Camilla Simonsen Lyng, Einar Gude, Anders Hodt, Eva Cecilie Knudsen
{"title":"First Norwegian case of hereditary ATTR amyloidosis with a novel transthyretin variant.","authors":"Camilla Simonsen Lyng, Einar Gude, Anders Hodt, Eva Cecilie Knudsen","doi":"10.1080/14017431.2023.2174269","DOIUrl":null,"url":null,"abstract":"<p><p>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 (<i>TTR) gene.</i> 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.</p>","PeriodicalId":21383,"journal":{"name":"Scandinavian Cardiovascular Journal","volume":null,"pages":null},"PeriodicalIF":1.2000,"publicationDate":"2023-12-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Scandinavian Cardiovascular Journal","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/14017431.2023.2174269","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"CARDIAC & CARDIOVASCULAR SYSTEMS","Score":null,"Total":0}
引用次数: 0
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.
期刊介绍：
The principal aim of Scandinavian Cardiovascular Journal is to promote cardiovascular research that crosses the borders between disciplines. The journal is a forum for the entire field of cardiovascular research, basic and clinical including:
• Cardiology - Interventional and non-invasive
• Cardiovascular epidemiology
• Cardiovascular anaesthesia and intensive care
• Cardiovascular surgery
• Cardiovascular radiology
• Clinical physiology
• Transplantation of thoracic organs
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