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Uhl’s anomaly is a rare cardiac disease of unknown etiology characterized by a markedly distended right ventricle because of partial or complete absence of right ventricular myocardium, which consequently develops a parchment-like appearance. Patients usually present with symptoms in infancy and rarely survive to adulthood. We report the case of an 18-year-old patient with Uhl’s anomaly who was diagnosed in infancy and survived to adulthood without symptoms of heart failure. Angiocardiography at the age of 6-years showed a dilated right ventricle. Magnetic resonance imaging (MRI) at the age of 12-years showed an extremely dilated thin-walled right ventricle with almost complete absence of right ventricular myocardium. At the age of 15-years, his MRI images showed further dilatation of the right ventricle. Follow-up examinations revealed to manifestation of right heart failure, despite persistent right ventricular dilatation and impaired function. This case may be useful for understanding the natural history of Uhl’s anomaly.

A Long-term Follow-up Case of Uhl's Anomaly that was Diagnosed in Infancy