{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,28]],"date-time":"2026-02-28T04:33:03Z","timestamp":1772253183633,"version":"3.50.1"},"reference-count":20,"publisher":"Sociedade Brasileira de Cardiologia","issue":"4","license":[{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"am","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2024,1,1]],"date-time":"2024-01-01T00:00:00Z","timestamp":1704067200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Bras. Cardiol."],"abstract":"<jats:p>Resumo  Fundamento: A amiloidose por transtirretina (ATTR) \u00e9 uma doen\u00e7a infiltrativa causada pela deposi\u00e7\u00e3o anormal de prote\u00edna principalmente no cora\u00e7\u00e3o e no sistema nervoso perif\u00e9rico. Quando acomete o cora\u00e7\u00e3o, a doen\u00e7a manifesta-se como uma cardiomiopatia restritiva e, quando afeta o sistema nervoso perif\u00e9rico e aut\u00f4nomo, apresenta-se como uma polineuropatia, podendo ser chamada de Polineuropatia Amiloid\u00f3tica Familiar (PAF). Existem dois subtipos de ATTR, a ATTR selvagem, em que n\u00e3o h\u00e1 variantes gen\u00e9ticas, e a ATTR heredit\u00e1ria, caracterizada por uma variante no gene que codifica a prote\u00edna transtirretina (T\\TR). Em ambos os subtipos, o envolvimento card\u00edaco \u00e9 o principal marcador progn\u00f3stico.  Objetivos: Avaliar a preval\u00eancia do envolvimento card\u00edaco subcl\u00ednico em uma amostra de pacientes com variantes gen\u00e9ticas no gene TTR usando a cintilografia com pirofosfato e o ecocardiograma com strain; comparar os achados cintilogr\u00e1ficos e as medidas de strain; avaliar a associa\u00e7\u00e3o entre PAF e o envolvimento subcl\u00ednico; e analisar se existe uma associa\u00e7\u00e3o entre uma variante gen\u00e9tica espec\u00edfica e o envolvimento card\u00edaco.  M\u00e9todos: Estudo transversal com carreadores de variantes no gene TTR sem sintomas cardiovasculares e sem altera\u00e7\u00f5es nos par\u00e2metros da eletrocardiografia ou do ecocardiograma convencional. Todos os pacientes foram submetidos \u00e0 cintilografia com pirofosfato e \u00e0 ecocardiografia com an\u00e1lise de strain. O envolvimento card\u00edaco subcl\u00ednico, definido como um escore de Perugini \u2265 2, raz\u00e3o Cora\u00e7\u00e3o (C)\/ Hemit\u00f3rax Contralateral (CL) \u2265 1,5 em uma hora, C\/CL \u2265 1,3 na terceira hora, ou um strain longitudinal global (SGL) \u2264 \u221217%. Realizadas an\u00e1lises descritiva e anal\u00edtica, e aplicados o teste exato de Fisher e o teste de Mann-Whitney. Um valor de p&lt;0,05 foi considerado significativo.  Resultados: Os 23 pacientes avaliados apresentavam uma idade mediana de 51 (37-57) anos, 15 (65,2%) eram do sexo feminino, 12 (52,2%) eram pardos, nove (39,1%) apresentavam hipertens\u00e3o arterial sist\u00eamica, e nove (39,1%) tinham um diagn\u00f3stico pr\u00e9vio de PAF. Dos nove pacientes com PAF, oito (34,8%) usavam tafamidis. As variantes gen\u00e9ticas identificadas foram Val142IIe, Val50Met e IIe127Val. O valor mediano do SGL foi \u221219% (-16% \u2013 \u221220%). Dos 23 pacientes, nove (39,1%; 95% CI = 29\u201349%) preencheram os crit\u00e9rios de envolvimento card\u00edaco, seis (26%) somente pelo crit\u00e9rio do SGL. N\u00e3o houve associa\u00e7\u00e3o entre PAF e um carreador assintom\u00e1tico avaliado por ecocardiograma com an\u00e1lise de strain e pela cintilografia com pirofostato (p=0,19). A preval\u00eancia de hipertens\u00e3o arterial sist\u00eamica, diabetes mellitus, dislipidemia, tabagismo e SGL reduzido n\u00e3o foi diferente entre os grupos. A velocidade da onda e\u2019 septal foi a \u00fanica vari\u00e1vel que apresentou diferen\u00e7a significativa entre os indiv\u00edduos com e sem SGL reduzido, com uma \u00e1rea sob a curva ROC de 0,80 (IC95% = 0,61\u20130,98, p = 0,027). A melhor acur\u00e1cia diagn\u00f3stica foi alcan\u00e7ada com uma velocidade e\u2019 septal \u2264 8,5 cm\/s. N\u00e3o houve associa\u00e7\u00e3o entre o tipo de variante gen\u00e9tica e o envolvimento card\u00edaco pr\u00e9-cl\u00ednico, nem entre o uso de tafamidis e este mesmo envolvimento (37,5% versus 40,0%, p = 0,90).  