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

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

Disclosure statement

No potential conflict of interest was reported by the author(s).

Acknowledgement

The authors thank dr. Martin P. Bogsrud for genetic counseling and dr. Melinda Raki for immunohistochemistry illustration.

Additional information

Funding

None