Progression of valve heart disease in a cohort of patients undergoing renal replacement therapy / Progressão da doença cardíaca valvar em coorte de doentes em terapia renal substitutiva

Abstract Introduction: Cardiovascular disease is an important cause of death among patients with chronic kidney disease (CKD). Valve calcification is a predictor of cardiovascular mortality and coronary artery disease. Objective: To assess heart valve disease frequency, associated factors, and progression in CKD patients. Methods: We conducted a retrospective study on 291 CKD patients at Hospital das Clínicas de Pernambuco. Inclusion criteria were age ≥ 18 with CKD and valve disease, while those on conservative management or with missing data were excluded. Clinical and laboratory variables were compared, and patients were categorized by dialysis duration (<5 years; 5-10 years; >10 years). Statistical tests, including chi-square, Fisher's exact, ANOVA, and Kruskal-Wallis, were employed as needed. Simple and multivariate binary regression models were used to analyze valve disease associations with dialysis duration. Significance was defined as p < 0.05. Results: Mitral valve disease was present in 82.5% (240) of patients, followed by aortic valve disease (65.6%; 86). Over time, 106 (36.4%) patients developed valve disease. No significant association was found between aortic, pulmonary, mitral, or tricuspid valve disease and dialysis duration. Secondary hyperparathyroidism was the sole statistically significant factor for mitral valve disease in the regression model (OR 2.59 [95% CI: 1.09-6.18]; p = 0.031). Conclusion: CKD patients on renal replacement therapy exhibit a high frequency of valve disease, particularly mitral and aortic valve disease. However, no link was established between dialysis duration and valve disease occurrence or progression.

Resumo Introdução: Doenças cardiovasculares são uma causa significativa de morte em pacientes com Doença Renal Crônica (DRC). A calcificação valvar é preditor de mortalidade cardiovascular e doença arterial coronariana. Objetivo: Avaliar a frequência, fatores associados e progressão de valvopatias em pacientes com DRC. Métodos: Coorte retrospectiva com 291 pacientes ambulatoriais no Hospital das Clínicas de Pernambuco. Inclusão: ≥18 anos com DRC e valvopatia; exclusão: tratamento conservador ou dados incompletos. Variáveis clínicas e laboratoriais foram comparadas e categorizadas por tempo de terapia dialítica (TTD): <5 anos, 5-10 anos, >10 anos. Foram aplicados os testes Qui-quadrado, exato de Fisher, ANOVA, Kruskal-Wallis. Associação entre valvopatia e TTD foi avaliada por regressão binária. Significância foi definida como p < 0,05. Resultados: A valvopatia mitral foi encontrada em 82,5% (240) dos casos, seguida da aórtica (65,6%; 86). Houve progressão da doença valvar em 106 (36,4%) pacientes. Não houve associação entre valvopatias aórtica, pulmonar, mitral ou tricúspide e TTD. Hiperparatireoidismo secundário foi a única variável explicativa significativa na regressão para valvopatia mitral (OR 2,59 [IC95%: 1,09-6,18]; p = 0,031). Conclusão: Encontramos alta frequência de valvopatias, especialmente mitral e aórtica, aem pacientes com DRC. Não houve associação entre TTD e valvopatia.

Progression of valve heart disease in a cohort of patients undergoing renal replacement therapy.

INTRODUCTION: Cardiovascular disease is an important cause of death among patients with chronic kidney disease (CKD). Valve calcification is a predictor of cardiovascular mortality and coronary artery disease. OBJECTIVE: To assess heart valve disease frequency, associated factors, and progression in CKD patients. METHODS: We conducted a retrospective study on 291 CKD patients at Hospital das Clínicas de Pernambuco. Inclusion criteria were age ≥ 18 with CKD and valve disease, while those on conservative management or with missing data were excluded. Clinical and laboratory variables were compared, and patients were categorized by dialysis duration (<5 years; 5-10 years; >10 years). Statistical tests, including chi-square, Fisher's exact, ANOVA, and Kruskal-Wallis, were employed as needed. Simple and multivariate binary regression models were used to analyze valve disease associations with dialysis duration. Significance was defined as p < 0.05. RESULTS: Mitral valve disease was present in 82.5% (240) of patients, followed by aortic valve disease (65.6%; 86). Over time, 106 (36.4%) patients developed valve disease. No significant association was found between aortic, pulmonary, mitral, or tricuspid valve disease and dialysis duration. Secondary hyperparathyroidism was the sole statistically significant factor for mitral valve disease in the regression model (OR 2.59 [95% CI: 1.09-6.18]; p = 0.031). CONCLUSION: CKD patients on renal replacement therapy exhibit a high frequency of valve disease, particularly mitral and aortic valve disease. However, no link was established between dialysis duration and valve disease occurrence or progression.

Association between hyperuricemia and hypertension: a case-control study.