Conclus\u00e3o: O envolvimento card\u00edaco subcl\u00ednico foi frequente em uma amostra de carreadores da variante gen\u00e9tica do gene TTR. Um valor do SGL reduzido foi o achado mais comum. N\u00e3o houve associa\u00e7\u00e3o entre a presen\u00e7a de polineuropatia amiloid\u00f3tica e o envolvimento subcl\u00ednico. O tipo de variante gen\u00e9tica n\u00e3o foi associado com envolvimento card\u00edaco precoce. Nesta amostra, o uso de tafamidis (20mg\/dia) n\u00e3o foi associado com uma menor preval\u00eancia de envolvimento card\u00edaco subcl\u00ednico.<\/jats:p>","DOI":"10.36660\/abc.20230216","type":"journal-article","created":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T13:54:50Z","timestamp":1717595690000},"source":"Crossref","is-referenced-by-count":0,"title":["Avalia\u00e7\u00e3o Cintilogr\u00e1fica e Ecocardiogr\u00e1fica em Portadores de Variantes Patog\u00eanicas ou Provavelmente Patog\u00eanicas do Gene TTR sem Envolvimento Card\u00edaco Manifesto"],"prefix":"10.36660","volume":"121","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-9983-6438","authenticated-orcid":false,"given":"Tonnison de Oliveira","family":"Silva","sequence":"first","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil; Escola Bahiana de Medicina e S\u00fade P\u00fablica,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Eduardo Sahade","family":"Darz\u00e9","sequence":"additional","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marcela Machado","family":"Costa","sequence":"additional","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil; Escola Bahiana de Medicina e S\u00fade P\u00fablica,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Luiz","family":"Jos\u00e9 Junior","sequence":"additional","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-7644-2889","authenticated-orcid":false,"given":"Antonio A. B.","family":"Ximenes","sequence":"additional","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9323-8805","authenticated-orcid":false,"given":"F\u00e1bio","family":"Fernandes","sequence":"additional","affiliation":[{"name":"Instituto do Cora\u00e7\u00e3o do Hospital das Cl\u00ednicas da Faculdade de Medicina da Universidade de S\u00e3o Paulo,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M\u00e1rio de Seixas","family":"Rocha","sequence":"additional","affiliation":[{"name":"Escola Bahiana de Medicina e S\u00fade P\u00fablica,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6800-8100","authenticated-orcid":false,"given":"Marcia M.","family":"Noya-Rabelo","sequence":"additional","affiliation":[{"name":"Escola Bahiana de Medicina e S\u00fade P\u00fablica,  Brasil; Hospital S\u00e3o Rafael,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9320-7999","authenticated-orcid":false,"given":"Luiz Eduardo Fonteles","family":"Ritt","sequence":"additional","affiliation":[{"name":"Hospital Cardio Pulmonar,  Brasil; Escola Bahiana de Medicina e S\u00fade P\u00fablica,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"22636","published-online":{"date-parts":[[2024]]},"reference":[{"issue":"4","key":"ref1","doi-asserted-by":"crossref","first-page":"488","DOI":"10.1016\/j.jaccao.2021.06.006","article-title":"ATTR