{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,27]],"date-time":"2025-09-27T10:58:27Z","timestamp":1758970707603},"reference-count":16,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2024,7,31]]},"DOI":"10.7759\/cureus.65891","type":"journal-article","created":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T02:49:36Z","timestamp":1722480576000},"source":"Crossref","is-referenced-by-count":1,"title":["Rare Variant of Hereditary Amyloid Transthyretin Cardiomyopathy Secondary to Ser97Tyr Mutation"],"prefix":"10.7759","author":[{"given":"Siva Naga S","family":"Yarrarapu","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tarun","family":"Dalia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ilham","family":"Boda","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Amandeep","family":"Goyal","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Andrija","family":"Vidic","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Zubair","family":"Shah","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s10072-020-04889-2","article-title":"Hereditary transthyretin amyloidosis overview","volume":"43","author":"Manganelli F","year":"2022","unstructured":"Manganelli F, Fabrizi GM, Luigetti M, Mandich P, Mazzeo A, Pareyson D. Hereditary transthyretin amyloidosis overview. Neurol Sci. 2022, 43:595-604. 10.1007\/s10072-020-04889-2","journal-title":"Neurol Sci"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1186\/s13023-021-01960-9","article-title":"Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression","volume":"16","author":"Adams D","year":"2021","unstructured":"Adams D, Algalarrondo V, Polydefkis M, Sarswat N, Slama MS, Nativi-Nicolau J. Expert opinion on monitoring symptomatic hereditary transthyretin-mediated amyloidosis and assessment of disease progression. Orphanet J Rare Dis. 2021, 16:411. 10.1186\/s13023-021-01960-9","journal-title":"Orphanet J Rare Dis"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-8-31","article-title":"Guideline of transthyretin-related hereditary amyloidosis for clinicians","volume":"8","author":"Ando Y","year":"2013","unstructured":"Ando Y, Coelho T, Berk JL, et al.. Guideline of transthyretin-related hereditary amyloidosis for clinicians. Orphanet J Rare Dis. 2013, 8:31. 10.1186\/1750-1172-8-31","journal-title":"Orphanet J Rare Dis"},{"key":"ref4","article-title":"Hereditary transthyretin amyloidosis","author":"Sekijima Y","year":"1993","unstructured":"Sekijima Y. Hereditary transthyretin amyloidosis. GeneReviews. Adam MP, Mirzaa GM, Pagon RA (ed): University of Washington, Seattle, WA; 1993."},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1172\/JCI113293","article-title":"Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis","volume":"81","author":"Wallace MR","year":"1988","unstructured":"Wallace MR, Dwulet FE, Williams EC, Conneally PM, Benson MD. Identification of a new hereditary amyloidosis prealbumin variant, Tyr-77, and detection of the gene by DNA analysis. J Clin Invest. 1988, 81:189-93. 10.1172\/JCI113293","journal-title":"J Clin Invest"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1212\/wnl.51.3.708","article-title":"Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy","volume":"51","author":"Plant\u00e9-Bordeneuve V","year":"1998","unstructured":"Plant\u00e9-Bordeneuve V, Lalu T, Misrahi M, Reilly MM, Adams D, Lacroix C, Said G. Genotypic-phenotypic variations in a series of 65 patients with familial amyloid polyneuropathy. Neurology. 1998, 51:708-14. 10.1212\/wnl.51.3.708","journal-title":"Neurology"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1159\/000490553","article-title":"Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal: a nationwide study","volume":"51","author":"In\u00eas M","year":"2018","unstructured":"In\u00eas M, Coelho T, Concei\u00e7\u00e3o I, Duarte-Ramos F, de Carvalho M, Costa J. Epidemiology of transthyretin familial amyloid polyneuropathy in Portugal: a nationwide study. Neuroepidemiology. 2018, 51:177-82. 10.1159\/000490553","journal-title":"Neuroepidemiology"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1055\/s-0042-1751057","article-title":"Multimodality imaging in the diagnosis and assessment of cardiac amyloidosis","volume":"21","author":"Velaga J","year":"2022","unstructured":"Velaga J, Liew C, Choo Poh AC, Lee PT, Lath N, Low SC, Bharadwaj P. Multimodality imaging in the diagnosis and assessment of cardiac amyloidosis. World J Nucl Med. 2022, 21:173-83. 