{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,11,7]],"date-time":"2026-11-07T10:45:00Z","timestamp":1794048300664,"version":"4.8.0"},"reference-count":92,"publisher":"MDPI AG","issue":"10","license":[{"start":{"date-parts":[[2024,10,16]],"date-time":"2024-10-16T00:00:00Z","timestamp":1729036800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["CIMB"],"abstract":"<jats:p>Amyloidosis refers to a group of diseases caused by extracellular deposits of misfolded proteins, which alter tissue function and structure, potentially affecting any organ. The term \u201camyloid\u201d was introduced in the 19th century and later associated with pathological protein deposits. Amyloid fibrils, which are insoluble and resistant to degradation, originate from soluble proteins that undergo misfolding. This process can be triggered by several factors, such as aging, elevated protein concentrations, or pathogenic variants. Amyloid deposits damage organs both by disrupting tissue architecture and through direct cytotoxic effects, leading to conditions such as heart failure. Amyloidosis can be classified into acquired or inherited forms and can be systemic or localized. Diagnosing cardiac amyloidosis is complex and often requires tissue biopsies, which are supported by Congo Red dye staining. In some cases, bisphosphonate bone scans may provide a less invasive diagnostic option. In this state-of-the-art review, we focus on the most common forms of cardiac amyloidosis, from epidemiology to therapy, emphasizing the differences in molecular mechanisms and the importance of pathological diagnosis for appropriate treatment using a multidisciplinary approach.<\/jats:p>","DOI":"10.3390\/cimb46100684","type":"journal-article","created":{"date-parts":[[2024,10,18]],"date-time":"2024-10-18T07:41:42Z","timestamp":1729237302000},"page":"11519-11536","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":6,"title":["Cardiac Amyloidosis: State-of-the-Art Review in Molecular Pathology"],"prefix":"10.3390","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0009-0002-7531-3178","authenticated-orcid":false,"given":"Cecilia","family":"Salzillo","sequence":"first","affiliation":[{"name":"Department of Experimental Medicine, PhD Course in Public Health, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"},{"name":"Department of Precision and Regenerative Medicine and Ionian Area, Pathology Unit, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Renato","family":"Franco","sequence":"additional","affiliation":[{"name":"Department of Mental and Physical Health and Preventive Medicine, Pathology Unit, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Ronchi","sequence":"additional","affiliation":[{"name":"Department of Mental and Physical Health and Preventive Medicine, Pathology Unit, University of Campania \u201cLuigi Vanvitelli\u201d, 80138 Naples, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-5329-6575","authenticated-orcid":false,"given":"Andrea","family":"Quaranta","sequence":"additional","affiliation":[{"name":"Department of Precision and Regenerative Medicine and Ionian Area, Pathology Unit, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1265-3685","authenticated-orcid":false,"given":"Andrea","family":"Marzullo","sequence":"additional","affiliation":[{"name":"Department of Precision and Regenerative Medicine and Ionian Area, Pathology Unit, University of Bari \u201cAldo Moro\u201d, 70121 Bari, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2024,10,16]]},"reference":[{"key":"ref_1","unstructured":"Bustamante, J.G., and Zaidi, S.R.H. (2023). Amyloidosis. StatPearls, StatPearls Publishing."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"88","DOI":"10.1006\/jsbi.2000.4221","article-title":"Review: History of the Amyloid Fibril","volume":"130","author":"Sipe","year":"2000","journal-title":"J. Struct. Biol."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"ITC33","DOI":"10.7326\/AITC202303210","article-title":"Cardiac Amyloidosis","volume":"176","author":"Bloom","year":"2023","journal-title":"Ann. Intern. Med."