OBJECTIVE: The aim of this study was to evaluate the association between hyperuricemia and systemic arterial hypertension. METHODS: This was a case-control study where individuals aged >18 years were included, who were divided into hypertensive and non-hypertensive groups, excluding those with incomplete information in medical records or with the chronic kidney disease epidemiology collaboration <60 mL/min/1.73 m³. Systemic arterial hypertension was categorized as a dependent variable, while the independent variables were hyperuricemia (i.e., primary variable), sex, education, the practice of physical activity, alcoholism, smoking, diabetes mellitus, chronic kidney disease, a family history of systemic arterial hypertension, age, isolated hyperlipidemia, and mixed hyperlipidemia. Statistical analysis included the univariate and multivariate data analysis, performed by adjusting the logistic regression models using the software R (R Core Team [2018]). RESULTS: Out of 103 patients evaluated, 75 patients were included in this study. In hypertensive patients, hyperuricemia was more frequent (p=0.029), being present in 18.9% individuals. In the univariate analysis, a statistically significant association was found between hyperuricemia and systemic arterial hypertension (OR 10.9; 95%CI 1.29-1420.0; p=0.023); however, in the multivariate analysis, when adjustment was made for age, the only control variable that persisted in the model, this association ceased to be significant (OR 8.5; 95%CI 0.87-1157.0; p=0.070). CONCLUSIONS: There was no independent association between hyperuricemia and systemic arterial hypertension. The latter was associated with diabetes mellitus, chronic kidney disease, and age.

Association between hyperuricemia and hypertension: a case-control study

SUMMARY OBJECTIVE: The aim of this study was to evaluate the association between hyperuricemia and systemic arterial hypertension. METHODS: This was a case-control study where individuals aged >18 years were included, who were divided into hypertensive and non-hypertensive groups, excluding those with incomplete information in medical records or with the chronic kidney disease epidemiology collaboration <60 mL/min/1.73 m³. Systemic arterial hypertension was categorized as a dependent variable, while the independent variables were hyperuricemia (i.e., primary variable), sex, education, the practice of physical activity, alcoholism, smoking, diabetes mellitus, chronic kidney disease, a family history of systemic arterial hypertension, age, isolated hyperlipidemia, and mixed hyperlipidemia. Statistical analysis included the univariate and multivariate data analysis, performed by adjusting the logistic regression models using the software R (R Core Team [2018]). RESULTS: Out of 103 patients evaluated, 75 patients were included in this study. In hypertensive patients, hyperuricemia was more frequent (p=0.029), being present in 18.9% individuals. In the univariate analysis, a statistically significant association was found between hyperuricemia and systemic arterial hypertension (OR 10.9; 95%CI 1.29-1420.0; p=0.023); however, in the multivariate analysis, when adjustment was made for age, the only control variable that persisted in the model, this association ceased to be significant (OR 8.5; 95%CI 0.87-1157.0; p=0.070). CONCLUSIONS: There was no independent association between hyperuricemia and systemic arterial hypertension. The latter was associated with diabetes mellitus, chronic kidney disease, and age.

Relato de experiência de grupo de pesquisa em epidemiologia e cardiologia / Experience report from an epidemiology and cardiology research group

RESUMO: A formação de grupos acadêmicos durante o curso de medicina é importante para a construção e compartilhamento de conhecimentos e habilidades fundamentais para a prática médica. O presente trabalho relata a experiência de um ano de atividades (2017-2018) de um grupo de pesquisa em epidemiologia e cardiologia. Apresentamos os principais pontos de motivação, objetivos e funcionamento do grupo, no intuito de fornecer um modelo estrutural que possa servir de inspiração e debate para a formação de outros grupos de pesquisa constituídos por estudantes de medicina ao redor do país. Ao longo de um ano foram apresentados em eventos científicos os resultados das pesquisas do grupo, além da publicação de artigos em periódicos científicos na área da saúde, totalizando 12 trabalhos acadêmicos. Como meio de fornecer uma ferramenta de avaliação quantitativa de análise das atividades do grupo, foram apresentados os resultados da autoavaliação desenvolvida pelos membros acadêmicos após um ano de atividades. Considerando o elevado número de publicações biomédicas e o aumento na exigência de conhecimentos em pesquisa e medicina baseada em evidências nos últimos anos, a formação de grupos de pesquisa apresenta-se como uma alternativa para complementação de conhecimentos teóricos e práticos para a formação médica, permitindo aos futuros profissionais uma visão crítica da produção do conhecimento científico, uma prática médica baseada em evidências, um melhor enfretamento das exigências de mercado e dos interesses econômicos na área de saúde. (AU)

ABSTRACT: The establishment of academic groups during medical school is important for the construction and sharing of knowledge and fundamental skills to good medical practice. This paper reports a one-year experience of activities (2017-2018) of a research group in epidemiology and cardiology. The presentation of the motivation reasons, objectives, and performance of the group to provide a structural model that could serve as inspiration and debate for the establishment of other research groups made up from and for medical students from all over the world. During one year of activity, the findings of the group research were presented in scientific events, as well as the publication of articles in scientific journals in field of health sciences, totaling 12 academic papers. As a means of providing a quantitative evaluation tool for the analysis of the group's activities, the results of the self-assessment developed by the academic members after one year of activities were presented. Considering the high number of biomedical publications and the increase in the demand for knowledge in research and evidence-based medicine in recent years, the establishment of research groups is an alternative to complement theoretical and practical knowledge for medical education, allowing to future professionals a critical view of the production of scientific knowledge, evidence-based medical practice, a better understanding of market demands, and economic interests in health. (AU)

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease?

