{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,30]],"date-time":"2026-08-30T20:27:42Z","timestamp":1788121662494,"version":"build-2803163510"},"reference-count":25,"publisher":"Oxford University Press (OUP)","issue":"2","license":[{"start":{"date-parts":[[2025,12,5]],"date-time":"2025-12-05T00:00:00Z","timestamp":1764892800000},"content-version":"vor","delay-in-days":677,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"},{"start":{"date-parts":[[2024,1,28]],"date-time":"2024-01-28T00:00:00Z","timestamp":1706400000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/CRLF\/20\/23004"],"award-info":[{"award-number":["FS\/CRLF\/20\/23004"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/18\/21\/33447"],"award-info":[{"award-number":["FS\/18\/21\/33447"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/CRLF\/20\/23004"],"award-info":[{"award-number":["FS\/CRLF\/20\/23004"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100000274","name":"British Heart Foundation","doi-asserted-by":"publisher","award":["FS\/18\/21\/33447"],"award-info":[{"award-number":["FS\/18\/21\/33447"]}],"id":[{"id":"10.13039\/501100000274","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2024,2,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Aims<\/jats:title>\n                    <jats:p>Transthyretin amyloid cardiomyopathy (ATTR-CM) is an increasingly recognized cause of heart failure. A total of 3\u20134% of individuals of African descent carry a TTR gene mutation encoding the p.(V142I) variant, a powerful risk factor for development of variant ATTR-CM (ATTRv-CM); this equates to 1.6 million carriers in the United States. We undertook deep phenotyping of p.(V142I)-ATTRv-CM and comparison with wild-type ATTR-CM (ATTRwt-CM).<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods and results<\/jats:title>\n                    <jats:p>A retrospective study of 413 patients with p.(V142I) ATTRv-CM who attended the UK National Amyloidosis Centre (NAC) was conducted. Patients underwent evaluation at time of diagnosis, including clinical, echocardiography, and biomarker analysis; a subgroup had cardiac magnetic resonance (CMR) imaging. A total of 413 patients with ATTRwt-CM, matched for independent predictors of prognosis (age, NAC Stage, decade of first presentation), were used as a comparator group. At time of diagnosis, patients with ATTRv-CM had significant functional impairment by New York Heart Association classification (NHYA class \u2265 III; 38%) and 6-min walk test distance (median 276\u2009m). Median 5-year survival in ATTRv-CM patients was 31\u2009versus 59\u2009months in matched patients with ATTRwt-CM (p\u2009&amp;lt;\u20090.001). Patients with ATTRv-CM had significant impairment of functional parameters by echocardiography including biventricular impairment, high burden of regurgitant valvular disease and low cardiac output. Multivariable analysis revealed the prognostic importance of right ventricular dysfunction. CMR and histological analysis revealed myocyte atrophy and widespread myocardial infiltration in ATTRv-CM.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>p.(V142I)-ATTRv-CM has an aggressive phenotype characterized by myocyte loss and widespread myocardial infiltration which may account for frequent biventricular failure and poor prognosis in this ATTR-CM genotypic subgroup.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/ejhf.3088","type":"journal-article","created":{"date-parts":[[2023,11,13]],"date-time":"2023-11-13T04:10:25Z","timestamp":1699848625000},"page":"383-393","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":21,"title":["Deep Phenotyping of p.(V142I)-Associated Variant Transthyretin Amyloid Cardiomyopathy: Distinct from Wild-Type Transthyretin Amyloidosis?"],"prefix":"10.1093","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-4766-3293","authenticated-orcid":false,"given":"Yousuf","family":"Razvi","sequence":"first","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Adam","family":"Ioannou","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rishi K.","family":"Patel","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liza","family":"Chacko","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nina","family":"Karia","sequence":"additional","affiliation":[{"name":"Royal Free Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mattia","family":"Riefolo","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aldostefano","family":"Porcari","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]},{"name":"Center for Diagnosis and Treatment of Cardiomyopathies, Cardiovascular Department, Azienda Sanitaria Universitaria Giuliano-Isontina (ASUGI), University of Trieste , Trieste ,","place":["Italy"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Muhammad Umaid","family":"Rauf","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neasa","family":"Starr","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sashiananthan","family":"Ganesananthan","sequence":"additional","affiliation":[{"name":"Imperial College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Iona","family":"Blakeney","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nandita","family":"Kaza","sequence":"additional","affiliation":[{"name":"Imperial College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Stefano","family":"Filisetti","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Roos