},{"key":"ref_4","unstructured":"Shams, P., and Ahmed, I. (2023). Cardiac Amyloidosis. StatPearls, StatPearls Publishing."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Writing Committee, Kittleson, M.M., Ruberg, F.L., Ambardekar, A.V., Brannagan, T.H., Cheng, R.K., Clarke, J.O., Dember, L.M., Frantz, J.G., and Hershberger, R.E. (2023). 2023 ACC Expert Consensus Decision Pathway on Comprehensive Multidisciplinary Care for the Patient with Cardiac Amyloidosis: A Report of the American College of Cardiology Solution Set Oversight Committee. J. Am. Coll. Cardiol., 81, 1076\u20131126.","DOI":"10.1016\/j.jacc.2022.11.022"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1085","DOI":"10.1016\/j.jacc.2024.01.010","article-title":"Histological Typing in Patients With Cardiac Amyloidosis: JACC Review Topic of the Week","volume":"83","author":"McPhail","year":"2024","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1093\/eurheartj\/ehx350","article-title":"Unveiling transthyretin cardiac amyloidosis and its pre-dictors among elderly patients with severe aortic stenosis undergoing transcatheter aortic valve replacement","volume":"38","author":"Narotsky","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2342","DOI":"10.1002\/ejhf.2532","article-title":"Redefining the epidemiology of cardiac amyloidosis. A systematic review and meta-analysis of screening studies","volume":"24","author":"Aimo","year":"2022","journal-title":"Eur. J. Heart Fail."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"s30","DOI":"10.7861\/clinmedicine.18-2-s30","article-title":"Cardiac amyloidosis","volume":"18","author":"Hawkins","year":"2018","journal-title":"Clin. Med."},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"e005407","DOI":"10.1161\/CIRCHEARTFAILURE.118.005407","article-title":"Epidemiology of Cardiac Amyloidosis\u2013Associated Heart Failure Hospitalizations Among Fee-for-Service Medicare Beneficiaries in the United States","volume":"12","author":"Gilstrap","year":"2019","journal-title":"Circ. Heart Fail."},{"key":"ref_11","first-page":"213","article-title":"Amyloid nomenclature 2022: Update, novel proteins, and recommendations by the International Society of Amyloidosis (ISA) Nomen-clature Committee","volume":"29","author":"Buxbaum","year":"2022","journal-title":"Amyloid Int. J. Exp. Clin. Investig. Off. J. Int. Soc. Amyloidosis"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1093\/eurheartj\/ehab072","article-title":"Diagnosis and treatment of cardiac amyloidosis: A position statement of the ESC Working Group on Myocardial and Pericardial Diseases","volume":"42","author":"Rapezzi","year":"2021","journal-title":"Eur. Heart J."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"E7","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","year":"2020","journal-title":"Circulation"},{"key":"ref_14","first-page":"244","article-title":"Absence of an increased wall thickness does not rule out cardiac amyloidosis","volume":"31","author":"Muller","year":"2024","journal-title":"Amyloid Int. J. Exp. Clin. Investig. Off. J. Int. Soc. Amyloidosis"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"159","DOI":"10.1182\/blood-2016-01-629790","article-title":"What is new in diagnosis and management of light chain amyloidosis?","volume":"128","author":"Palladini","year":"2016","journal-title":"Blood"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"27","DOI":"10.14797\/mdcvj.1070","article-title":"Light Chain Amyloidosis: Epidemiology, Staging, and Prognostication","volume":"18","author":"Baker","year":"2022","journal-title":"Methodist. DeBakey Cardiovasc. J."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"309","DOI":"10.1002\/ajh.27177","article-title":"Immunoglobulin light chain amyloidosis: 2024 update on diagnosis, prognosis, and treatment","volume":"99","author":"Gertz","year":"2023","journal-title":"Am. J. Hematol."