{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:57:30Z","timestamp":1790704650271,"version":"4.1.0"},"reference-count":11,"publisher":"IMR Press","issue":"9","license":[{"start":{"date-parts":[[2026,9,22]],"date-time":"2026-09-22T00:00:00Z","timestamp":1790035200000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Br. J. Hosp. Med. (Lond)"],"abstract":"<jats:p>Aims\/Background: This case report aims to illustrate the critical importance of a standardized diagnostic approach and genotype-specific therapy in hereditary transthyretin amyloid cardiomyopathy (ATTR-CM). It highlights the clinical challenge of diagnosing ATTR-CM amidst complex comorbidities and addresses the evidence gap regarding the long-term efficacy of tafamidis for the rare and aggressive p.Val40Ile (protein-level substitution of valine to isoleucine at codon 40) mutation. Case Presentation: A 72-year-old East Asian man with multiple comorbidities presented with refractory heart failure. Key clinical clues included the classic \u201cred flag\u201d of electrocardiogram (ECG)-echocardiogram discordance (low voltage with ventricular hypertrophy). Genetic testing identified the pathogenic p.Val40Ile transthyretin (TTR) mutation. Results: The diagnosis was confirmed non-invasively via cardiac magnetic resonance (CMR) and technetium-99m pyrophosphate scintigraphy. Following the initiation of tafamidis, the patient\u2019s symptoms significantly improved. Over a two-year follow-up period, he sustained clinical stability with a marked reduction in heart failure-related hospitalizations. Conclusion: This report provides detailed case-based evidence supporting the long-term efficacy of tafamidis in stabilizing disease and improving prognosis for patients with ATTR-CM harboring the p.Val40Ile mutation. It underscores the value of timely diagnosis, genetic subtyping, and access to targeted therapy in altering the clinical course of this aggressive genotype.<\/jats:p>","DOI":"10.31083\/bjhm58285","type":"journal-article","created":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T16:59:52Z","timestamp":1790701192000},"source":"Crossref","is-referenced-by-count":0,"title":["Clinical Benefit of the Transthyretin Stabiliser Tafamidis in Hereditary Transthyretin Amyloid Cardiomyopathy: A Case Report"],"prefix":"10.31083","volume":"87","author":[{"given":"Xing","family":"Xiao","sequence":"first","affiliation":[{"name":"Department of General Practice, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430000 Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mengchen","family":"Yang","sequence":"additional","affiliation":[{"name":"Department of Geriatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430000 Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-3661-2370","authenticated-orcid":true,"given":"Ling","family":"Ding","sequence":"additional","affiliation":[{"name":"Department of General Practice, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, 430000 Wuhan, Hubei, China"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"16242","published-online":{"date-parts":[[2026,9,22]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","unstructured":"Fontana M, Aimo A, Emdin M, Porcari A, Solomon SD, Hawkins PN, et al. Transthyretin amyloid cardiomyopathy: from cause to novel treatments. European Heart Journal. 2026; 47: 54\u201363.","DOI":"10.1093\/eurheartj\/ehaf667"},{"key":"ref2","doi-asserted-by":"publisher","unstructured":"Movila DE, Motofelea AC, Cozma D, Albai O, Sima AC, Andor M, et al. Cardiac Amyloidosis: A Narrative Review of Diagnostic Advances and Emerging Therapies. Biomedicines. 