Eline","family":"Bolhuis","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dorota","family":"Rowczenio","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Janet","family":"Gilbertson","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"David","family":"Hutt","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shameem","family":"Mahmood","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Helen J.","family":"Lachmann","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ashutosh D.","family":"Wechalekar","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tushar","family":"Kotecha","sequence":"additional","affiliation":[{"name":"Royal Free Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel S.","family":"Knight","sequence":"additional","affiliation":[{"name":"Royal Free Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John G.","family":"Coghlan","sequence":"additional","affiliation":[{"name":"Royal Free Hospital , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aviva","family":"Petrie","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carol J.","family":"Whelan","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lucia","family":"Venneri","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ana","family":"Martinez-Naharro","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Phillip","family":"Hawkins","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marianna","family":"Fontana","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Julian D.","family":"Gillmore","sequence":"additional","affiliation":[{"name":"National Amyloidosis Centre, Division of Medicine, University College London , London ,","place":["UK"]}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"286","published-online":{"date-parts":[[2024,1,28]]},"reference":[{"key":"2026010913043895500_ejhf3088-bib-0001","doi-asserted-by":"crossref","first-page":"3517","DOI":"10.1093\/cvr\/cvac119","article-title":"Transthyretin cardiac amyloidosis","volume":"118","author":"Porcari","year":"2023","journal-title":"Cardiovasc Res"},{"key":"2026010913043895500_ejhf3088-bib-0002","doi-asserted-by":"crossref","first-page":"16","DOI":"10.1161\/CIRCULATIONAHA.118.038169","article-title":"Natural history, quality of life, and outcome in cardiac transthyretin amyloidosis","volume":"140","author":"Lane","year":"2019","journal-title":"Circulation"},{"key":"2026010913043895500_ejhf3088-bib-0003","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.116.003489","article-title":"V122I TTR cardiac amyloidosis in patients of African descent: Recognizing a missed disease or the dog that didn't bark?","volume":"9","author":"Alexander","year":"2016","journal-title":"Circ Heart Fail"},{"key":"2026010913043895500_ejhf3088-bib-0004","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/j.jacc.2020.04.074","article-title":"V122I transthyretin cardiomyopathy: An opportunity to build trust and resolve disparities","volume":"76","author":"Sher","year":"2020","journal-title":"J Am Coll Cardiol"},{"key":"2026010913043895500_ejhf3088-bib-0005","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1001\/jama.2019.17935","article-title":"Association of the V122I hereditary transthyretin amyloidosis genetic variant with heart failure among individuals of African or Hispanic\/Latino ancestry","volume":"322","author":"Rader","year":"2019","journal-title":"JAMA"},{"key":"2026010913043895500_ejhf3088-bib-0006","doi-asserted-by":"crossref","first-page":"733","DOI":"10.1038\/gim.2016.200","article-title":"Transthyretin V122I (pV142I)* cardiac amyloidosis: An age-dependent autosomal dominant cardiomyopathy too common to be overlooked as a cause of significant heart disease in elderly African Americans","volume":"19","author":"Buxbaum","year":"2017","journal-title":"Genet Med"},{"key":"2026010913043895500_ejhf3088-bib-0007","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis","volume":"379","author":"Adams","year":"2018","journal-title":"N Engl J Med"},{"key":"2026010913043895500_ejhf3088-bib-0008","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1056\/NEJMoa1716793","article-title":"Inotersen treatment for patients with hereditary transthyretin amyloidosis","volume":"379","author":"Benson","year":"2018","journal-title":"N Engl J Med"},{"key":"2026010913043895500_ejhf3088-bib-0009","doi-asserted-by":"crossref","first-page":"1007","DOI":"10.1056\/NEJMoa1805689","article-title":"Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy","volume":"379","author":"Maurer","year":"2018","journal-title":"N Engl J Med"},{"key":"2026010913043895500_ejhf3088-bib-0010","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1161\/CIRCULATIONAHA.116.021612","article-title":"Nonbiopsy diagnosis of cardiac transthyretin amyloidosis","volume":"133","author":"Gillmore","year":"2016","journal-title":"Circulation"},{"key":"2026010913043895500_ejhf3088-bib-0011","doi-asserted-by":"crossref","first-page":"3530","DOI":"10.1111\/jocs.15047","article-title":"Racial disparities and cardiovascular disease: One size fits all approach?","volume":"35","author":"Karnati","year":"2020","journal-title":"J Card Surg"},{"key":"2026010913043895500_ejhf3088-bib-0012","doi-asserted-by":"crossref","first-page":"1439","DOI":"10.1093\/eurheartj\/ehz905","article-title":"Echocardiographic phenotype and prognosis in transthyretin cardiac amyloidosis","volume":"41","author":"Chacko","year":"2020","journal-title":"Eur