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1.
Arq Bras Cardiol ; 121(2): e20230276, 2024.
Artigo em Português, Inglês | MEDLINE | ID: mdl-38422307

RESUMO

The objective of this case report was to present the progression of chemotherapy-induced cardiotoxicity in a patient with lymphoma, highlighting the importance of myocardial fluor-18-fluorodeoxyglucose (18F-FDG) uptake by positron emission tomography coupled with computed tomography (PET/CT). 43-year-old female patient with uterine lymphoma, who underwent hysterectomy followed by three chemotherapy regimens and radiotherapy. The patient had episodes of acute heart failure two years after chemotherapy. Echocardiogram revealed a reduction in left ventricular ejection fraction (LVEF). A retrospective analysis of 18F-FDG PET/CT showed an increase in myocardial uptake in all tests performed during oncologic treatment. Despite disease remission, the patient developed heart failure with reduced LVEF. During chemotherapy, there was a diffuse, significant increase in myocardial 18F-FDG uptake, which preceded the decrease in myocardial performance and seemed to reflect metabolic changes in cardiomyocytes, related to cardiotoxicity. Would an analysis of myocardial 18F-FDG uptake yield a different cardiac outcome in this patient? This question is relevant, considering that other patients may benefit from the use of PET as an early marker of cardiotoxicity. Imaging tests are essential in the follow-up of patients at risk of cardiotoxicity. Although echocardiography remains the main imaging test in the diagnosis of cardiotoxicity, 18F-FDG PET/CT may be a powerful tool for the early diagnosis of this condition.


O objetivo deste relato é mostrar a evolução da cardiotoxicidade (CTX) por quimioterápicos em paciente com linfoma por exames de imagens, destacando a importância da captação miocárdica de flúor-18 fluordeoxiglicose (18F-FDG) pela tomografia por emissão de pósitrons, acoplada à tomografia computadorizada (PET/CT). Feminino, 43 anos, com linfoma uterino, submetida a histerectomia, três esquemas de quimioterapia (QT), sucessivamente, e radioterapia. Apresentou episódios de insuficiência cardíaca aguda dois anos após QT. Ecocardiograma mostrou redução da fração de ejeção do ventrículo esquerdo (FEVE). Análise retrospectiva do 18F-FDG PET/CT observou elevação da captação miocárdica em todos os exames durante o seguimento oncológico. Apesar da remissão oncológica, a paciente desenvolveu IC com FEVE reduzida. Durante a QT, ocorreu aumento difuso e significativo da captação miocárdica de 18F-FDG, que precedeu a queda do desempenho cardíaco, e pareceu refletir alterações metabólicas nos cardiomiócitos relacionadas à CTX. A análise da captação miocárdica de 18F-FDG modificaria o desfecho cardiológico da paciente? Esse questionamento é relevante, visto que outros pacientes podem se beneficiar desse método como marcador precoce de CTX. Os exames de imagem são imprescindíveis no acompanhamento de pacientes com risco de CTX. O ecocardiograma permanece como principal auxílio diagnóstico, porém o 18F-FDG PET/CT pode estar surgindo como uma poderosa ferramenta para um diagnóstico mais precoce dessa condição clínica.


Assuntos
Insuficiência Cardíaca , Linfoma , Feminino , Humanos , Adulto , Fluordesoxiglucose F18/metabolismo , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Cardiotoxicidade/diagnóstico por imagem , Cardiotoxicidade/etiologia , Volume Sistólico , Estudos Retrospectivos , Função Ventricular Esquerda , Insuficiência Cardíaca/induzido quimicamente , Insuficiência Cardíaca/diagnóstico por imagem
2.
Arq. bras. cardiol ; 121(2): e20230276, 2024. graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1533739