2025; 13: 1230.","DOI":"10.3390\/biomedicines13051230"},{"key":"ref3","doi-asserted-by":"publisher","unstructured":"Elliott P, Drachman BM, Gottlieb SS, Hoffman JE, Hummel SL, Lenihan DJ, et al. Long-Term Survival With Tafamidis in Patients With Transthyretin Amyloid Cardiomyopathy. Circulation. Heart Failure. 2022; 15: e008193.","DOI":"10.1161\/CIRCHEARTFAILURE.120.008193"},{"key":"ref4","doi-asserted-by":"publisher","unstructured":"Maurer MS, Schwartz JH, Gundapaneni B, Elliott PM, Merlini G, Waddington-Cruz M, et al. Tafamidis Treatment for Patients with Transthyretin Amyloid Cardiomyopathy. The New England Journal of Medicine. 2018; 379: 1007\u20131016.","DOI":"10.1056\/NEJMoa1805689"},{"key":"ref5","doi-asserted-by":"publisher","unstructured":"Bauer R, Dikow N, Brauer A, Kreuter M, Buss S, Evers C, et al. The \u201cWagshurst study\u201d: p.Val40Ile transthyretin gene variant causes late-onset cardiomyopathy. Amyloid. 2014; 21: 267\u2013275.","DOI":"10.3109\/13506129.2014.967846"},{"key":"ref6","doi-asserted-by":"publisher","unstructured":"Gagnier JJ, Kienle G, Altman DG, Moher D, Sox H, Riley D, et al. The CARE Guidelines: Consensus-based Clinical Case Reporting Guideline Development. Global Advances in Health and Medicine. 2013; 2: 38\u201343.","DOI":"10.7453\/gahmj.2013.008"},{"key":"ref7","doi-asserted-by":"publisher","unstructured":"Briasoulis A, Bampatsias D, Papamichail A, Kuno T, Skoularigis J, Xanthopoulos A, et al. Invasive and Non-Invasive Diagnostic Pathways in the Diagnosis of Cardiac Amyloidosis. Journal of Cardiovascular Development and Disease. 2023; 10: 256.","DOI":"10.3390\/jcdd10060256"},{"key":"ref8","doi-asserted-by":"publisher","unstructured":"Damy T, Garcia-Pavia P, Hanna M, Judge DP, Merlini G, Gundapaneni B, et al. Efficacy and safety of tafamidis doses in the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and long-term extension study. European Journal of Heart Failure. 2021; 23: 277\u2013285.","DOI":"10.1002\/ejhf.2027"},{"key":"ref9","doi-asserted-by":"publisher","unstructured":"Scheel PJ, 3rd, Mukherjee M, Hays AG, Vaishnav J. Multimodality Imaging in the Evaluation and Prognostication of Cardiac Amyloidosis. Frontiers in Cardiovascular Medicine. 2022; 9: 787618.","DOI":"10.3389\/fcvm.2022.787618"},{"key":"ref10","doi-asserted-by":"publisher","unstructured":"Slivnick JA, Singulane C, Sun D, Eshun D, Narang A, Mazzone S, et al. Preservation of Circumferential and Radial Left Ventricular Function as a Mitigating Mechanism for Impaired Longitudinal Strain in Early Cardiac Amyloidosis. Journal of the American Society of Echocardiography. 2023; 36: 1290\u20131301.","DOI":"10.1016\/j.echo.2023.08.005"},{"key":"ref11","doi-asserted-by":"publisher","unstructured":"Lo Q, Haluska B, Chia EM, Lin MW, Richards D, Marwick T, et al. Alterations in regional myocardial deformation assessed by strain imaging in cardiac amyloidosis. Echocardiography. 2016; 33: 1844\u20131853.","DOI":"10.1111\/echo.13355"}],"container-title":["British Journal of Hospital Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.imrpress.com\/journal\/BJHM\/87\/9\/10.31083\/BJHM58285","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T17:00:02Z","timestamp":1790701202000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.imrpress.com\/journal\/BJHM\/87\/9\/10.31083\/BJHM58285"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,9,22]]},"references-count":11,"journal-issue":{"issue":"9","published-print":{"date-parts":[[2026]]}},"alternative-id":["S1759-7390(26)04777-0"],"URL":"https:\/\/doi.org\/10.31083\/bjhm58285","relation":{},"ISSN":["1750-8460","1759-7390"],"issn-type":[{"value":"1750-8460","type":"print"},{"value":"1759-7390","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,9,22]]},"article-number":"58285"}}