{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T14:43:37Z","timestamp":1777387417323,"version":"3.51.4"},"reference-count":33,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2020,2,1]],"date-time":"2020-02-01T00:00:00Z","timestamp":1580515200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"funder":[{"DOI":"10.13039\/100004319","name":"Pfizer","doi-asserted-by":"publisher","id":[{"id":"10.13039\/100004319","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","internationaljournalofcardiology.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["International Journal of Cardiology"],"published-print":{"date-parts":[[2020,2]]},"DOI":"10.1016\/j.ijcard.2019.10.028","type":"journal-article","created":{"date-parts":[[2019,10,19]],"date-time":"2019-10-19T11:04:40Z","timestamp":1571483080000},"page":"220-225","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":4,"special_numbering":"C","title":["Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting"],"prefix":"10.1016","volume":"301","author":[{"given":"Carmen","family":"Lahuerta","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sebasti\u00e1n","family":"Menao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Anyuli","family":"Gracia-Gutierrez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Esperanza","family":"Bueno-Juana","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Natalia","family":"Guill\u00e9n","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"V\u00edctor","family":"Sorribas","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alejandro Andr\u00e9s","family":"Gracia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Miguel A.","family":"Aibar","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"78","reference":[{"key":"10.1016\/j.ijcard.2019.10.028_bib1","doi-asserted-by":"crossref","first-page":"2641","DOI":"10.1016\/S0140-6736(15)01274-X","article-title":"Systemic amyloidosis","volume":"387","author":"Wechalekar","year":"2016","journal-title":"Lancet"},{"key":"10.1016\/j.ijcard.2019.10.028_bib2","doi-asserted-by":"crossref","first-page":"453","DOI":"10.1038\/nature05695","article-title":"Atomic structures of amyloid cross-beta spines reveal varied steric zippers","volume":"447","author":"Sawaya","year":"2007","journal-title":"Nature"},{"key":"10.1016\/j.ijcard.2019.10.028_bib3","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1080\/13506129.2016.1257986","article-title":"Amyloid fibril proteins and amyloidosis: chemical identification and clinical classification International Society of Amyloidosis 2016 Nomenclature Guidelines","volume":"23","author":"Sipe","year":"2016","journal-title":"Amyloid"},{"key":"10.1016\/j.ijcard.2019.10.028_bib4","doi-asserted-by":"crossref","first-page":"53","DOI":"10.1016\/j.cpcardiol.2012.11.002","article-title":"Current trends in diagnosis and management of cardiac amyloidosis","volume":"38","author":"Esplin","year":"2013","journal-title":"Curr. Probl. Cardiol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib5","doi-asserted-by":"crossref","first-page":"2451","DOI":"10.1016\/j.jacc.2015.09.075","article-title":"Diagnosis, prognosis, and therapy of transthyretin amyloidosis","volume":"66","author":"Gertz","year":"2015","journal-title":"J. Am. Coll. Cardiol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib6","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1042\/CS20160413","article-title":"Transthyretin amyloidosis: an under-recognized neuropathy and cardiomyopathy","volume":"131","author":"Galant","year":"2017","journal-title":"Clin Sci. (Lond)"},{"key":"10.1016\/j.ijcard.2019.10.028_bib7","doi-asserted-by":"crossref","first-page":"10","DOI":"10.1159\/000444206","article-title":"The prevalence and management of systemic amyloidosis in western countries","volume":"2","author":"Nienhuis","year":"2016","journal-title":"Kidney Dis."},{"key":"10.1016\/j.ijcard.2019.10.028_bib8","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1038\/nrcardio.2014.165","article-title":"Pathophysiology and treatment of cardiac amyloidosis","volume":"12","author":"Gertz","year":"2015","journal-title":"Nat. Rev. Cardiol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib9","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1016\/j.acvd.2013.06.051","article-title":"Cardiac amyloidosis: updates in diagnosis and management","volume":"106","author":"Mohty","year":"2013","journal-title":"Arch Cardiovasc Dis"},{"key":"10.1016\/j.ijcard.2019.10.028_bib10","doi-asserted-by":"crossref","first-page":"2404","DOI":"10.1161\/CIRCULATIONAHA.116.021612","article-title":"Nonbiopsy