Uhl's disease, a rare disease with an uncommon presentation

Abstract Uhl's anomaly is a rare disease secondary to the selective but uncontrolled apoptosis of right ventricular myocytes during the perinatal period, following complete cardiac development. This explains the absence of the right ventricular myocardium and the direct apposition of endocardium to epicardium without a myocardial layer in between, resulting in right ventricular failure. This paper describes a case of Uhl's disease with an uncommon presentation. A 28-year-old man was admitted with dyspnea and cyanosis. Transthoracic echocardiography showed severe dilation of the right chambers, impaired right ventricular systolic function and a large ostium secundum atrial septal defect. Cardiac catheterization revealed pulmonary hypertension, with increased pulmonary capillary wedge pressure (mean 19 mmHg); pulmonary blood flow:systemic blood flow was 0.88:1. At this point, the authors felt that atrial septal defect as the primary diagnosis could not explain the clinical features or hemodynamic data. Primary right ventricular disease was the most likely hypothesis and cardiac magnetic resonance imaging was performed, revealing an extremely thin-walled right ventricle, with almost complete absence of the right ventricular free wall myocardium, which is compatible with Uhl's disease.