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"465","DOI":"10.1016\/j.mayocp.2018.08.041","article-title":"Incidence of AL Amyloidosis in Olmsted County, Minnesota, 1990 through 2015","volume":"94","author":"Kyle","year":"2019","journal-title":"Mayo Clin. Proc."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1038\/s41408-021-00466-8","article-title":"Racial disparities in patients diagnosed with light chain (AL) amyloidosis","volume":"11","author":"Pezzin","year":"2021","journal-title":"Blood Cancer J."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"898","DOI":"10.1056\/NEJM199709253371306","article-title":"The systemic amyloidoses","volume":"337","author":"Falk","year":"1997","journal-title":"N. Engl. J. Med."},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"2520","DOI":"10.1182\/blood-2006-03-001164","article-title":"Dangerous small B-cell clones","volume":"108","author":"Merlini","year":"2006","journal-title":"Blood"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"4280","DOI":"10.1016\/j.jmb.2016.08.021","article-title":"The Kinetic Stability of a Full-Length Antibody Light Chain Dimer Determines whether Endoprote-olysis Can Release Amyloidogenic Variable Domains","volume":"428","author":"Morgan","year":"2016","journal-title":"J. Mol. Biol."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"19813","DOI":"10.1074\/jbc.M116.736736","article-title":"Cell Damage in Light Chain Amyloidosis: FIBRIL INTERNALIZATION, TOXICITY AND CELL-MEDIATED SEEDING","volume":"291","author":"Lin","year":"2016","journal-title":"J. Biol. Chem."},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"2295","DOI":"10.1056\/NEJMra2304088","article-title":"Systemic Light Chain Amyloidosis","volume":"390","author":"Sanchorawala","year":"2024","journal-title":"N. Engl. J. Med."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"2101","DOI":"10.1016\/j.jacc.2007.08.028","article-title":"Evaluation and management of the cardiac amyloidosis","volume":"50","author":"Selvanayagam","year":"2007","journal-title":"J. Am. Coll. Cardiol."},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1098","DOI":"10.1093\/eurheartj\/ehu506","article-title":"A study of implanted cardiac rhythm recorders in advanced cardiac AL amy-loidosis","volume":"36","author":"Sayed","year":"2015","journal-title":"Eur. Heart J."},{"key":"ref_27","doi-asserted-by":"crossref","unstructured":"Feitosa, V.A., Neves, P.D.M.M., Jorge, L.B., Noronha, I.L., and Onuchic, L.F. (2022). Renal amyloidosis: A new time for a complete di-agnosis. Braz. J. Med. Biol. Res., 55.","DOI":"10.1590\/1414-431x2022e12284"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"1259","DOI":"10.1007\/s00709-020-01513-0","article-title":"Renal amyloidosis: An update on diagnosis and pathogenesis","volume":"257","author":"Gupta","year":"2020","journal-title":"Protoplasma"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1111\/bjh.13156","article-title":"Guidelines on the diagnosis and investigation of AL amyloidosis","volume":"168","author":"Gillmore","year":"2014","journal-title":"Br. J. Haematol."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"1979","DOI":"10.1038\/leu.2016.191","article-title":"Rationale, application and clinical qualification for NT-proBNP as a surrogate end point in pivotal clinical trials in patients with AL amyloidosis","volume":"30","author":"Merlini","year":"2016","journal-title":"Leukemia"},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"101759","DOI":"10.1016\/j.jaccas.2023.101759","article-title":"TTR Amyloidosis: Current State of Affairs and Promise for the Future","volume":"10","author":"Brailovsky","year":"2023","journal-title":"JACC. Case Rep."},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1007\/s40120-020-00217-0","article-title":"A Narrative Review of the Role of Transthyretin in Health and Disease","volume":"9","author":"Liz","year":"2020","journal-title":"Neurol. Ther."