Transthyretin cardiac amyloidosis

Med Pharm Rep. 2021 Aug;94(Suppl No 1):S11-S14. doi: 10.15386/mpr-2219. Epub 2021 Aug 10.

Abstract

Transthyretin amyloid cardiomyopathy (ATTR-CM) may be an under recognized cause of heart failure (HF). TTR amyloidosis can be inherited, caused by variants in the TTR gene (ATTRv) or by deposition of wild-type TTR protein (ATTRwt), leading to high mortality if untreated. We report the case of a patient with hereditary TTR amyloidosis and mixed phenotype (both cardiac and neurological involvement). We highlight the importance of multimodal imaging in the evaluation of these patients, as early diagnosis and treatment might lead to better outcome.

Keywords: TTR amyloidosis; multimodality imaging; transthyretin.