diagnosis of cardiac transthyretin amyloidosis","volume":"133","author":"Gilmore","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2019.10.028_bib11","doi-asserted-by":"crossref","first-page":"1357","DOI":"10.1161\/CIRCULATIONAHA.116.024438","article-title":"Addressing common questions encountered in the diagnosis and management of cardiac amyloidosis","volume":"135","author":"Maurer","year":"2017","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2019.10.028_bib12","doi-asserted-by":"crossref","first-page":"S14","DOI":"10.1097\/WCO.0000000000000289","article-title":"First European consensus for diagnosis, management, and treatment of transthyretin familial amyloid polyneuropathy","volume":"Suppl 1","author":"Adams","year":"2016","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib13","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1161\/CIRCULATIONAHA.115.020351","article-title":"Wild-type transthyretin amyloid cardiomyopathy: a missed cause of heart failure with preserved ejection fraction with evolving treatment implications","volume":"133","author":"Liu","year":"2016","journal-title":"Circulation"},{"key":"10.1016\/j.ijcard.2019.10.028_bib14","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1007\/978-1-4939-6442-0_2","article-title":"Genotyping DNA variants with high-resolution melting analysis","volume":"1492","author":"Vossen","year":"2017","journal-title":"Methods Mol. Biol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib15","doi-asserted-by":"crossref","first-page":"853","DOI":"10.1373\/49.6.853","article-title":"High-resolution genotyping by amplicon melting analysis using LCGreen","volume":"49","author":"Wittwer","year":"2003","journal-title":"Clin. Chem."},{"key":"10.1016\/j.ijcard.2019.10.028_bib16","doi-asserted-by":"crossref","first-page":"405","DOI":"10.1007\/s10549-008-0073-7","article-title":"High-resolution melting analysis for rapid screening of BRCA1 and BRCA2 Spanish mutations","volume":"115","author":"de Juan","year":"2009","journal-title":"Breast Canc. Res. Treat."},{"key":"10.1016\/j.ijcard.2019.10.028_bib17","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1186\/1471-2407-11-265","article-title":"A high-throughput protocol for mutation scanning of the BRCA1 and BRCA2 genes","volume":"11","author":"Hondow","year":"2011","journal-title":"BMC Canc."},{"key":"10.1016\/j.ijcard.2019.10.028_bib18","doi-asserted-by":"crossref","first-page":"155","DOI":"10.2353\/jmoldx.2009.080110","article-title":"High resolution melting analysis for JAK2 Exon 14 and Exon 12 mutations: a diagnostic tool for myeloproliferative neoplasms","volume":"11","author":"Rapado","year":"2009","journal-title":"J. Mol. Diagn."},{"key":"10.1016\/j.ijcard.2019.10.028_bib19","doi-asserted-by":"crossref","first-page":"340","DOI":"10.1016\/j.clinbiochem.2014.09.013","article-title":"High-throughput screening of extended RAS mutations based on high-resolution melting analysis for prediction of anti-EGFR treatment efficacy in colorectal carcinoma","volume":"47","author":"Ishige","year":"2014","journal-title":"Clin. Biochem."},{"key":"10.1016\/j.ijcard.2019.10.028_bib20","doi-asserted-by":"crossref","first-page":"219","DOI":"10.1586\/erm.09.84","article-title":"High-resolution DNA melting analysis in clinical research and diagnostics","volume":"10","author":"Montgomery","year":"2010","journal-title":"Expert Rev. Mol. Diagn"},{"key":"10.1016\/j.ijcard.2019.10.028_bib21","doi-asserted-by":"crossref","first-page":"13468","DOI":"10.1038\/srep13468","article-title":"Identification of gene mutation in patiens with osteogenesis imperfect using high resolution melting analysis","volume":"5","author":"Wang","year":"2015","journal-title":"Sci. Rep."},{"key":"10.1016\/j.ijcard.2019.10.028_bib22","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1016\/j.recesp.2016.06.007","article-title":"Cardiac involvement secondary to a familial form of transthyretin amyloidosis resulting from the Glu54Gln mutation","volume":"70","author":"Torres-Courchoud","year":"2017","journal-title":"Rev. Esp. Cardiol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib23","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1016\/j.jmoldx.2013.08.001","article-title":"Homozygosity for the V122I mutation in transthyretin is associated with earlier onset of cardiac amyloidosis in the African American population in the seventh decade of life","volume":"16","author":"Reddi","year":"2014","journal-title":"J. Mol. Diagn."