Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report
Autor(a) principal: | |
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Data de Publicação: | 2021 |
Outros Autores: | , , , |
Tipo de documento: | Artigo |
Idioma: | por |
Título da fonte: | Revista Científica da Faculdade de Medicina de Campos |
Texto Completo: | https://www.fmc.br/ojs/index.php/RCFMC/article/view/555 |
Resumo: | Amyloidosis is a disease characterized by the deposition of amyloid fibrils. When deposited in the heart, they can cause conduction disturbance, restrictive cardiomyopathy, diastolic dysfunction, low output and preserved ejection fraction heart failure (HFpEF), mainly related to transthyretin (TTR). Case description: A 70-year-old man, hypertensive, diabetic and dyslipidemic sought a cardiologist complaining of dyspnea on mild exertion, hyporexia, adynamia and edema in the lower limbs, with jugular turgescence at 45º and second heart sound hyperphonesis on cardiac auscultation. Complementary workup started to better elucidate the etiology of heart failure with electrocardiogram at rest showing low voltage, type B natriuretic peptide in the value of 3920 pg/ml, echocardiogram with biatrial enlargement, concentric hypertrophy of the left ventricle, global systolic function of the left ventricle preserved with an ejection fraction of 65%, hypertrophic septum and a heterogeneous and hyperrefringent infiltrative appearance. Due to the suspicion of amyloidosis, an investigation was carried out with cardiac magnetic resonance, which demonstrated late subendocardial enhancement characteristic of the pathology, and later a genetic test for amyloidosis of familial origin associated with variants in the TTR gene, confirming the diagnosis. Conclusion: Cardiac amyloidosis is a condition described as rare, but with numerous underdiagnosed cases. Conditions previously attributed to normal aging are likely due to cardiac amyloid deposits, leading to HFpEF. The existence of less invasive diagnostic methods, especially with dissociation between echocardiogram and electrocardiogram, contribute to early diagnosis, treatment plan and improved prognosis, modifying the natural history of the disease, avoiding the deposition of fibrils in the tissues. |
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Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case ReportAmiloidose e Insuficiência Cardíaca com fração de ejeção preservada, uma associação mais comum do que as descrições epidemiológicas atuais: Relato de CasoInsuficiência CardíacaAmiloidoseCardiomiopatia RestritivaCardiomyopathy, RestrictiveAmyloidosis is a disease characterized by the deposition of amyloid fibrils. When deposited in the heart, they can cause conduction disturbance, restrictive cardiomyopathy, diastolic dysfunction, low output and preserved ejection fraction heart failure (HFpEF), mainly related to transthyretin (TTR). Case description: A 70-year-old man, hypertensive, diabetic and dyslipidemic sought a cardiologist complaining of dyspnea on mild exertion, hyporexia, adynamia and edema in the lower limbs, with jugular turgescence at 45º and second heart sound hyperphonesis on cardiac auscultation. Complementary workup started to better elucidate the etiology of heart failure with electrocardiogram at rest showing low voltage, type B natriuretic peptide in the value of 3920 pg/ml, echocardiogram with biatrial enlargement, concentric hypertrophy of the left ventricle, global systolic function of the left ventricle preserved with an ejection fraction of 65%, hypertrophic septum and a heterogeneous and hyperrefringent infiltrative appearance. Due to the suspicion of amyloidosis, an investigation was carried out with cardiac magnetic resonance, which demonstrated late subendocardial enhancement characteristic of the pathology, and later a genetic test for amyloidosis of familial origin associated with variants in the TTR gene, confirming the diagnosis. Conclusion: Cardiac amyloidosis is a condition described as rare, but with numerous underdiagnosed cases. Conditions previously attributed to normal aging are likely due to cardiac amyloid deposits, leading to HFpEF. The existence of less invasive diagnostic methods, especially with dissociation between echocardiogram and electrocardiogram, contribute