},{"key":"ref_33","first-page":"595","article-title":"Hereditary transthyretin amyloidosis overview","volume":"43","author":"Manganelli","year":"2022","journal-title":"Neurol. Sci. Off. J. Ital. Neurol. Soc. Ital. Soc. Clin. Neurophysiol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"657","DOI":"10.4330\/wjc.v14.i12.657","article-title":"Early and aggressive presentation of wild-type transthyretin amyloid cardiomyopathy: A case report","volume":"14","author":"Boda","year":"2022","journal-title":"World J. Cardiol."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"17","DOI":"10.14797\/mdcvj.1066","article-title":"ATTR Epidemiology, Genetics, and Prognostic Factors","volume":"18","author":"Obi","year":"2022","journal-title":"Methodist. DeBakey Cardiovasc. J."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"525","DOI":"10.1111\/bjh.12286","article-title":"Systemic Amyloidosis in England: An epidemiological study","volume":"161","author":"Pinney","year":"2013","journal-title":"Br. J. Haematol."},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"1036","DOI":"10.1136\/jnnp-2014-308724","article-title":"Transthyretin (ATTR) amyloidosis: Clinical spectrum, molecular pathogenesis and disease-modifying treatments","volume":"86","author":"Sekijima","year":"2015","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"CMC.S15719\u201344","DOI":"10.4137\/CMC.S15719","article-title":"Transthyretin Cardiac Amyloidosis: Pathogenesis, Treatments, and Emerging Role in Heart Failure with Preserved Ejection Fraction","volume":"8s1","author":"Ton","year":"2014","journal-title":"Clin. Med. Insights Cardiol."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1805","DOI":"10.1001\/archinte.166.17.1805","article-title":"Amyloidosis and the heart: A comprehensive review","volume":"166","author":"Shah","year":"2006","journal-title":"Arch. Intern. Med."},{"key":"ref_40","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (2001). Hereditary Transthyretin Amyloidosis. GeneReviews\u00ae, University of Washington."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"203","DOI":"10.1146\/annurev-med-052918-020140","article-title":"Cardiac Amyloidosis: Overlooked, Underappreciated, and Treatable","volume":"71","author":"Rubin","year":"2020","journal-title":"Annu. Rev. Med."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"59","DOI":"10.5334\/gh.1262","article-title":"World Heart Federation Consensus on Transthyretin Amyloidosis Cardiomyopathy (ATTR-CM)","volume":"18","author":"Brito","year":"2023","journal-title":"Glob. Heart"},{"key":"ref_43","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":"ref_44","doi-asserted-by":"crossref","first-page":"B99","DOI":"10.1093\/eurheartjsupp\/suad082","article-title":"Treatment of amyloidosis: Present and future","volume":"25","author":"Mallus","year":"2023","journal-title":"Eur. Heart J. Suppl. J. Eur. Soc. Cardiol."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"312","DOI":"10.1159\/000508022","article-title":"Confirming the Diagnosis of Amyloidosis","volume":"143","author":"Wisniowski","year":"2020","journal-title":"Acta Haematol."},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1905","DOI":"10.1093\/eurheartj\/ehx047","article-title":"Diagnostic sensitivity of abdominal fat aspiration in cardiac amyloidosis","volume":"38","author":"Quarta","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_47","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":"ref_48","first-page":"781","article-title":"Cardiac amyloidosis: Evolving pathogenesis, multimodal diagnostics, and principles of treatment","volume":"22","author":"Medarametla","year":"2023","journal-title":"EXCLI J."