},{"key":"10.1016\/j.ijcard.2019.10.028_bib24","doi-asserted-by":"crossref","first-page":"783","DOI":"10.1038\/s41431-019-0337-1","article-title":"Estimating the prevalence of allelic variants in the transthyretin gene by analysing large-scale sequencing data","volume":"27","author":"Lahuerta Pueyo","year":"2019","journal-title":"Eur. J. Hum. Genet."},{"key":"10.1016\/j.ijcard.2019.10.028_bib25","doi-asserted-by":"crossref","first-page":"58","DOI":"10.3109\/13506129.2015.1135792","article-title":"Carpal tunnel syndrome: a common initial symptom of systemic wild-type ATTR (ATTRwt) amyloidosis","volume":"23","author":"Nakagawa","year":"2016","journal-title":"Amyloid"},{"issue":"Suppl 1","key":"10.1016\/j.ijcard.2019.10.028_bib26","doi-asserted-by":"crossref","first-page":"S3","DOI":"10.1097\/WCO.0000000000000288","article-title":"Sixty years of transthyretin familial amyloid polyneuropathy (TTR-FAP) in Europe: where are we now? A European network approach to defining the epidemiology and management patterns for TTR-FAP","volume":"29","author":"Parman","year":"2016","journal-title":"Curr. Opin. Neurol."},{"key":"10.1016\/j.ijcard.2019.10.028_bib27","doi-asserted-by":"crossref","first-page":"1826","DOI":"10.1093\/eurheartj\/ehv583","article-title":"Prevalence and clinical phenotype of hereditary transthyretin amyloid cardiomyopathy in patients with increased left ventricular wall thickness","volume":"37","author":"Damy","year":"2016","journal-title":"Eur. Heart J."},{"key":"10.1016\/j.ijcard.2019.10.028_bib28","doi-asserted-by":"crossref","first-page":"282","DOI":"10.3109\/13506129909007341","article-title":"Usefulness of MALDI\/TOF mass spectrometry of immunoprecipitated serum variant transthyretin in the diagnosis of familial amyloid polyneuropathy","volume":"6","author":"Tachibana","year":"1999","journal-title":"Amyloid"},{"issue":"6","key":"10.1016\/j.ijcard.2019.10.028_bib29","doi-asserted-by":"crossref","first-page":"1223","DOI":"10.1373\/clinchem.2008.118505","article-title":"SELDI-TOF mass spectrometry evaluation of variant transthyretins for diagnosis and pathogenesis of familial amyloidotic polyneuropathy","volume":"55","author":"Ueda","year":"2009","journal-title":"Clin. Chem."},{"issue":"4","key":"10.1016\/j.ijcard.2019.10.028_bib30","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1177\/0004563215605541","article-title":"Rapid detection of wild-type and mutated transthyretins","volume":"53","author":"Tasaki","year":"2016","journal-title":"Ann. Clin. Biochem."},{"key":"10.1016\/j.ijcard.2019.10.028_bib31","doi-asserted-by":"crossref","first-page":"116","DOI":"10.1186\/s13023-019-1100-y","article-title":"New simple and quick method to analyze serum variant transthyretins: direct MALDI method for the screening of hereditary transthyretin amyloidosis","volume":"14","author":"Nomura","year":"2019","journal-title":"Orphanet J. Rare Dis."},{"key":"10.1016\/j.ijcard.2019.10.028_bib32","doi-asserted-by":"crossref","first-page":"197","DOI":"10.1016\/j.cca.2012.09.012","article-title":"High-resolution melting: applications in genetic disorders","volume":"414","author":"Er","year":"2012","journal-title":"Clin. Chim. Acta"},{"key":"10.1016\/j.ijcard.2019.10.028_bib33","doi-asserted-by":"crossref","first-page":"597","DOI":"10.2217\/14622416.8.6.597","article-title":"High-resolution DNA melting analysis for simple and efficient molecular diagnostics","volume":"8","author":"Reed","year":"2007","journal-title":"Pharmacogenomics"}],"container-title":["International Journal of Cardiology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527319313014?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0167527319313014?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,9,28]],"date-time":"2025-09-28T20:45:37Z","timestamp":1759092337000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0167527319313014"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,2]]},"references-count":33,"alternative-id":["S0167527319313014"],"URL":"https:\/\/doi.org\/10.1016\/j.ijcard.2019.10.028","relation":{},"ISSN":["0167-5273"],"issn-type":[{"value":"0167-5273","type":"print"}],"subject":[],"published":{"date-parts":[[2020,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Diagnosis of genetic amyloidosis through the analysis of transthyretin gene mutation using high-resolution melting","name":"articletitle","label":"Article Title"},{"value":"International Journal of Cardiology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.ijcard.2019.10.028","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2019 Elsevier B.V. All rights reserved.","name":"copyright","label":"Copyright"}]}}