3 SIBLINGS OF FAMILIAL AMYLOID CARDIOMYOPATHY WITH ISOLEUCINE-50 TRANSTHYRETIN MUTATION

We herein describe three siblings with familial amyloid cardiomyopathy in a Japanese family, who demonstrated an Ile-50 mutation in the tran sthyretin gene. In their clinical course, the symptoms started at from 50 to 55 years of age, and two cases died within 5 years. However, on e case is still alive seven years after onset probably due to either t he implantation of a pacemaker for a complete atrio-ventricular block or the administration of dimethylsulphoxide. Based on our findings, so me differences were observed not only in the mutation of the transthyr etin gene but also in the clinical course between our cases and the pr eviously reported cases. (C) 1997 Elsevier Science Ireland Ltd.