Amyloidosis: Current and Emerging Management Strategies: JACC: CardioOncology State-of-the-Art Review","volume":"3","author":"Griffin JM","year":"2021","journal-title":"JACC CardioOncol"},{"issue":"9","key":"ref2","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCHEARTFAILURE.119.006075","article-title":"Expert Consensus Recommendations for the Suspicion and Diagnosis of Transthyretin Cardiac Amyloidosis","volume":"12","author":"Maurer MS","year":"2019","journal-title":"Circ Heart Fail"},{"issue":"22","key":"ref3","doi-asserted-by":"crossref","first-page":"2872","DOI":"10.1016\/j.jacc.2019.04.003","article-title":"Transthyretin Amyloid Cardiomyopathy: JACC State-of-the-Art Review","volume":"73","author":"Ruberg FL","year":"2019","journal-title":"J Am Coll Cardiol"},{"issue":"9","key":"ref4","doi-asserted-by":"crossref","first-page":"609","DOI":"10.1590\/0004-282x20180094","article-title":"Brazilian Consensus for Diagnosis, Management and Treatment of Transthyretin Familial Amyloid Polyneuropathy","volume":"76","author":"Pinto MV","year":"2018","journal-title":"Arq Neuropsiquiatr"},{"issue":"11","key":"ref5","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 MS","year":"2018","journal-title":"N Engl J Med"},{"issue":"38","key":"ref6","doi-asserted-by":"crossref","first-page":"2585","DOI":"10.1093\/eurheartj\/ehv338","article-title":"Wild-type Transthyretin Amyloidosis as a Cause of Heart Failure with Preserved Ejection Fraction","volume":"36","author":"Gonz\u00e1lez-L\u00f3pez E","year":"2015","journal-title":"Eur Heart J"},{"issue":"6","key":"ref7","doi-asserted-by":"crossref","first-page":"2065","DOI":"10.1007\/s12350-019-01760-6","article-title":"ASNC\/AHA\/ASE\/EANM\/HFSA\/ISA\/SCMR\/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 1 of 2-evidence Base and Standardized Methods of Imaging","volume":"26","author":"Dorbala S","year":"2019","journal-title":"J Nucl Cardiol"},{"issue":"11","key":"ref8","doi-asserted-by":"crossref","first-page":"854","DOI":"10.1016\/j.cardfail.2019.08.002","article-title":"ASNC\/AHA\/ASE\/EANM\/HFSA\/ISA\/SCMR\/SNMMI Expert Consensus Recommendations for Multimodality Imaging in Cardiac Amyloidosis: Part 2 of 2-Diagnostic Criteria and Appropriate Utilization","volume":"25","author":"Dorbala S","year":"2019","journal-title":"J Card Fail"},{"issue":"1","key":"ref9","doi-asserted-by":"crossref","first-page":"158","DOI":"10.1007\/s12350-018-01552-4","article-title":"State-of-the-art Radionuclide Imaging in Cardiac Transthyretin Amyloidosis","volume":"26","author":"Singh V","year":"2019","journal-title":"J Nucl Cardiol"},{"issue":"6","key":"ref10","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1016\/j.jacc.2005.05.073","article-title":"Noninvasive Etiologic Diagnosis of Cardiac Amyloidosis Using 99mTc-3,3-diphosphono-1,2-propanodicarboxylic acid Scintigraphy","volume":"46","author":"Perugini E","year":"2005","journal-title":"J Am Coll Cardiol"},{"issue":"24","key":"ref11","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 JD","year":"2016","journal-title":"Circulation"},{"issue":"2","key":"ref12","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1016\/j.echo.2014.11.003","article-title":"Definitions for a Common Standard for 2D Speckle Tracking Echocardiography: Consensus Document of the EACVI\/ASE\/Industry Task Force to Standardize Deformation Imaging","volume":"28","author":"Voigt JU","year":"2015","journal-title":"J Am Soc Echocardiogr"},{"issue":"2 Pt 1","key":"ref13","doi-asserted-by":"crossref","first-page":"260","DOI":"10.1016\/j.jcmg.2017.11.017","article-title":"Assessment