown to improve survival.

Computed tomography (CT) findings include an extremely thin-walled right ventricle with complete or partial absence of the right ventricular free-wall myocardium and a paucity of trabeculations (Figs. 8.1 and 8.2) [6, 7]. The tricuspid valve, interventricular septum, and left ventricular myocardium are normal.