10.1055\/s-0042-1751057","journal-title":"World J Nucl Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.3389\/fcvm.2022.787618","article-title":"Multimodality imaging in the evaluation and prognostication of cardiac amyloidosis","volume":"9","author":"Scheel PJ 3rd","year":"2022","unstructured":"Scheel PJ 3rd, Mukherjee M, Hays AG, Vaishnav J. Multimodality imaging in the evaluation and prognostication of cardiac amyloidosis. Front Cardiovasc Med. 2022, 9:787618. 10.3389\/fcvm.2022.787618","journal-title":"Front Cardiovasc Med"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1161\/CIRCIMAGING.121.009025","article-title":"Cardiac amyloidosis: Multimodal imaging of disease activity and response to treatment","volume":"14","author":"Patel RK","year":"2021","unstructured":"Patel RK, Fontana M, Ruberg FL. Cardiac amyloidosis: Multimodal imaging of disease activity and response to treatment. Circ Cardiovasc Imaging. 2021, 14:e009025. 10.1161\/CIRCIMAGING.121.009025","journal-title":"Circ Cardiovasc Imaging"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1161\/CIR.0000000000000792","article-title":"Cardiac amyloidosis: Evolving diagnosis and management: a scientific statement from the American Heart Association","volume":"142","author":"Kittleson MM","year":"2020","unstructured":"Kittleson MM, Maurer MS, Ambardekar AV, et al.. Cardiac amyloidosis: Evolving diagnosis and management: a scientific statement from the American Heart Association. Circulation. 2020, 142:e7-e22. 10.1161\/CIR.0000000000000792","journal-title":"Circulation"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.14797\/mdcvj.1050","article-title":"Cardiac Amyloidosis Treatment","volume":"18","author":"Stern LK","year":"2022","unstructured":"Stern LK, Patel J. Cardiac Amyloidosis Treatment. Methodist Debakey Cardiovasc J. 2022, 18:59-72. 10.14797\/mdcvj.1050","journal-title":"Methodist Debakey Cardiovasc J"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1007\/s11864-020-00738-8","article-title":"Advances in the treatment of cardiac amyloidosis","volume":"21","author":"Macedo AV","year":"2020","unstructured":"Macedo AV, Schwartzmann PV, de Gusm\u00e3o BM, Melo MD, Coelho-Filho OR. Advances in the treatment of cardiac amyloidosis. Curr Treat Options Oncol. 2020, 21:36. 10.1007\/s11864-020-00738-8","journal-title":"Curr Treat Options Oncol"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1805689","article-title":"Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy","volume":"379","author":"Maurer MS","year":"2018","unstructured":"Maurer MS, Schwartz JH, Gundapaneni B, et al.. Tafamidis treatment for patients with transthyretin amyloid cardiomyopathy. N Engl J Med. 2018, 379:1007-16. 10.1056\/NEJMoa1805689","journal-title":"N Engl J Med"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jchf.2020.09.011","article-title":"Efficacy of tafamidis in patients with hereditary and wild-type transthyretin amyloid cardiomyopathy: further analyses from ATTR-ACT","volume":"9","author":"Rapezzi C","year":"2021","unstructured":"Rapezzi C, Elliott P, Damy T, et al.. Efficacy of tafamidis in patients with hereditary and wild-type transthyretin amyloid cardiomyopathy: further analyses from ATTR-ACT. JACC Heart Fail. 2021, 9:115-23. 10.1016\/j.jchf.2020.09.011","journal-title":"JACC Heart Fail"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMoa1716153","article-title":"Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis","volume":"379","author":"Adams D","year":"2018","unstructured":"Adams D, Gonzalez-Duarte A, O'Riordan WD, et al.. Patisiran, an RNAi therapeutic, for hereditary transthyretin amyloidosis. N Engl J Med. 2018, 379:11-21. 10.1056\/NEJMoa1716153","journal-title":"N Engl J Med"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/269576-rare-variant-of-hereditary-amyloid-transthyretin-cardiomyopathy-secondary-to-ser97tyr-mutation","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,8,1]],"date-time":"2024-08-01T02:49:39Z","timestamp":1722480579000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/269576-rare-variant-of-hereditary-amyloid-transthyretin-cardiomyopathy-secondary-to-ser97tyr-mutation"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024,7,31]]},"references-count":16,"URL":"https:\/\/doi.org\/10.7759\/cureus.65891","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2024,7,31]]}}}