Heart J"},{"key":"2026010913043895500_ejhf3088-bib-0013","doi-asserted-by":"crossref","first-page":"1289","DOI":"10.1093\/ehjci\/jeu107","article-title":"Utility and limitations of 3,3-diphosphono-1, 2-propanodicarboxylic acid scintigraphy in systemic amyloidosis","volume":"15","author":"Hutt","year":"2014","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"2026010913043895500_ejhf3088-bib-0014","doi-asserted-by":"crossref","first-page":"1344","DOI":"10.1093\/ehjci\/jew325","article-title":"Prognostic utility of the Perugini grading of 99mTc-DPD scintigraphy in transthyretin (ATTR) amyloidosis and its relationship with skeletal muscle and soft tissue amyloid","volume":"18","author":"Hutt","year":"2017","journal-title":"Eur Heart J Cardiovasc Imaging"},{"key":"2026010913043895500_ejhf3088-bib-0015","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1148\/radiol.2015141744","article-title":"Differential myocyte responses in patients with cardiac transthyretin amyloidosis and light-chain amyloidosis: A cardiac MR imaging study","volume":"277","author":"Fontana","year":"2015","journal-title":"Radiology"},{"key":"2026010913043895500_ejhf3088-bib-0016","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1177\/10.3.355","article-title":"On the binding of Congo red by amyloid","volume":"10","author":"Puchtler","year":"1962","journal-title":"J Histochem Cytochem"},{"key":"2026010913043895500_ejhf3088-bib-0017","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1016\/j.jcmg.2021.06.022","article-title":"Clinical importance of left atrial infiltration in cardiac transthyretin amyloidosis","volume":"15","author":"Bandera","year":"2021","journal-title":"JACC Cardiovasc Imaging"},{"key":"2026010913043895500_ejhf3088-bib-0018","first-page":"1185","article-title":"Greater hepatic vulnerability after alcohol intake in African Americans compared with Caucasians: A population-based study","volume":"96","author":"Stranges","year":"2004","journal-title":"J Natl Med Assoc"},{"key":"2026010913043895500_ejhf3088-bib-0019","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1016\/1054-8807(95)00057-7","article-title":"Myocardial vacuolization, a marker of ischemic injury, in surveillance cardiac biopsies posttransplant: Correlations with morphologic vascular disease and endothelial dysfunction","volume":"5","author":"Clausell","year":"1996","journal-title":"Cardiovasc Pathol"},{"key":"2026010913043895500_ejhf3088-bib-0020","doi-asserted-by":"crossref","first-page":"1657","DOI":"10.1161\/CIRCULATIONAHA.122.060852","article-title":"Impact of earlier diagnosis in cardiac ATTR amyloidosis over the course of 20\u2009years","volume":"146","author":"Ioannou","year":"2022","journal-title":"Circulation"},{"key":"2026010913043895500_ejhf3088-bib-0021","doi-asserted-by":"crossref","first-page":"810","DOI":"10.1016\/j.jcmg.2018.02.006","article-title":"Native T1 and extracellular volume in transthyretin amyloidosis","volume":"12","author":"Martinez-Naharro","year":"2019","journal-title":"JACC Cardiovasc Imaging"},{"key":"2026010913043895500_ejhf3088-bib-0022","doi-asserted-by":"crossref","first-page":"515","DOI":"10.1002\/ejhf.2776","article-title":"Prevalence, characteristics and outcomes of older patients with hereditary versus wild-type transthyretin amyloid cardiomyopathy","volume":"25","author":"Porcari","year":"2023","journal-title":"Eur J Heart Fail"},{"key":"2026010913043895500_ejhf3088-bib-0023","doi-asserted-by":"crossref","first-page":"946","DOI":"10.1093\/brain\/awg077","article-title":"Homozygosity for CAG mutation in Huntington disease is associated with a more severe clinical course","volume":"126","author":"Squitieri","year":"2003","journal-title":"Brain"},{"key":"2026010913043895500_ejhf3088-bib-0024","doi-asserted-by":"crossref","first-page":"1374","DOI":"10.1111\/1475-6773.13222","article-title":"Understanding how discrimination can affect health","volume":"54","author":"Williams","year":"2019","journal-title":"Health Serv Res"},{"key":"2026010913043895500_ejhf3088-bib-0025","first-page":"3","article-title":"Socioeconomic disparities in life and health expectancy among the household population in Canada","volume":"31","author":"Bushnik","year":"2020","journal-title":"Health Rep"}],"container-title":["European Journal of Heart Failure"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/26\/2\/383\/65514079\/eurjhf_26_2_383.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/eurjhf\/article-pdf\/26\/2\/383\/65514079\/eurjhf_26_2_383.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,9]],"date-time":"2026-01-09T18:05:26Z","timestamp":1767981926000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/eurjhf\/article\/26\/2\/383\/8326993"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,1,28]]},"references-count":25,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2024,1,28]]},"published-print":{"date-parts":[[2024,2,1]]}},"URL":"https:\/\/doi.org\/10.1002\/ejhf.3088","relation":{},"ISSN":["1388-9842","1879-0844"],"issn-type":[{"value":"1388-9842","type":"print"},{"value":"1879-0844","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[2024,2]]},"published":{"date-parts":[[2024,1,28]]},"assertion":[{"value":"2023-07-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2023-11-09","order":1,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2024-01-28","order":2,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}]}}