First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant

Camilla Simonsen Lyng; Einar Gude; Anders Hodt; Eva Cecilie Knudsen

doi:10.1080/14017431.2023.2174269

First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant

Scand Cardiovasc J. 2023 Dec;57(1):2174269. doi: 10.1080/14017431.2023.2174269.

Authors

Camilla Simonsen Lyng¹, Einar Gude², Anders Hodt³, Eva Cecilie Knudsen¹

Affiliations

¹ Department of Cardiology, Oslo University Hospital, Ullevål, Oslo, Norway.
² Department of Cardiology, Oslo University Hospital, Rikshospitalet, Oslo, Norway.
³ Department of Nuclear Medicine, Oslo University Hospital, Ullevål, Oslo, Norway.

PMID: 36734834
DOI: 10.1080/14017431.2023.2174269

Abstract

An earlier healthy 64-year-old man with previous surgery for bilateral carpal tunnel syndrome (CTS) in his 50s, presented with dyspnoea on exertion. Cardiac amyloidosis was suspected due to "red flag" signs and symptoms. Further investigations with scintigraphy and genetic testing confirmed the diagnosis of hereditary ATTR variant (ATTRv) amyloidosis. This is the first case report of ATTRv amyloidosis in a patient of Norwegian origin and is caused by the mutation E54A (p.E74A) in the transthyretin (TTR) gene. This mutation is previously not reported in international databases. Transthyretin amyloid cardiomyopathy (ATTR-CM) is an underdiagnosed disease with a poor prognosis. Early recognition remains essential to afford the best treatment efficacy.

Keywords: Transthyretin amyloid cardiomyopathy (ATTR-CM); hereditary cardiac amyloidosis ATTR variant (ATTRv); non-hereditary wild-type TTR (ATTRwt); restrictive cardiomyopathy.

Publication types

Case Reports

MeSH terms

Amyloid Neuropathies, Familial* / diagnosis
Amyloid Neuropathies, Familial* / genetics
Amyloid Neuropathies, Familial* / therapy
Cardiomyopathies* / diagnostic imaging
Cardiomyopathies* / genetics
Humans
Male
Middle Aged
Mutation
Prealbumin / genetics
Treatment Outcome

Substances

Prealbumin