},{"key":"ref_49","doi-asserted-by":"crossref","unstructured":"Riek, R. (2016). The Three-Dimensional Structures of Amyloids. Cold Spring Harb. Perspect. Biol., 9.","DOI":"10.1101\/cshperspect.a023572"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"227","DOI":"10.1038\/nature20416","article-title":"The activities of amyloids from a structural perspective","volume":"539","author":"Riek","year":"2016","journal-title":"Nature"},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"1244","DOI":"10.1016\/j.str.2010.08.009","article-title":"Biology of Amyloid: Structure, Function, and Regulation","volume":"18","author":"Greenwald","year":"2010","journal-title":"Structure"},{"key":"ref_52","doi-asserted-by":"crossref","unstructured":"Alraawi, Z., Banerjee, N., Mohanty, S., and Kumar, T.K.S. (2022). Amyloidogenesis: What Do We Know So Far?. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms232213970"},{"key":"ref_53","doi-asserted-by":"crossref","first-page":"86","DOI":"10.1016\/j.pnmrs.2015.05.002","article-title":"Mechanisms of amyloid formation revealed by solution NMR","volume":"88\u201389","author":"Karamanos","year":"2015","journal-title":"Prog. Nucl. Magn. Reson. Spectrosc."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"912","DOI":"10.1038\/s41580-023-00647-2","article-title":"Mechanisms and pathology of protein misfolding and aggregation","volume":"24","author":"Louros","year":"2023","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"ref_55","doi-asserted-by":"crossref","unstructured":"Saito, Y., Nakamura, K., and Ito, H. (2021). Molecular Mechanisms of Cardiac Amyloidosis. Int. J. Mol. Sci., 23.","DOI":"10.3390\/ijms23010025"},{"key":"ref_56","doi-asserted-by":"crossref","unstructured":"Koike, H., and Katsuno, M. (2021). The Ultrastructure of Tissue Damage by Amyloid Fibrils. Molecules, 26.","DOI":"10.3390\/molecules26154611"},{"key":"ref_57","doi-asserted-by":"crossref","unstructured":"Rognoni, P., Mazzini, G., Caminito, S., Palladini, G., and Lavatelli, F. (2021). Dissecting the Molecular Features of Systemic Light Chain (AL) Amyloidosis: Contributions from Proteomics. Medicina, 57.","DOI":"10.3390\/medicina57090916"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"6516","DOI":"10.1038\/s41467-021-26845-0","article-title":"Dissection of the amyloid formation pathway in AL amyloidosis","volume":"12","author":"Kazman","year":"2021","journal-title":"Nat. Commun."},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"e52200","DOI":"10.7554\/eLife.52300","article-title":"Fatal amyloid formation in a patient\u2019s antibody light chain is caused by a single point mutation","volume":"9","author":"Kazman","year":"2020","journal-title":"Elife"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"583","DOI":"10.1056\/NEJMra023144","article-title":"Molecular Mechanisms of Amyloidosis","volume":"349","author":"Merlini","year":"2003","journal-title":"N. Engl. J. Med."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Imperlini, E., Gnecchi, M., Rognoni, P., Sabid\u00f2, E., Ciuffreda, M.C., Palladini, G., Espadas, G., Mancuso, F.M., Bozzola, M., and Malpasso, G. (2017). Proteotoxicity in cardiac amyloidosis: Amyloidogenic light chains affect the levels of intracellular proteins in human heart cells. Sci. Rep., 7.","DOI":"10.1038\/s41598-017-15424-3"},{"key":"ref_62","doi-asserted-by":"crossref","unstructured":"McWilliams-Koeppen, H.P., Foster, J.S., Hackenbrack, N., Ramirez-Alvarado, M., Donohoe, D., Williams, A., Macy, S., Wooliver, C., Wortham, D., and Morrell-Falvey, J. (2015). Light Chain Amyloid Fibrils Cause Metabolic Dys-function in Human Cardiomyocytes. PLoS ONE, 10.","DOI":"10.1371\/journal.pone.0137716"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"1383","DOI":"10.1038\/s41375-019-0640-4","article-title":"Light chain amyloidosis induced inflammatory changes in cardiomyocytes and adipose-derived mesenchymal stromal cells","volume":"34","author":"Jordan","year":"2020","journal-title":"Leukemia"},{"key":"ref_64","first-page":"249","article-title":"Abstract 2402: Matrix Metalloproteinases and their Tissue Inhibitors in Cardiac Amyloidosis: Relationship to Structural and Functional Changes and to Light Chain Amyloid Deposition in the Heart","volume":"1","author":"Ramamurthy","year":"2008","journal-title":"Circulation"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"E2403","DOI":"10.1002\/humu.22619","article-title":"Online Registry for Mutations in Hereditary Amyloidosis Including Nomenclature Recommendations","volume":"35","author":"Rowczenio","year":"2014","journal-title":"Hum. Mutat."