Extensive thrombus formation in the right ventricle due to a rare combination of arrhythmogenic right ventricular cardiomyopathy and heterozygous prothrombin gene mutation G20210 A

Arrhythmogenic right ventricular cardiomyopathy is a rare heart muscle dise ase characterized by right and often left ventricular myocardial atrophy an d fibrofatty replacement. Heart failure, arrhythmias and sudden death are c haracteristic complications. We observed a female in whom arrhythmogenic ri ght ventricular cardiomyopathy was diagnosed due to presyncopes and dyspnea on exertion. A left ventricular thrombus was found echocardiographically, which disappeared with oral anticoagulation. Subsequently, however, extensi ve thrombus formation in the dilated akinetic right ventricle occurred whic h was resistant to combined treatment with heparin and oral anticoagulation . Thrombophilia screening showed a mutant prothrombin 20210A allele wh ich is an inherited coagulopathy associated with increased plasma levels of pro thrombin and increased risks of mainly venous thrombosis. The patient devel oped end-stage biventricular heart failure and underwent heart transplantat ion within 3 months after thrombus formation in the right ventricle was dia gnosed. In the explanted heart, the thrombus in the right ventricle was imp ressively large and calcified. In patients with unusual thrombus formation in the heart, coagulopathy may be associated and should be excluded, Copyri ght (C) 2000 S. Karger AG, Basel.