Background: Uhl's disease is a rare disorder characterized by aplasia of the right ventricular myocardium leading to its parchment-like appearance. The loss of right ventricular function causes massive dilation of the right heart with progressive right heart failure in severe cases.
Case report: A 70-year-old patient with progressive dyspnea and massive peripheral edema presented with an acute decompensation of chronic right heart failure. Previously, pulmonary arterial hypertension was suspected and therapy with sildenafil was initiated. Echocardiography and cardiac MRI (magnetic resonance imaging) showed marked hypoplasia of the right ventricular free wall and marked dilation of the right heart without pulmonary arterial hypertension. The diagnosis of Uhl's disease was confirmed by typical MRI morphology. A slow cardiac recompensation was achieved by medicinal treatment of heart insufficiency. Hence the patient remained stable for 9 months with medicinal therapy without signs of further decompensation.
Conclusion: Uhl's disease should be suspected in patients with massive right heart dilation without pulmonary hypertension even in the adult. The major diagnostic clue is hypoplasia of the right ventricular free wall, which can be demonstrated by echocardiography and cardiac MRI. There is no causal therapy for the disease. Besides medicinal therapy for heart failure, right ventricular cardiomyoplasty and, ultimately, transplantation might be undertaken successfully.