RESUMO

Resumo O objetivo deste relato é mostrar a evolução da cardiotoxicidade (CTX) por quimioterápicos em paciente com linfoma por exames de imagens, destacando a importância da captação miocárdica de flúor-18 fluordeoxiglicose (18F-FDG) pela tomografia por emissão de pósitrons, acoplada à tomografia computadorizada (PET/CT). Feminino, 43 anos, com linfoma uterino, submetida a histerectomia, três esquemas de quimioterapia (QT), sucessivamente, e radioterapia. Apresentou episódios de insuficiência cardíaca aguda dois anos após QT. Ecocardiograma mostrou redução da fração de ejeção do ventrículo esquerdo (FEVE). Análise retrospectiva do 18F-FDG PET/CT observou elevação da captação miocárdica em todos os exames durante o seguimento oncológico. Apesar da remissão oncológica, a paciente desenvolveu IC com FEVE reduzida. Durante a QT, ocorreu aumento difuso e significativo da captação miocárdica de 18F-FDG, que precedeu a queda do desempenho cardíaco, e pareceu refletir alterações metabólicas nos cardiomiócitos relacionadas à CTX. A análise da captação miocárdica de 18F-FDG modificaria o desfecho cardiológico da paciente? Esse questionamento é relevante, visto que outros pacientes podem se beneficiar desse método como marcador precoce de CTX. Os exames de imagem são imprescindíveis no acompanhamento de pacientes com risco de CTX. O ecocardiograma permanece como principal auxílio diagnóstico, porém o 18F-FDG PET/CT pode estar surgindo como uma poderosa ferramenta para um diagnóstico mais precoce dessa condição clínica.


Abstract The objective of this case report was to present the progression of chemotherapy-induced cardiotoxicity in a patient with lymphoma, highlighting the importance of myocardial fluor-18-fluorodeoxyglucose (18F-FDG) uptake by positron emission tomography coupled with computed tomography (PET/CT). 43-year-old female patient with uterine lymphoma, who underwent hysterectomy followed by three chemotherapy regimens and radiotherapy. The patient had episodes of acute heart failure two years after chemotherapy. Echocardiogram revealed a reduction in left ventricular ejection fraction (LVEF). A retrospective analysis of 18F-FDG PET/CT showed an increase in myocardial uptake in all tests performed during oncologic treatment. Despite disease remission, the patient developed heart failure with reduced LVEF. During chemotherapy, there was a diffuse, significant increase in myocardial 18F-FDG uptake, which preceded the decrease in myocardial performance and seemed to reflect metabolic changes in cardiomyocytes, related to cardiotoxicity. Would an analysis of myocardial 18F-FDG uptake yield a different cardiac outcome in this patient? This question is relevant, considering that other patients may benefit from the use of PET as an early marker of cardiotoxicity. Imaging tests are essential in the follow-up of patients at risk of cardiotoxicity. Although echocardiography remains the main imaging test in the diagnosis of cardiotoxicity, 18F-FDG PET/CT may be a powerful tool for the early diagnosis of this condition.