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"73","DOI":"10.1016\/j.cell.2005.01.018","article-title":"The Biological and Chemical Basis for Tissue-Selective Amyloid Disease","volume":"121","author":"Sekijima","year":"2005","journal-title":"Cell"},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"1337","DOI":"10.15252\/emmm.201505357","article-title":"A novel mechano-enzymatic cleavage mechanism underlies transthyretin amyloidogenesis","volume":"7","author":"Marcoux","year":"2015","journal-title":"EMBO Mol. Med."},{"key":"ref_68","doi-asserted-by":"crossref","unstructured":"Bezerra, F., Niemietz, C., Schmidt, H.H.J., Zibert, A., Guo, S., Monia, B.P., Gon\u00e7alves, P., Saraiva, M.J., and Almeida, M.R. (2021). In Vitro and In Vivo Effects of SerpinA1 on the Modulation of Transthyretin Proteolysis. Int. J. Mol. Sci., 22.","DOI":"10.3390\/ijms22179488"},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Sant\u2019Anna, R., Almeida, M.R., Varej\u0101o, N., Gallego, P., Esperante, S., Ferreira, P., Pereira-Henriques, A., Palhano, F.L., de Carvalho, M., and Foguel, D. (2017). Cavity filling mutations at the thyroxine-binding site dramatically increase transthyretin stability and prevent its aggregation. Sci. Rep., 7.","DOI":"10.1038\/srep44709"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"1441","DOI":"10.1161\/ATVBAHA.113.301273","article-title":"Genetic Stabilization of Transthyretin, Cerebrovascular Disease, and Life Expectancy","volume":"33","author":"Hornstrup","year":"2013","journal-title":"Arter. Thromb. Vasc. Biol."},{"key":"ref_71","doi-asserted-by":"crossref","unstructured":"Manral, P., and Reixach, N. (2015). Amyloidogenic and nonamyloidogenic transthyretin variants interact differently with human cardio-myocytes: Insights into early events of nonfibrillar tissue damage. Biosci. Rep., 35.","DOI":"10.1042\/BSR20140155"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1895","DOI":"10.1093\/eurheartj\/ehx043","article-title":"Clinical characteristics of wild-type transthyretin cardiac amyloidosis: Disproving myths","volume":"38","author":"Gagliardi","year":"2017","journal-title":"Eur. Heart J."},{"key":"ref_73","first-page":"1","article-title":"Cardiac amyloidosis: Clinical features, pathogenesis, diagnosis, and treatment","volume":"40","author":"Argon","year":"2021","journal-title":"Turk. J. Pathol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"305","DOI":"10.1007\/s11897-024-00669-7","article-title":"Current Therapies and Future Horizons in Cardiac Amyloidosis Treatment","volume":"21","author":"Vogel","year":"2024","journal-title":"Curr. Heart Fail. Rep."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"2620","DOI":"10.1182\/blood.2020006913","article-title":"Management of AL amyloidosis in 2020","volume":"136","author":"Palladini","year":"2020","journal-title":"Blood"},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"989","DOI":"10.1200\/JCO.2011.38.5724","article-title":"Revised Prognostic Staging System for Light Chain Amyloidosis Incorporating Cardiac Biomarkers and Serum Free Light Chain Measurements","volume":"30","author":"Kumar","year":"2012","journal-title":"J. Clin. Oncol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"380","DOI":"10.5500\/wjt.v6.i2.380","article-title":"Long term outcomes of cardiac transplant for immunoglobulin light chain amyloidosis: The Mayo Clinic experience","volume":"6","author":"Grogan","year":"2016","journal-title":"World J. Transplant."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"238961","DOI":"10.1155\/2012\/238961","article-title":"Autologous Stem Cell Transplant for AL Amyloidosis","volume":"2012","author":"Roy","year":"2012","journal-title":"Bone Marrow Res."