{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,28]],"date-time":"2025-08-28T00:03:06Z","timestamp":1756339386854,"version":"3.44.0"},"reference-count":8,"publisher":"BMJ","issue":"7","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2025,7,2]]},"published-print":{"date-parts":[[2025,7]]},"abstract":"<jats:p>Transthyretin amyloidosis (ATTR) is an underdiagnosed multisystem disease. More than 140 known mutations are pathologic, and organ tropism can vary significantly based on the causative mutation. An elderly man with neuropathy and congestive heart failure was found to have left ventricular hypertrophy on echocardiogram. Subsequent endomyocardial biopsy demonstrated transthyretin amyloid deposition. On referral to our centre, genetic testing was performed, demonstrating a missense mutation, c.229G&gt;A, that results in the amino acid substitution p.Gly77Arg. This mutation had only been reported in one other case of amyloidosis internationally. Cascade genetic testing ensued, which resulted in multiple family members having the same mutation with varying stages of disease activity. This case highlights the importance of genetic testing for all individuals diagnosed with ATTR regardless of age and the variable organ tropism of the disease.<\/jats:p>","DOI":"10.1136\/bcr-2025-264907","type":"journal-article","created":{"date-parts":[[2025,7,25]],"date-time":"2025-07-25T09:25:15Z","timestamp":1753435515000},"page":"e264907","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":0,"title":["Hereditary transthyretin amyloidosis caused by a rare mutation"],"prefix":"10.1136","volume":"18","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-5000-4494","authenticated-orcid":false,"given":"Jake","family":"Goldstein","sequence":"first","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Leah","family":"Stinson","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Konstantinos","family":"Sideris","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jill","family":"Waldron","sequence":"additional","affiliation":[{"name":"Division of Cardiovascular Medicine, Department of Internal Medicine, The University of Utah School of Medicine, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ryan","family":"Mooney","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kelsey","family":"Barrell","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amandeep","family":"Godara","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Spencer","family":"Carter","sequence":"additional","affiliation":[{"name":"Internal Medicine, University of Utah Health, Salt Lake City, Utah, USA"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2025,7,25]]},"reference":[{"key":"2025082700504256000_18.7.e264907.1","doi-asserted-by":"publisher","DOI":"10.1001\/jama.2024.0442"},{"key":"2025082700504256000_18.7.e264907.2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jacc.2022.11.022"},{"key":"2025082700504256000_18.7.e264907.3","doi-asserted-by":"publisher","DOI":"10.14797\/mdcvj.1066"},{"key":"2025082700504256000_18.7.e264907.4","unstructured":"Sekijima Y . Hereditary transthyretin amyloidosis. In: Genereviews. Seattle: University of Washington, 2021."},{"key":"2025082700504256000_18.7.e264907.5","doi-asserted-by":"crossref","first-page":"208","DOI":"10.3109\/13506120903421587","article-title":"Report of five rare or previously unknown amyloidogenic transthyretin mutations disclosed in Sweden","volume":"16","author":"Suhr","year":"2009","journal-title":"Amyloid"},{"key":"2025082700504256000_18.7.e264907.6","first-page":"488","article-title":"ATTR Amyloidosis: Current and Emerging Management Strategies","volume":"3","author":"Griffin","year":"2021","journal-title":"JACC: CardioOncology"},{"key":"2025082700504256000_18.7.e264907.7","unstructured":"National Institutes of Health . MAGNITUDE: a phase 3 study of NTLA-2001 in participants with transthyretin amyloidosis with cardiomyopathy (ATTR-CM). 2024. Available: https:\/\/clinicaltrials.gov\/study\/NCT06128629"},{"key":"2025082700504256000_18.7.e264907.8","doi-asserted-by":"crossref","first-page":"6319","DOI":"10.2147\/DDDT.S96893","article-title":"Green tea extract as a treatment for patients with wild-type transthyretin amyloidosis: an observational study","volume":"9","author":"aus dem Siepen","year":"2015","journal-title":"Drug Des Devel Ther"}],"container-title":["BMJ Case Reports"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/bcr-2025-264907","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T07:50:52Z","timestamp":1756281052000},"score":1,"resource":{"primary":{"URL":"https:\/\/casereports.bmj.com\/lookup\/doi\/10.1136\/bcr-2025-264907"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,7]]},"references-count":8,"journal-issue":{"issue":"7","published-online":{"date-parts":[[2025,7,25]]},"published-print":{"date-parts":[[2025,7]]}},"alternative-id":["10.1136\/bcr-2025-264907"],"URL":"https:\/\/doi.org\/10.1136\/bcr-2025-264907","relation":{},"ISSN":["1757-790X"],"issn-type":[{"type":"electronic","value":"1757-790X"}],"subject":[],"published":{"date-parts":[[2025,7]]}}}