3.
Marin-Neto, José Antonio; Rassi Jr, Anis; Oliveira, Gláucia Maria Moraes; Correia, Luís Claudio Lemos; Ramos Júnior, Alberto Novaes; Luquetti, Alejandro Ostermayer; Hasslocher-Moreno, Alejandro Marcel; Sousa, Andréa Silvestre de; Paola, Angelo Amato Vincenzo de; Sousa, Antônio Carlos Sobral; Ribeiro, Antonio Luiz Pinho; Correia Filho, Dalmo; Souza, Dilma do Socorro Moraes de; Cunha-Neto, Edecio; Ramires, Felix Jose Alvarez; Bacal, Fernando; Nunes, Maria do Carmo Pereira; Martinelli Filho, Martino; Scanavacca, Maurício Ibrahim; Saraiva, Roberto Magalhães; Oliveira Júnior, Wilson Alves de; Lorga-Filho, Adalberto Menezes; Guimarães, Adriana de Jesus Benevides de Almeida; Braga, Adriana Lopes Latado; Oliveira, Adriana Sarmento de; Sarabanda, Alvaro Valentim Lima; Pinto, Ana Yecê das Neves; Carmo, Andre Assis Lopes do; Schmidt, Andre; Costa, Andréa Rodrigues da; Ianni, Barbara Maria; Markman Filho, Brivaldo; Rochitte, Carlos Eduardo; Macêdo, Carolina Thé; Mady, Charles; Chevillard, Christophe; Virgens, Cláudio Marcelo Bittencourt das; Castro, Cleudson Nery de; Britto, Constança Felicia De Paoli de Carvalho; Pisani, Cristiano; Rassi, Daniela do Carmo; Sobral Filho, Dário Celestino; Almeida, Dirceu Rodrigues de; Bocchi, Edimar Alcides; Mesquita, Evandro Tinoco; Mendes, Fernanda de Souza Nogueira Sardinha; Gondim, Francisca Tatiana Pereira; Silva, Gilberto Marcelo Sperandio da; Peixoto, Giselle de Lima; Lima, Gustavo Glotz de; Veloso, Henrique Horta; Moreira, Henrique Turin; Lopes, Hugo Bellotti; Pinto, Ibraim Masciarelli Francisco; Ferreira, João Marcos Bemfica Barbosa; Nunes, João Paulo Silva; Barreto-Filho, José Augusto Soares; Saraiva, José Francisco Kerr; Lannes-Vieira, Joseli; Oliveira, Joselina Luzia Menezes; Armaganijan, Luciana Vidal; Martins, Luiz Cláudio; Sangenis, Luiz Henrique Conde; Barbosa, Marco Paulo Tomaz; Almeida-Santos, Marcos Antonio; Simões, Marcos Vinicius; Yasuda, Maria Aparecida Shikanai; Moreira, Maria da Consolação Vieira; Higuchi, Maria de Lourdes; Monteiro, Maria Rita de Cassia Costa; Mediano, Mauro Felippe Felix; Lima, Mayara Maia; Oliveira, Maykon Tavares de; Romano, Minna Moreira Dias; Araujo, Nadjar Nitz Silva Lociks de; Medeiros, Paulo de Tarso Jorge; Alves, Renato Vieira; Teixeira, Ricardo Alkmim; Pedrosa, Roberto Coury; Aras Junior, Roque; Torres, Rosalia Morais; Povoa, Rui Manoel dos Santos; Rassi, Sergio Gabriel; Alves, Silvia Marinho Martins; Tavares, Suelene Brito do Nascimento; Palmeira, Swamy Lima; Silva Júnior, Telêmaco Luiz da; Rodrigues, Thiago da Rocha; Madrini Junior, Vagner; Brant, Veruska Maia da Costa; Dutra, Walderez Ornelas; Dias, João Carlos Pinto.
Arq. bras. cardiol ; 120(6): e20230269, 2023. tab, graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1447291
5.
Int. j. cardiovasc. sci. (Impr.) ; 35(5): 578-584, Sept.-Oct. 2022.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1405200

RESUMO

Abstract Background Chronic Hepatitis C (CHC) therapy with direct-acting antivirals (DAAs) has high efficacy and safety, but some cases of bradyarrhythmias have been described. Objective To evaluate heart rhythm disorders during DAA treatments. Methods Forty-eight patients with CHC (mean 61 years of age; 56% males; 73% HCV genotype 1) were evaluated before and during treatment with DAAs, analyzed by a resting 12-lead ECG [PR, QRS, and QT corrected (QTc) intervals measured] and a 24-h-Holter system, to evaluate the heart rate (HR) and the occurrence of arrhythmias. The Student's t-test or the Wilcoxon-Mann-Whitney test for continuous, independent variables were performed with a statistically significant p-value < 0.05. Results The electrocardiographic parameters before and during treatment were: PR interval (147.2 ± 15.6 vs 144.9 ± 15.6 ms; p = 0.21), QTc interval (427 ± 22.3 vs 421.7 ± 25.3 ms; p = 0.24), minimum HR (52.7 ± 8.4 vs 53.2 ± 8.5 bpm; p = 0.49), median HR (74.2 ± 10.4 vs 75.2 ± 9 bpm; p = 0.83), and maximum HR (117.4 ± 16.8 vs 117.9 ± 16.3 bpm; p = 0.25). These parameters proved to be similar among 11 beta-blockers or 22 ribavirin users. During treatment, the 21 cirrhotic patients presented significantly lower median HRs (72.1 ± 9.0 vs 77.9 ± 8.2 bpm; p = 0.02) and maximum HRs (108.9 ± 15.2 vs. 125.1 ± 13.2 bpm, p < 0.0001) through a 24-h-Holter monitoring than the patients without cirrhosis. No clinically relevant arrhythmias were detected. Conclusion DAAs do not significantly influence heart rate or induce significant cardiac arrhythmias in patients with CHC.

