Cardiac phenotype in hereditary transthyretin amyloidosis: correlations between fibril types and 99mTc-DPD uptake

Variant transthyretin amyloidosis is a systemic disease. In Sweden, the Val30Met variant is the most prevalent. Val30Met presents in two phenotypes: an early-onset form dominated by polyneuropathy and a late-onset form frequently accompanied by cardiomyopathy. These phenotypes are associated with two amyloid fibril types. Type A fibrils, contain both fragmented and full-length transthyretin, whereas type B fibrils contain only full-length transthyretin.