CT of Uhl's anomaly in an adult

Uhl's anomaly is an extremely rare condition of unknown cause characterized by complete or partial absence of the right ventricular myocardial layer, which is replaced by nonfunctional fibroelastic tissue. The disease causes progressive right-sided heart failure, increased right-sided cardiac pressure, massive peripheral edema, and ascites. Patients usually present in infancy and rarely survive to adulthood. The disease appears to be congenital in origin. Diagnosis was previously made at autopsy, but advances in imaging now permit diagnosis by echocardiography or cross-sectional imaging (computed tomography or magnetic resonance). We present a case of a 51-year-old patient with Uhl's anomaly who underwent placement of a ventricular assist device as a bridge to cardiac transplantation, and discuss CT findings.