8.
Rev. Assoc. Med. Bras. (1992, Impr.) ; 68(8): 1059-1063, Aug. 2022. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1406612

RESUMO

SUMMARY OBJECTIVE: This study aimed to evaluate the agreement in the indication of implantable cardioverter-defibrillators in patients with Hypertrophic cardiomyopathy, as per the 2014 European Society of Cardiology and 2020 American Heart Association recommendations, and evaluate fragmented QRS as a predictor of cardiovascular outcome. METHODS: Retrospective cohort with 81 patients was evaluated between 2019 and 2021. Patients with hypertrophic cardiomyopathy ≥16 years old were included. Exclusion criteria include secondary myocardiopathy and follow-up <1 year. Kappa coefficient was used to determine the agreement. Survival and incidence curves were determined by Kaplan-Meier method. A p<0.05 was considered significant. RESULTS: The fragmented QRS was identified in 44.4% of patients. There were no differences between patients with and without fragmented QRS regarding clinical parameters, echocardiography, fibrosis, and sudden cardiac death risk. During follow-up of 4.8±3.4 years, there was no sudden cardiac death, but 20.6% patients with implantable cardioverter-defibrillator had at least one appropriate shock. Three of the seven appropriate shocks occurred in European Society of Cardiology low- to moderate-risk patients. Three shocks occurred in moderate-risk patients and four in American Heart Association high-risk patients. Overall recommendations agreement was 64% with a kappa of 0.270 (p=0.007). C-statistic showed no differences regarding the incidence of appropriate shock (p=0.644). CONCLUSION: sudden cardiac death risk stratification algorithms present discrepancies in implantable cardioverter-defibrillator indication, both with low accuracy.

9.
Arq Bras Cardiol ; 118(6): 1049-1058, 2022.
Artigo em Inglês, Português | MEDLINE | ID: mdl-35703659

RESUMO

BACKGROUND: It is uncertain whether myocardial fluorodeoxyglucose uptake occurs solely due to physiological features or if it represents a metabolic disarrangement under chemotherapy. OBJECTIVE: To investigate the chemotherapy effects on the heart of patients with lymphoma by positron emission tomography associated with computed tomography scans (PET/CT) with 2-deoxy-2[18F] fluoro-D-glucose (18F-FDG PET/CT) before, during and/or after chemotherapy. METHODS: Seventy patients with lymphoma submitted to18F-FDG PET/CT were retrospectively analyzed. The level of significance was 5%.18F-FDG cardiac uptake was assessed by three measurements: left ventricular maximum standardized uptake value (SUVmax), heart to blood pool (aorta) ratio, and heart to liver ratio in all the exams. Body weight, fasting blood sugar, post-injection time, and the injected dose of18F-FDG between the scans were also compared. RESULTS: Mean age was 50.4 ± 20.1 years and 50% was female. The analysis was carried out in two groups: baseline vs. interim PET/CT, and baseline vs. post-therapy PET/CT. There was no significant difference in clinical variables or protocol scans variables. We observed an increase in left ventricular (LV) SUVmax from 3.5±1.9 (baseline) to 5.6±4.0 (interim), p=0.01, and from 4.0±2.2 (baseline) to 6.1±4.2 (post-therapy), p<0.001. A percentage increase ≥30% of LV SUVmax occurred in more than half of the sample. The rise of cardiac SUV was accompanied by an increase in LV SUVmax/Aorta SUVmax and LV SUVmean/Liver SUVmean ratios. CONCLUSION: This study showed a clear increase in cardiac18F-FDG uptake in patients with lymphoma during and/or after chemotherapy. The literature corroborates with these findings and suggests that18F-FDG PET/CT is a sensitive and reliable imaging exam to detect early metabolic signs of cardiotoxicity.