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.

GLA Gene Mutation in Hypertrophic Cardiomyopathy with a New Variant Description: Is it Fabry's Disease? / Mutação do Gene GLA na Cardiomiopatia Hipertrófica com Descrição de Nova Variante: É Doença de Fabry?

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.

Long-Term Traumatic and Asymptomatic Aorto-Right Atrial Fistula.

Aorto-atrial fistulas due to cardiac trauma are rare, and survivors require immediate surgical correction. Here, we report a case of an aorto-right atrial fistula due to penetrating trauma after a 16-year evolution, which developed symptoms of acute coronary syndrome and was treated with myocardial revascularization and correction of the aorto-cameral fistula.

Long-term traumatic and asymptomatic aorto-right atrial fistula

Abstract Aorto-atrial fistulas due to cardiac trauma are rare, and survivors require immediate surgical correction. Here, we report a case of an aorto-right atrial fistula due to penetrating trauma after a 16-year evolution, which developed symptoms of acute coronary syndrome and was treated with myocardial revascularization and correction of the aorto-cameral fistula.

Indicação de revascularização miocárdica em pacientes dialíticos / Indication myocardial revascularization in dialysis patients

Fundamentos: Pacientes dialíticos apresentam alto risco aterosclerótico, sendo previsto aumento nas indicações de revascularização miocárdica (RM) nesse grupo.Objetivos: Avaliar características clínicas, laboratoriais, ecoDopplercardiográficas e cineangiocoronariográficas de pacientes dialíticos e do subgrupo com indicação de RM.Métodos: Foram analisados 94 pacientes dialíticos submetidos à cineangiocoronariografia, estratificados em dois grupos: com e sem doença coronariana (DAC). Resultados: 94 pacientes, 57,4 % homens, média de idade 53,9±10,1 anos, 95,7 % hemodialíticos, mediana do tempo diálise 60,0 meses. Ao ecoDopplercardiograma a fração de ejeção média foi 61,07±12,06 % (n=84); função diastólica normal em 16,9 %, tipo I em 63,9 %, tipo II em 12,0 % e tipo III em 7,2 %. A população estudada foi estratificada em dois grupos: com DAC (n=47) e sem DAC (n=47). No grupo com DAC, 27,7 % eram triarteriais, 12,8 % uniarteriais e 9,6 % biarteriais, sendo mais frequente: DAC prévia (17,0 % vs. 2,1 %; p=0,003), calcificação parietal à cineangiocoronariografia (76,6 % vs. 10,6 %; p<0,001) e uso prévio de betabloqueadores (55,3 % vs. 27,7 %; p=0,007). Nos pacientes não diabéticos, aqueles com disfunção diastólica tiveram quatro vezes mais chance de coronariopatia (OR 4,26 IC 1,03-23,55; p=0,048). Houve elevada indicação de RM nos coronariopatas (61,7 %), com indicação cirúrgica em 51,7 % dos revascularizáveis. Conclusões: DAC prévia, calcificação parietal na cineangiocoronariografia e uso prévio de betabloqueadores foram mais frequentes nos coronariopatas. Disfunção diastólica ao ecoDopplercardiograma foi o único preditor independente para DAC em pacientes dialíticos. Indicação de RM foi elevada nos coronariopatas.

Background: Dialysis patients are at high risk for atherosclerosis, with increased indications for myocardial revascularization (MR) in this group. Objectives: To assess clinical, laboratory, echoDoppercardiographic and coronary angiography parameters among dialysis patients and in a subgroup with MR indications. Methods: 94 dialysis patients undergoing coronary angiography were analyzed and divided into two groups: with and without coronary artery disease (CAD). Results: 94 patients; 57.4% men, mean age 53.9±10.1 years, 95.7% on hemodialysis, median dialysis time of 60.0 months. Mean ejection fraction in echocardiography: 61.07±12.06% (n=84), normal diastolic function in 16.9%, type I diastolic dysfunction in 63.9%, type II in 12.0% and type III in 7.2%. The population was divided into two groups: with CAD (n = 47) and without CAD (n = 47). In the CAD group, 27.7% had three-vessel, 12.8% one-vessel and 9.6% two-vessel disease, with prior CAD (17.0% vs. 2.1%; p=0.003), parietal calcification in coronary angiography (76.6% vs. 10.6%; p<0.001), with prior use of beta-blockers (55.3% vs. 27.7%; p=0.007) being more frequent in the CAD group. Among non-diabetic patients, those with diastolic dysfunction were four times more likely to have CAD (OR 4.26 CI 1.03–23.55; p=0.048). There was a high level (61.7%) of MR indications among CAD patients, with surgery indicated for 51.7% of those suitable for revascularization. Conclusions: Prior CAD, parietal calcification in coronary angiography and prior use of beta-blockers were more frequent in the CAD group. Diastolic dysfunction in the echoDopplercardiograms was the only independent CAD predictor among dialysis patients, with MR indications high for coronary heart disease patients.