to early diagnosis, treatment plan and improved prognosis, modifying the natural history of the disease, avoiding the deposition of fibrils in the tissues.Introdução: A amiloidose é uma doença caracterizada pelo depósito de fibrilas amiloides. Ao se depositarem no coração podem ocasionar distúrbio da condução, cardiomiopatia restritiva, disfunção diastólica, baixo débito e insuficiência cardíaca de fração de ejeção preservada (ICFEP), principalmente relacionada a transtirretina (TTR). Descrição do caso: Homem de 70 anos, hipertenso, diabético e dislipidêmico procurou o cardiologista queixando-se de dispneia aos pequenos esforços, hiporexia, adinamia e edema em membros inferiores, com turgência jugular a 45º e hiperfonese de segunda bulha na ausculta cardíaca. Iniciada a propedêutica complementar para melhor elucidação da etiologia da insuficiência cardíaca com eletrocardiograma em repouso evidenciando baixa voltagem, peptídeo natriurético do tipo B no valor de 3920 pg/ml, ecocardiograma com aumento biatrial, hipertrofia concêntrica do ventrículo esquerdo, função sistólica global do ventrículo esquerdo preservada com fração de ejeção de 65%, septo hipertrófico e dee aspecto infiltrativo heterogêneo e hiperrefringente. Devido à suspeita de amiloidose foi realizada investigação com ressonância magnética cardíaca, que demonstrou realce tardio subendocárdio característico da patologia e posteriormente teste genético para amiloidose de origem familiar associada a variantes no gene da TTR, confirmando o diagnóstico. Conclusão: A amiloidose cardíaca é uma patologia descrita como rara, porém com inúmeros casos subdiagnosticados. Condições antes atribuídas ao envelhecimento normal provavelmente são decorrentes de depósito amiloide cardíaco, levando à ICFEP. A existência de métodos diagnósticos menos invasivos, principalmente com dissociação entre ecocardiograma e eletrocardiograma, corroboram para o diagnóstico precoce, plano de tratamento e melhora do prognóstico, modificando a história natural da doença, evitando a deposição de fibrilas nos tecidos.Faculdade de Medicina de Campos (FMC)2021-10-29info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://www.fmc.br/ojs/index.php/RCFMC/article/view/55510.29184/1980-7813.rcfmc.555.vol.16.n2.2021Scientific Journal of the Medical School of Campos; Vol. 16 No. 2 (2021); 43-48Revista Científica da Faculdade de Medicina de Campos; v. 16 n. 2 (2021); 43-481980-7813reponame:Revista Científica da Faculdade de Medicina de Camposinstname:Faculdade de Medicina de Campos (FMC)instacron:FMCporhttps://www.fmc.br/ojs/index.php/RCFMC/article/view/555/260Copyright (c) 2021 Revista Científica da Faculdade de Medicina de Camposhttps://creativecommons.org/licenses/by-sa/4.0info:eu-repo/semantics/openAccess Oliveira Potratz, MateusGuimarães Araújo, Caio Silva Moreira da Fraga, RebecaCosta Sylvestre, Rodolfo Araújo Calil, Osmar 2021-11-11T18:22:40Zoai:ojs.www.fmc.br:article/555Revistahttps://www.fmc.br/ojs/index.php/RCFMC/PRIhttps://www.fmc.br/ojs/index.php/RCFMC/oai||revista@fmc.br1980-78131980-7813opendoar:2021-11-11T18:22:40Revista Científica da Faculdade de Medicina de Campos - Faculdade de Medicina de Campos (FMC)false |
dc.title.none.fl_str_mv |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report Amiloidose e Insuficiência Cardíaca com fração de ejeção preservada, uma associação mais comum do que as descrições epidemiológicas atuais: Relato de Caso |
title |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
spellingShingle |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report Oliveira Potratz, Mateus Insuficiência Cardíaca Amiloidose Cardiomiopatia Restritiva Cardiomyopathy, Restrictive |
title_short |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
title_full |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
title_fullStr |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
title_full_unstemmed |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
title_sort |
Amyloidosis and Heart Failure with preserved ejection fraction, a more commom association than current epidemiological descriptions: Case Report |
author |
Oliveira Potratz, Mateus |
author_facet |
Oliveira Potratz, Mateus Guimarães Araújo, Caio Silva Moreira da Fraga, Rebeca Costa Sylvestre, Rodolfo Araújo Calil, Osmar |