FUNDAMENTO: Ainda não está estabelecido se a captação de fluorodesoxiglicose no miocárdio ocorre exclusivamente por características fisiológicas ou se representa um desarranjo metabólico causado pela quimioterapia. OBJETIVO: Investigar os efeitos da quimioterapia no coração dos pacientes com linfoma por tomografia por emissão de pósitrons associada a tomografia computadorizada (PET/CT) com 2-[18F]-fluoro-2-desoxi-D-glicose (18F-FDG PET/CT) antes, durante e/ou após a quimioterapia. MÉTODOS: Setenta pacientes com linfoma submetidos a 18F-FDG PET/CT foram retrospectivamente analisados. O nível de significância foi de 5%. A captação de 18F-FDG foi avaliada por três medidas: captação máxima no ventrículo esquerdo ( standardized uptake value , SUV max), razão SUV cardíaco / aorta e SUV cardíaco / SUV no fígado. Também foram comparados peso corporal, glicemia de jejum, tempo pós-injeção e dose administrada de 18F-FDG entre os exames. RESULTADOS: A idade média foi de 50,4 ± 20,1 anos e 50% dos pacientes eram mulheres. A análise foi realizada em dois grupos ­ PET/CT basal vs. intermediário e PET/CT basal vs pós-terapia. Não houve diferença significativa entre as variáveis clínicas e do protocolo dos exames entre os diferentes momentos avaliados. Nós observamos um aumento na SUV máxima no ventrículo esquerdo de 3,5±1,9 (basal) para 5,6±4,0 (intermediário), p=0,01, e de 4,0±2,2 (basal) para 6,1±4,2 (pós-terapia), p<0,001. Uma porcentagem de aumento ≥30% na SUV máxima no ventrículo esquerdo ocorreu em mais da metade da amostra. O aumento da SUV cardíaca foi acompanhado por um aumento na razão SUV máxima no ventrículo esquerdo / SUV máxima na aorta e SUV média no ventrículo esquerdo /SUV média no fígado. CONCLUSÃO: O estudo mostrou um aumento evidente na captação cardíaca de 18F-FDG em pacientes com linfoma, durante e após quimioterapia. A literatura corrobora com esses achados e sugere que a 18F-FDG PET/CT pode ser um exame de imagem sensível e confiável para detectar sinais metabólicos precoces de cardiotoxicidade.


Assuntos
Antineoplásicos , Linfoma , Adulto , Idoso , Antineoplásicos/efeitos adversos , Cardiotoxicidade/diagnóstico por imagem , Cardiotoxicidade/etiologia , Feminino , Fluordesoxiglucose F18 , Humanos , Linfoma/diagnóstico por imagem , Linfoma/tratamento farmacológico , Pessoa de Meia-Idade , Tomografia por Emissão de Pósitrons combinada à Tomografia Computadorizada/métodos , Compostos Radiofarmacêuticos , Estudos Retrospectivos
10.
Arq. bras. cardiol ; 118(6): 1049-1058, Maio 2022. tab, graf
Artigo em Português | LILACS-Express | LILACS | ID: biblio-1383692