of Left Ventricular Function by Echocardiography: The Case for Routinely Adding Global Longitudinal Strain to Ejection Fraction","volume":"11","author":"Potter E","year":"2018","journal-title":"JACC Cardiovasc Imaging"},{"issue":"8","key":"ref14","doi-asserted-by":"crossref","first-page":"1122","DOI":"10.1016\/j.jcmg.2018.03.025","article-title":"Contemporary Role of Echocardiography for Clinical Decision Making in Patients During and After Cancer Therapy","volume":"11","author":"Liu J","year":"2018","journal-title":"JACC Cardiovasc Imaging"},{"issue":"3","key":"ref15","doi-asserted-by":"crossref","DOI":"10.1161\/CIRCIMAGING.116.005588","article-title":"Echo Parameters for Differential Diagnosis in Cardiac Amyloidosis: A Head-to-Head Comparison of Deformation and Nondeformation Parameters","volume":"10","author":"Pagourelias ED","year":"2017","journal-title":"Circ Cardiovasc Imaging"},{"issue":"1","key":"ref16","doi-asserted-by":"crossref","first-page":"21","DOI":"10.1056\/NEJMoa1404852","article-title":"The Amyloidogenic V122I Transthyretin Variant in Elderly Black Americans","volume":"372","author":"Quarta CC","year":"2015","journal-title":"N Engl J Med"},{"issue":"6","key":"ref17","first-page":"1","article-title":"Association of the V122I Transthyretin Amyloidosis Genetic Variant With Cardiac Structure and Function in Middle-aged Black Adults: Coronary Artery Risk Development in Young Adults (CARDIA) Study","volume":"6","author":"Sinha A","year":"2020","journal-title":"JAMA Cardiol"},{"issue":"6","key":"ref18","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.jcmg.2016.06.003","article-title":"Can 99mTc-Pyrophosphate Aid in Early Detection of Cardiac Involvement in Asymptomatic Variant TTR Amyloidosis?","volume":"10","author":"Haq M","year":"2017","journal-title":"JACC Cardiovasc Imaging"},{"issue":"7","key":"ref19","doi-asserted-by":"crossref","first-page":"387","DOI":"10.1038\/s41582-019-0210-4","article-title":"Hereditary Transthyretin Amyloidosis: A Model of Medical Progress for a Fatal Disease","volume":"15","author":"Adams D","year":"2019","journal-title":"Nat Rev Neurol"},{"issue":"1","key":"ref20","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 T","year":"2019","journal-title":"Circulation"}],"container-title":["Arquivos Brasileiros de Cardiologia"],"original-title":["Scintigraphic and Echocardiographic Study of Patients with Pathogenic or Probably Pathogenic Variants of the TTR Gene without Overt Cardiac Involvement"],"link":[{"URL":"https:\/\/abccardiol.org\/wp-content\/uploads\/articles_xml\/0066-782X-abc-121-04-e20230216\/0066-782X-abc-121-04-e20230216.x47225.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,6,5]],"date-time":"2024-06-05T13:55:09Z","timestamp":1717595709000},"score":1,"resource":{"primary":{"URL":"https:\/\/abccardiol.org\/article\/avaliacao-cintilografica-e-ecocardiografica-em-portadores-de-variantes-patogenicas-ou-provavelmente-patogenicas-do-gene-ttr-sem-envolvimento-cardiaco-manifesto\/"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2024]]},"references-count":20,"journal-issue":{"issue":"4","published-online":{"date-parts":[[2024]]}},"alternative-id":["S0066-782X2024000400312"],"URL":"https:\/\/doi.org\/10.36660\/abc.20230216","relation":{"is-translation-of":[{"id-type":"doi","id":"10.36660\/abc.20230216i","asserted-by":"subject"},{"id-type":"doi","id":"10.36660\/abc.20230216i","asserted-by":"object"}]},"ISSN":["1678-4170","0066-782X"],"issn-type":[{"value":"1678-4170","type":"electronic"},{"value":"0066-782X","type":"print"}],"subject":[],"published":{"date-parts":[[2024]]},"article-number":"e20230216"}}