https://m2.mtmt.hu/ eng 2026-05-31 03:01 JournalArticle 31208568 APPROVED true 0 false 2026-01-13T12:43:02.755+0000 2024-01-05T12:09:22.202+0000 2020-03-06T13:33:12.626+0000 true 10069294 Kériné Tornyi Katalin /api/admin/10069294 Admin true 2024-01-05T12:09:22.614+0000 2024-01-05T12:09:22.614+0000 false false true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle true 10000059 Article true 24 24 /api/publicationtype/24 PublicationType 1 true 24 JournalArticle /api/subtype/10000059 Szakcikk SubType 101 true 10000059 true 1 /api/category/1 Category true 1 Björkenheim, Anna Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation true true /api/journal/10016301 REVIEWED true false 10016301 false 10016301 true 1757-790X Journal FOREIGN 13 1 e232756 e232756 2020 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. true 2020 true true true false true false NONE 2026-01-13 false 0 0 0 0 0 0 0 0 0 0 0 0 1 1 Q4 false false false false 2020-03-05T13:33:34.822+0000 6 28 0 3 0 false Language 10002 /api/language/10002 Angol English true 2 true PersonAuthorship 90824145 /api/authorship/90824145 1 0.0 true false false Björkenheim Anna true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 90824146 /api/authorship/90824146 2 0.0 false false false Szabó Barna true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PersonAuthorship 90824147 /api/authorship/90824147 3 0.0 false true false Sztaniszláv Áron József true false false AuthorshipType 1 /api/authorshiptype/1 0 true 0 true false true PublicationIdentifier 16689190 /api/publicationidentifier/16689190 PlainSource 6 /api/publicationsource/6 PublicationSourceType 10001 /api/publicationsourcetype/10001 true true true DOI DOI https://doi.org/@@@ true true 6 true IDENTICAL 10.1136/bcr-2019-232756 https://doi.org/10.1136/bcr-2019-232756 false true PublicationIdentifier 20174063 /api/publicationidentifier/20174063 PlainSource 1 /api/publicationsource/1 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true WoS WoS https://www.webofscience.com/wos/woscc/full-record/@@@ true true 1 true IDENTICAL 000661528300081 https://www.webofscience.com/wos/woscc/full-record/000661528300081 true true PublicationIdentifier 16689191 /api/publicationidentifier/16689191 PlainSource 3 /api/publicationsource/3 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true Scopus Scopus http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-@@@ true true 3 true IDENTICAL 85077785943 http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85077785943 false true PublicationIdentifier 16689189 /api/publicationidentifier/16689189 PlainSource 17 /api/publicationsource/17 PublicationSourceType 10003 /api/publicationsourcetype/10003 false true true PubMed PubMed http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=@@@&dopt=Abstract true true 17 true IDENTICAL 31932463 http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31932463&dopt=Abstract false true Keyword 14018 /api/keyword/14018 true 14018 true Keyword 1975185 /api/keyword/1975185 true true Keyword 1975186 /api/keyword/1975186 true true SjrRating 10995935 /api/sjrrating/10995935 1828 1.0 journal RatingType 10002 /api/ratingtype/10002 sjr true true ClassificationExternal 2701 /api/classificationexternal/2701 true 2701 true Q4 DIRECT true true /api/publication/31208568 <div class="JournalArticle Publication long-list"> <div class="authors"> <img title="Idézőközlemény" style="float: left" src="/frontend/resources/grid/publication-citation-icon.png"> <div class="autype autype0"> <span class="author-name" >Björkenheim Anna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Szabó Barna </span> ;&nbsp;&nbsp;&nbsp; <span class="author-name" >Sztaniszláv Áron József </span> </div> </div> <div class="title"><a href="/gui2/?mode=browse&params=publication;31208568" target="_blank">Hereditary transthyretin amyloidosis caused by the rare Phe33Leu mutation</a></div> <div> <span class="journal-title">BMJ CASE REPORTS</span> <span class="journal-issn">( <a target="_blank" href="https://portal.issn.org/resource/ISSN/1757-790X">1757-790X</a>)</span>: <span class="journal-volume">13</span> <span class="journal-issue">1</span> <span class="page"> Paper e232756. </span> <span class="year">(2020)</span> </div> <div class="pub-footer"> <span class="language" xmlns="http://www.w3.org/1999/html">Language: English | </span> <span class="identifiers"> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="10.1136/bcr-2019-232756" target="_blank" href="https://doi.org/10.1136/bcr-2019-232756"> DOI </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="000661528300081" target="_blank" href="https://www.webofscience.com/wos/woscc/full-record/000661528300081"> WoS </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="85077785943" target="_blank" href="http://www.scopus.com/record/display.url?origin=inward&eid=2-s2.0-85077785943"> Scopus </a> </span> <span class="id identifier oa_none" title="none"> <a style="color:blue" title="31932463" target="_blank" href="http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=31932463&dopt=Abstract"> PubMed </a> </span> </span> <div class="publication-citation"> <a target="_blank" href="/api/publication?cond=citations.related;eq;31208568&sort=publishedYear,desc&sort=title"> Number of cited publications: 1 </a> </div> <div class="mtid"><span class="long-pub-mtid">Publication: 31208568</span> | <span class="status-data status-APPROVED"> Published </span> Citing | <span class="type-subtype">Journal Article ( Article ) </span> | <span class="pub-category">Scientific</span> | <span class="publication-sourceOfData">kézi felvitel</span> </div> <div class="lastModified">Last Modified: 2024.01.05. 13:09 András Balázs (MTMT Központ, admin) </div> </div></div>