RESUMO

Resumo Fundamento Ainda não está estabelecido se a captação de fluorodesoxiglicose no miocárdio ocorre exclusivamente por características fisiológicas ou se representa um desarranjo metabólico causado pela quimioterapia. Objetivo Investigar os efeitos da quimioterapia no coração dos pacientes com linfoma por tomografia por emissão de pósitrons associada a tomografia computadorizada (PET/CT) com 2-[18F]-fluoro-2-desoxi-D-glicose (18F-FDG PET/CT) antes, durante e/ou após a quimioterapia. Métodos Setenta pacientes com linfoma submetidos a 18F-FDG PET/CT foram retrospectivamente analisados. O nível de significância foi de 5%. A captação de 18F-FDG foi avaliada por três medidas: captação máxima no ventrículo esquerdo ( standardized uptake value , SUV max), razão SUV cardíaco / aorta e SUV cardíaco / SUV no fígado. Também foram comparados peso corporal, glicemia de jejum, tempo pós-injeção e dose administrada de 18F-FDG entre os exames. Resultados A idade média foi de 50,4 ± 20,1 anos e 50% dos pacientes eram mulheres. A análise foi realizada em dois grupos - PET/CT basal vs. intermediário e PET/CT basal vs pós-terapia. Não houve diferença significativa entre as variáveis clínicas e do protocolo dos exames entre os diferentes momentos avaliados. Nós observamos um aumento na SUV máxima no ventrículo esquerdo de 3,5±1,9 (basal) para 5,6±4,0 (intermediário), p=0,01, e de 4,0±2,2 (basal) para 6,1±4,2 (pós-terapia), p<0,001. Uma porcentagem de aumento ≥30% na SUV máxima no ventrículo esquerdo ocorreu em mais da metade da amostra. O aumento da SUV cardíaca foi acompanhado por um aumento na razão SUV máxima no ventrículo esquerdo / SUV máxima na aorta e SUV média no ventrículo esquerdo /SUV média no fígado. Conclusão O estudo mostrou um aumento evidente na captação cardíaca de 18F-FDG em pacientes com linfoma, durante e após quimioterapia. A literatura corrobora com esses achados e sugere que a 18F-FDG PET/CT pode ser um exame de imagem sensível e confiável para detectar sinais metabólicos precoces de cardiotoxicidade.


Abstract Background It is uncertain whether myocardial fluorodeoxyglucose uptake occurs solely due to physiological features or if it represents a metabolic disarrangement under chemotherapy. Objective To investigate the chemotherapy effects on the heart of patients with lymphoma by positron emission tomography associated with computed tomography scans (PET/CT) with 2-deoxy-2[18F] fluoro-D-glucose (18F-FDG PET/CT) before, during and/or after chemotherapy. Methods Seventy patients with lymphoma submitted to18F-FDG PET/CT were retrospectively analyzed. The level of significance was 5%.18F-FDG cardiac uptake was assessed by three measurements: left ventricular maximum standardized uptake value (SUVmax), heart to blood pool (aorta) ratio, and heart to liver ratio in all the exams. Body weight, fasting blood sugar, post-injection time, and the injected dose of18F-FDG between the scans were also compared. Results Mean age was 50.4 ± 20.1 years and 50% was female. The analysis was carried out in two groups: baseline vs. interim PET/CT, and baseline vs. post-therapy PET/CT. There was no significant difference in clinical variables or protocol scans variables. We observed an increase in left ventricular (LV) SUVmax from 3.5±1.9 (baseline) to 5.6±4.0 (interim), p=0.01, and from 4.0±2.2 (baseline) to 6.1±4.2 (post-therapy), p<0.001. A percentage increase ≥30% of LV SUVmax occurred in more than half of the sample. The rise of cardiac SUV was accompanied by an increase in LV SUVmax/Aorta SUVmax and LV SUVmean/Liver SUVmean ratios. Conclusion This study showed a clear increase in cardiac18F-FDG uptake in patients with lymphoma during and/or after chemotherapy. The literature corroborates with these findings and suggests that18F-FDG PET/CT is a sensitive and reliable imaging exam to detect early metabolic signs of cardiotoxicity.

