{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,8,27]],"date-time":"2025-08-27T14:10:04Z","timestamp":1756303804689,"version":"3.44.0"},"reference-count":19,"publisher":"BMJ","issue":"1","content-domain":{"domain":["bmj.com"],"crossmark-restriction":true},"short-container-title":["BMJ Case Rep"],"accepted":{"date-parts":[[2019,12,20]]},"published-print":{"date-parts":[[2020,1]]},"abstract":"<jats:p>Hereditary transthyretin amyloidosis is a rare progressive systemic disease. We describe a physically active 46-year-old man who presented with dyspnoea on exertion. An echocardiogram showed increased left ventricular wall thickness and diastolic dysfunction, but normal systolic function. The QRS voltage on ECG was normal. The patient was diagnosed with hypertrophic cardiomyopathy, and several years passed before establishment of the accurate diagnosis of hereditary transthyretin amyloidosis caused by the rare mutation ATTR Phe33Leu, previously described in only five case reports. Further investigation revealed neuropathy and nephropathy, and the patient developed severe heart failure. The patient is treated with tafamidis, has undergone heart transplantation and is currently planned for liver transplant. Hereditary transthyretin amyloidosis is likely underdiagnosed, especially in patients presenting with cardiomyopathy. A discrepancy between the left ventricular mass indicated by echocardiogram and that on ECG is an important indicator of amyloidosis, as is involvement of multiple organs.<\/jats:p>","DOI":"10.1136\/bcr-2019-232756","type":"journal-article","created":{"date-parts":[[2020,1,13]],"date-time":"2020-01-13T04:15:13Z","timestamp":1578888913000},"page":"e232756","update-policy":"https:\/\/doi.org\/10.1136\/crossmarkpolicy","source":"Crossref","is-referenced-by-count":3,"title":["Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation"],"prefix":"10.1136","volume":"13","author":[{"given":"Anna","family":"Bj\u00f6rkenheim","sequence":"first","affiliation":[{"name":"Department of Cardiology, Faculty of Medicine and Health, \u00d6rebro University, \u00d6rebro, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barna","family":"Szab\u00f3","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Faculty of Medicine and Health, \u00d6rebro University, \u00d6rebro, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"\u00c1ron J\u00f3zsef","family":"Sztaniszl\u00e1v","sequence":"additional","affiliation":[{"name":"Department of Cardiology, Faculty of Medicine and Health, \u00d6rebro University, \u00d6rebro, Sweden"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","published-online":{"date-parts":[[2020,1,12]]},"reference":[{"key":"2025082706544776000_13.1.e232756.1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(11)70246-0"},{"key":"2025082706544776000_13.1.e232756.2","doi-asserted-by":"crossref","DOI":"10.1186\/1750-1172-8-31","article-title":"Guideline of transthyretin-related hereditary amyloidosis for clinicians","volume":"8","author":"Ando","year":"2013","journal-title":"Orphanet J Rare Dis"},{"key":"2025082706544776000_13.1.e232756.3","doi-asserted-by":"publisher","DOI":"10.1038\/nrcardio.2010.67"},{"key":"2025082706544776000_13.1.e232756.4","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehv583"},{"key":"2025082706544776000_13.1.e232756.5","doi-asserted-by":"publisher","DOI":"10.1136\/hrt.2009.190405"},{"key":"2025082706544776000_13.1.e232756.6","doi-asserted-by":"publisher","DOI":"10.1093\/eurheartj\/ehu284"},{"key":"2025082706544776000_13.1.e232756.7","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.119.006075","article-title":"Expert consensus recommendations for the suspicion and diagnosis of transthyretin cardiac amyloidosis","volume":"12","author":"Maurer","year":"2019","journal-title":"Circ Heart Fail"},{"key":"2025082706544776000_13.1.e232756.8","doi-asserted-by":"publisher","DOI":"10.1007\/s00259-010-1642-7"},{"key":"2025082706544776000_13.1.e232756.9","doi-asserted-by":"crossref","first-page":"893","DOI":"10.1212\/WNL.41.6.893","article-title":"Two-Tiered DNA-based diagnosis of transthyretin amyloidosis reveals two novel point mutations","volume":"41","author":"Ii","year":"1991","journal-title":"Neurology"},{"key":"2025082706544776000_13.1.e232756.10","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/0925-4439(91)90033-6","article-title":"A second transthyretin mutation at position 33 (Leu\/Phe) associated with familial amyloidotic polyneuropathy","volume":"1097","author":"Harding","year":"1991","journal-title":"Biochim Biophys Acta"},{"key":"2025082706544776000_13.1.e232756.11","doi-asserted-by":"crossref","first-page":"249","DOI":"10.1002\/(SICI)1096-8652(199811)59:3<249::AID-AJH13>3.0.CO;2-B","article-title":"Familial amyloid with a transthyretin leucine 33 mutation presenting with ascites","volume":"59","author":"Myers","year":"1998","journal-title":"Am J Hematol"},{"key":"2025082706544776000_13.1.e232756.12","doi-asserted-by":"publisher","DOI":"10.1080\/13506120500221989"},{"key":"2025082706544776000_13.1.e232756.13","doi-asserted-by":"crossref","first-page":"575","DOI":"10.1016\/j.jfma.2012.07.026","article-title":"A case of familial amyloidotic polyneuropathy with a rare Phe33Leu mutation in the TTR gene","volume":"113","author":"Chen","year":"2014","journal-title":"J Formos Med Assoc"},{"key":"2025082706544776000_13.1.e232756.14","doi-asserted-by":"crossref","first-page":"245","DOI":"10.18071\/isz.69.0245","article-title":"[Transthyretin familial amyloid polyneuropathy - 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