author_role |
author |
author2 |
Guimarães Araújo, Caio Silva Moreira da Fraga, Rebeca Costa Sylvestre, Rodolfo Araújo Calil, Osmar |
author2_role |
author author author author |
dc.contributor.author.fl_str_mv |
Oliveira Potratz, Mateus Guimarães Araújo, Caio Silva Moreira da Fraga, Rebeca Costa Sylvestre, Rodolfo Araújo Calil, Osmar |
dc.subject.por.fl_str_mv |
Insuficiência Cardíaca Amiloidose Cardiomiopatia Restritiva Cardiomyopathy, Restrictive |
topic |
Insuficiência Cardíaca Amiloidose Cardiomiopatia Restritiva Cardiomyopathy, Restrictive |
description |
Amyloidosis is a disease characterized by the deposition of amyloid fibrils. When deposited in the heart, they can cause conduction disturbance, restrictive cardiomyopathy, diastolic dysfunction, low output and preserved ejection fraction heart failure (HFpEF), mainly related to transthyretin (TTR). Case description: A 70-year-old man, hypertensive, diabetic and dyslipidemic sought a cardiologist complaining of dyspnea on mild exertion, hyporexia, adynamia and edema in the lower limbs, with jugular turgescence at 45º and second heart sound hyperphonesis on cardiac auscultation. Complementary workup started to better elucidate the etiology of heart failure with electrocardiogram at rest showing low voltage, type B natriuretic peptide in the value of 3920 pg/ml, echocardiogram with biatrial enlargement, concentric hypertrophy of the left ventricle, global systolic function of the left ventricle preserved with an ejection fraction of 65%, hypertrophic septum and a heterogeneous and hyperrefringent infiltrative appearance. Due to the suspicion of amyloidosis, an investigation was carried out with cardiac magnetic resonance, which demonstrated late subendocardial enhancement characteristic of the pathology, and later a genetic test for amyloidosis of familial origin associated with variants in the TTR gene, confirming the diagnosis. Conclusion: Cardiac amyloidosis is a condition described as rare, but with numerous underdiagnosed cases. Conditions previously attributed to normal aging are likely due to cardiac amyloid deposits, leading to HFpEF. The existence of less invasive diagnostic methods, especially with dissociation between echocardiogram and electrocardiogram, contribute to early diagnosis, treatment plan and improved prognosis, modifying the natural history of the disease, avoiding the deposition of fibrils in the tissues. |
publishDate |
2021 |
dc.date.none.fl_str_mv |
2021-10-29 |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
https://www.fmc.br/ojs/index.php/RCFMC/article/view/555 10.29184/1980-7813.rcfmc.555.vol.16.n2.2021 |
url |
https://www.fmc.br/ojs/index.php/RCFMC/article/view/555 |
identifier_str_mv |
10.29184/1980-7813.rcfmc.555.vol.16.n2.2021 |
dc.language.iso.fl_str_mv |
por |
language |
por |
dc.relation.none.fl_str_mv |
https://www.fmc.br/ojs/index.php/RCFMC/article/view/555/260 |
dc.rights.driver.fl_str_mv |
Copyright (c) 2021 Revista Científica da Faculdade de Medicina de Campos https://creativecommons.org/licenses/by-sa/4.0 info:eu-repo/semantics/openAccess |
rights_invalid_str_mv |
Copyright (c) 2021 Revista Científica da Faculdade de Medicina de Campos https://creativecommons.org/licenses/by-sa/4.0 |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Faculdade de Medicina de Campos (FMC) |
publisher.none.fl_str_mv |
Faculdade de Medicina de Campos (FMC) |
dc.source.none.fl_str_mv |
Scientific Journal of the Medical School of Campos; Vol. 16 No. 2 (2021); 43-48 Revista Científica da Faculdade de Medicina de Campos; v. 16 n. 2 (2021); 43-48 1980-7813 reponame:Revista Científica da Faculdade de Medicina de Campos instname:Faculdade de Medicina de Campos (FMC) instacron:FMC |
instname_str |
Faculdade de Medicina de Campos (FMC) |
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FMC |
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FMC |
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Revista Científica da Faculdade de Medicina de Campos |
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Revista Científica da Faculdade de Medicina de Campos |
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Revista Científica da Faculdade de Medicina de Campos - Faculdade de Medicina de Campos (FMC) |
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