13.
J Bras Pneumol ; 45(6): e20180402, 2019.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31778424

RESUMO

OBJECTIVE: To examine the trends in overall COPD mortality, as well as trends in in-hospital morbidity and mortality due to COPD, in Brazil, and to validate predictive models. METHODS: This was a population-based study with a time-series analysis of cause-specific morbidity and mortality data for individuals ≥ 40 years of age, obtained from national health information systems for the 2000-2016 period. Morbidity and mortality rates, stratified by gender and age group, were calculated for the same period. We used regression analyses to examine the temporal trends and double exponential smoothing in our analysis of the predictive models for 2017. RESULTS: Over the study period, COPD mortality rates trended downward in Brazil. For both genders, there was a downward trend in the southern, southeastern, and central-western regions. In-hospital morbidity rates declined in all regions, more so in the south and southeast. There were significant changes in the number of hospitalizations, length of hospital stay, and hospital expenses. The predictive models for 2017 showed error rates below 9% and were therefore validated. CONCLUSIONS: In Brazil, COPD age-adjusted mortality rates have declined in regions with higher socioeconomic indices, where there has been an even sharper decrease in all in-hospital morbidity and mortality variables. In addition to factors such as better treatment adherence and reduced smoking rates, socioeconomic factors appear to be involved in controlling COPD morbidity and mortality. The predictive models estimated here might also facilitate decision making and the planning of health policies aimed at treating COPD.


Assuntos
Mortalidade Hospitalar/tendências , Doença Pulmonar Obstrutiva Crônica/mortalidade , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Brasil/epidemiologia , Feminino , Geografia , Humanos , Tempo de Internação/tendências , Masculino , Pessoa de Meia-Idade , Morbidade/tendências , Distribuição por Sexo , Fatores Socioeconômicos , Fatores de Tempo
14.
Arq Bras Cardiol ; 113(1): 77-84, 2019 07 10.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31291414

RESUMO

BACKGROUND: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. OBJECTIVE: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). METHODS: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. RESULTS: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. CONCLUSION: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.


Assuntos
Cardiomiopatia Hipertrófica/genética , Doença de Fabry/genética , Mutação/genética , alfa-Galactosidase/genética , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Cardiomiopatia Hipertrófica/etiologia , Criança , Estudos Transversais , Ecocardiografia , Doença de Fabry/complicações , Doença de Fabry/diagnóstico , Feminino , Testes Genéticos , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Adulto Jovem
15.
Arq. bras. cardiol ; 113(1): 77-84, July 2019. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1011241

RESUMO

Abstract Background: Fabry disease (FD) is an X-linked lysosomal storage disorder caused by mutations in the alpha galactosidase A gene (GLA) that lead to the enzymatic deficiency of alpha galactosidase (α-Gal A), resulting in the accumulation of globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3), causing multiple organ dysfunctions. Objective: To perform GLA gene screening in a group of patients with echocardiographic diagnosis of hypertrophic cardiomyopathy (HCM). Methods: a cross-sectional study was conducted with HCM patients from a university hospital. Patients with coronary artery disease and valvulopathies were excluded. Mutation analysis of the GLA gene was performed. In male subjects, the analysis was performed after evidence of low α-Gal A activity. Results: 60 patients with echocardiographic diagnosis of HCM were included. Age ranged from 12 to 85 years and 60% were women. Mean myocardial fibrosis percentage on MRI was 10.7 ± 13.1% and mean ventricular thickness was18.7 ± 6.7 mm. Four patients had the following GLA gene mutations: c.967C>A (p.Pro323Thr), not yet described in the literature; c.937G>T (p.Asp313Tyr); and c.352C>T (p.Arg118Cys). All patients had normal levels of lyso-Gb3 and non-ischemic myocardial fibrosis on magnetic resonance imaging; one patient had proteinuria and one patient had ventricular tachycardia. Conclusion: in this study, the frequency of mutation in the GLA gene in patients with HCM was 6.7%. A novel mutation in exon 6 of the GLA gene, c.967C>A (p.Pro323Thr), was identified. Patients with HCM may have GLA mutations and FD should be ruled out. Plasma (lyso-Gb3) levels do not seem to be sufficient to attain a diagnosis and organ biopsy should be considered.


