Uhl's anomaly is an uncommon malformation of the right ventricle, which is characterized by the absence of the myocardium in the right ventricular free wall, while the tricuspid and pulmonary valves are morphologically normal. The aim of this work was to present a clinical case of a patient with Uhl's anomaly, to describe the echocardiographic findings and to perform an anatomoechocardiographic correlation with a corresponding specimen. This is a case report of a 33 year old man with suspicion of atrial septal defect, who was in functional class II of the NYHA and presented signs of right ventricular failure. The echocardiogram showed dilation of the right cavities, the free wall of the right ventricle was thin and smooth, and the tricuspid and pulmonary valves were normal, which prompted the diagnosis of Uhl's anomaly. Also, an anatomoechocardiographic correlation was done with an equivalent specimen of the Embryology Department from the Instituto Nacional de Cardiologia Ignacio Chavez's collection.
Conclusions: Uhl's anomaly is an extremely rare entity. The clinical findings and echocardiography are the main tools for its diagnosis. The anatomoechocardiographic correlation was precise and allowed a better understanding of this anomaly."