Three 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 transthyretin gene. In their clinical course, the symptoms started at from 50 to 55 years of age, and two cases died within 5 years. However, one case is still alive seven years after onset probably due to either the implantation of a pacemaker for a complete atrio-ventricular block or the administration of dimethylsulphoxide. Based on our findings, some differences were observed not only in the mutation of the transthyretin gene but also in the clinical course between our cases and the previously reported cases.