Resumo Fundamento: A doença de Fabry (DF) é uma doença de armazenamento lisossômico ligada ao cromossomo X, devido a mutações no gene da alfa galactosidase A (GLA), levando a deficiência enzimática de alfa-galactosidase (α-Gal A) e acúmulo de globotriaosilceramida (Gb3) e globotriaosilsulfingosina (liso-Gb3), causando disfunção de múltiplos órgãos. Objetivo: realizar a triagem do gene GLA em um grupo de pacientes com diagnóstico ecocardiográfico de cardiomiopatia hipertrófica (CMH). Métodos: estudo transversal realizado com pacientes com CMH em um hospital universitário. Pacientes com doença arterial coronariana e valvopatias foram excluídos. Foi realizada análise de mutação do gene GLA. Em indivíduos do sexo masculino, a análise foi realizada após evidência de baixa atividade de α-Gal A. Resultados: Foram incluídos 60 pacientes com diagnostico ecocardiográfico de CMH. A idade variou de 12 a 85 anos e 60% eram mulheres. O percentual médio de fibrose miocárdica na RM foi 10,7 ± 13,1% e a espessura ventricular média foi 18,7 ± 6,7 mm. Quatro pacientes tinham as seguintes mutações do GLA: c.967C>A (p.Pro323Thr), ainda não descrita na literatura; c.937G>T (p.Asp313Tyr); e c.352C>T (p.Arg118Cys). Todos os pacientes apresentavam níveis normais de liso-Gb3 e fibrose miocárdica não isquêmica na ressonância magnética; um paciente apresentou proteinúria; um paciente apresentou taquicardia ventricular. Conclusão: Neste estudo, a frequência de mutação no gene GLA em pacientes com CMH foi 6,7%. Uma nova mutação no exon 6 do gene GLA, c.967C>A (p.Pro323Thr), foi identificada. Pacientes com CMH podem ter mutações do GLA e a DF deve ser excluída. Os níveis plasmáticos de (liso-Gb3) não parecem ser suficientes para fazer um diagnóstico e biópsia de órgãos deve ser considerada.


Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Adulto Jovem , Cardiomiopatia Hipertrófica/genética , alfa-Galactosidase/genética , Mutação/genética , Cardiomiopatia Hipertrófica/etiologia , Cardiomiopatia Hipertrófica/diagnóstico por imagem , Imageamento por Ressonância Magnética , Ecocardiografia , Testes Genéticos , Estudos Transversais , Doença de Fabry/complicações , Doença de Fabry/diagnóstico
16.
Int. j. cardiovasc. sci. (Impr.) ; 32(3): 283-289, May-June 2019.
Artigo em Inglês | LILACS | ID: biblio-1002223

RESUMO

Chronic hepatitis C (CHC) has a high prevalence in the world. In addition to hepatic complications with cirrhosis in about 20% of patients and high risk for hepatocarcinoma, extrahepatic manifestations may also occur. Cardiac involvement in patients with CHC is associated with several factors, such as increased risk for coronary artery disease, primary cardiomyopathies, or hemodynamic and electrophysiological changes observed in liver cirrhosis. Furthermore, antiviral treatment may, in rare cases, causes cardiovascular adverse effects. Cardiac arrhythmias are the main form of clinical presentation, and, often, markers of poor prognosis in individuals with advanced liver disease. Although some mechanisms that justify these changes have already been reported, many questions remain unanswered, especially about the true involvement of the hepatitis C virus in the genesis of primary cardiac abnormalities, and the risk factors for cardiac-related complications of antiviral treatment


Assuntos
Humanos , Masculino , Feminino , Hepatite C Crônica , Cardiomiopatias/fisiopatologia , Antivirais/efeitos adversos , Antivirais/uso terapêutico , Arritmias Cardíacas , Ribavirina/efeitos adversos , Doença da Artéria Coronariana , Interferons/efeitos adversos , Interferons/uso terapêutico , Interações Medicamentosas , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/terapia , Cirrose Hepática
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