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Getting to the heart of the matter: cardiac involvement in transthyretin-related amyloidosis

Steven R. Zeldenrust, Leslie T. Cooper
DOI: http://dx.doi.org/10.1093/eurheartj/ehs238 483-485 First published online: 27 August 2012

This editorial refers to ‘Disease profile and differential diagnosis of hereditary transthyretin-related amyloidosis with exclusively cardiac phenotype: an Italian perspective’, by C. Rapezzi et al., on page 520

Transthyretin-related amyloidosis (ATTR) was originally called familial amyloidotic polyneuropathy (FAP) by Andrade based on the predominant features of a length-dependent axonal neuropathy seen in affected Portuguese patients.1 With positive identification of transthyretin (TTR) as the precursor protein, and a growing number of new forms of systemic amyloidosis identified, the name was subsequently changed to ATTR.2 Despite the name change, the disease itself continues to be regarded predominantly as a form of hereditary peripheral neuropathy. The phenotype of cardiac involvement, either as a solitary manifestation of the disease or in association with neuropathy, is probably underdiagnosed due to a lack of awareness of ATTR. As a result, patients who present with cardiac symptoms of ATTR may not gain access to current diagnostic tests or emerging therapies.

Factors that probably contribute to low disease recognition include the overall rarity of ATTR and the regional variation in incidence. For example, most of the data on the typical pattern of disease in ATTR …