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"1554","DOI":"10.1161\/CIRCRESAHA.121.318187","article-title":"Pathophysiology and Therapeutic Approaches to Cardiac Amyloidosis","volume":"128","author":"Griffin","year":"2021","journal-title":"Circ. Res."},{"key":"ref_80","first-page":"220","article-title":"Daratumumab in first-line treatment of patients with light chain amyloidosis and Mayo stage IIIb improves treatment response and overall survival","volume":"109","author":"Oubari","year":"2023","journal-title":"Haematologica"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"127","DOI":"10.1007\/s40259-023-00577-7","article-title":"RNA Targeting and Gene Editing Strategies for Transthyretin Amyloidosis","volume":"37","author":"Ioannou","year":"2023","journal-title":"BioDrugs"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"549","DOI":"10.1007\/s40259-022-00549-3","article-title":"Therapeutic siRNA: State-of-the-Art and Future Perspectives","volume":"36","author":"Friedrich","year":"2022","journal-title":"BioDrugs"},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"550","DOI":"10.1016\/j.cardfail.2022.10.013","article-title":"Primary Results from Apollo-B, A Phase 3 Study of Patisiran in Patients with Transthyretin-Mediated Amyloidosis With Cardiomyopathy","volume":"29","author":"Maurer","year":"2023","journal-title":"J. Card. Fail."},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1093\/ehjqcco\/qcab031","article-title":"Health impact of tafamidis in transthyretin amyloid cardiomyopathy patients: An analysis from the Tafamidis in Transthyretin Cardiomyopathy Clinical Trial (ATTR-ACT) and the open-label long-term extension studies","volume":"8","author":"Rozenbaum","year":"2021","journal-title":"Eur. Heart J.-Qual. Care Clin. Outcomes"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"71","DOI":"10.1080\/13506129.2021.2000388","article-title":"Diflunisal treatment is associated with improved survival for patients with early-stage wild-type transthyretin (ATTR) amyloid cardiomyopathy: The Boston University Amy-loidosis Center experience","volume":"29","author":"Siddiqi","year":"2022","journal-title":"Amyloid"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"61","DOI":"10.31083\/j.rcm2502061","article-title":"Establishment of a Comprehensive Cardiac Amyloidosis Center in a Community Hospital Setting","volume":"25","author":"Phuyal","year":"2024","journal-title":"Rev. Cardiovasc. Med."},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"591","DOI":"10.1007\/s40259-022-00550-w","article-title":"Targeting Amyloid Fibrils by Passive Immunotherapy in Systemic Amyloidosis","volume":"36","author":"Nuvolone","year":"2022","journal-title":"BioDrugs"},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"72","DOI":"10.2174\/011573403X240302230925043500","article-title":"Cardiac Amyloidosis: A Contemporary Review of Medical and Surgical Therapy","volume":"20","author":"Brownell","year":"2024","journal-title":"Curr. Cardiol. Rev."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1016\/j.hfc.2022.02.005","article-title":"Cardiac Amyloidosis","volume":"18","author":"Gertz","year":"2022","journal-title":"Heart Fail. Clin."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"27","DOI":"10.14797\/mdcvj.1150","article-title":"Amyloidosis of the Heart and Kidney","volume":"18","author":"Adrogue","year":"2022","journal-title":"Methodist. DeBakey Cardiovasc. J."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"e14308","DOI":"10.1111\/ctr.14308","article-title":"Intermediate-term outcomes of heart transplantation for cardiac amyloidosis in the current era","volume":"35","author":"Vaidya","year":"2021","journal-title":"Clin. Transplant."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"2201","DOI":"10.1007\/s10741-022-10252-8","article-title":"Outcomes of heart transplantation in cardiac amyloidosis: An updated systematic review","volume":"27","author":"Lakhdar","year":"2022","journal-title":"Heart Fail. 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