Joselina Luzia Menezes Oliveira

Sumário […] Diretriz sobre Ecocardiografia de Estresse – 2026 Sumário […] Diretriz sobre Ecocardiografia de Estresse – 2026

Table of contents […] Guideline on Stress Echocardiography – 2026 Table of contents […] Guideline on Stress Echocardiography – 2026

Background: Hypertrophic cardiomyopathy (HCM) is a genetic cardiac disorder characterized by left ventricular hypertrophy in the absence of secondary causes. This study aimed to investigate the genetic, clinical, and epidemiological profile of individuals with clinical HCM or a family history of sudden cardiac death (SCD). Methods: A total of 200 participants (58% male, median age 52 years) underwent genetic testing using a 19-gene panel associated with HCM and phenocopies. Variants were classified as pathogenic/likely pathogenic (P/LP), variants of uncertain significance (VUS), or negative. Clinical and imaging data were correlated with genetic findings. Results: P/LP variants were identified in 31% of individuals, while 40.5% carried VUS, and 28.5% tested negative. A positive genotype was more frequent among patients with clinical HCM (37.7%) than among those with only a family history (18.6%, p = 0.006). Sarcomeric mutations represented 77.4% of positive results, while 22.6% involved phenocopy genes, notably TTR (amyloidosis). Positive genotypes were significantly associated with a family history of SCD (68% vs. 46%, p = 0.004) and with greater interventricular septal thickness (17 mm vs. 15 mm, p < 0.001). Conclusions: Septal thickness >17 mm and family history of SCD were strong predictors of positive genetic results. These findings emphasize the importance of genetic screening and counseling in high-risk individuals and highlight the value of integrating genetic testing into clinical practice for diagnosis, risk stratification, and family management.

Background Hypertrophic Cardiomyopathy (HCM) is a genetic cardiac disorder characterized by left ventricular hypertrophy without secondary causes. Diagnosis relies on imaging techniques, such as echocardiography or cardiac magnetic resonance imaging (MRI), which show a maximal end-diastolic wall thickness ≥15 mm in adults. Wall thicknesses of 13– 14 mm may also support the diagnosis in individuals with a family history of HCM or sudden cardiac death (SCD), factors that strongly predict positive genetic test results and guide genetic testing decisions. However, current guidelines advise against routine genetic testing in phenotype-negative relatives unless there is a confirmed genetic diagnosis in the proband or testing is directed by a cardiovascular genetics expert. This study analyzes the genetic, clinical, and epidemiological profiles of individuals with HCM (positive phenotype) or asymptomatic patients with a family history of SCD or unconfirmed HCM. Methods We analyzed HCM patients, as defined by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guideline, and asymptomatic individuals with a family history of SCD or unconfirmed HCM, performing genetic testing with a 19-gene panel to assess pathogenic mutations and implications for family screening and management. Subjects with HCM, as defined by the 2024 AHA/ACC/AMSSM/HRS/PACES/SCMR guidelines, or those with a negative phenotype but a positive family history of sudden cardiac death (SCD) or unconfirmed HCM, underwent genetic testing using a 19-gene panel associated with HCM and its phenocopies. Results Among 200 participants (58% male, median age 52 years), pathogenic/probably pathogenic variants were identified in 62 (31% – [95% CI: 24.7 to 37.9]), classified as “positive genotype,” 81 (40.5%) had variants of uncertain significance (VUS), and 57 (28.5%) had negative results. Of the total, 130 (65%) met ACC/AHA clinical criteria for HCM, while 70 (35%) had only a family history of SCD or unconfirmed HCM. Positive genotype rates were 37.7% in HCM-diagnosed individuals and 18.6% in those with a negative phenotype but positive family history (p = 0.006). Among positive genotypes, 77.4% involved sarcomeric genes (primarily MYH7 and MYBPC3, 79.2%), and 22.6% involved phenocopy-related genes, predominantly TTR (92.9%), linked to cardiac amyloidosis. Family history of SCD was more frequent in positive genotypes (68%) than negative genotypes (46%, p = 0.004). Median interventricular septal thickness was 17 mm in positive genotypes and 15 mm in negative genotypes (p < 0.001). Conclusion/Discussion The frequency of pathogenic variants in sarcomeric genes aligns with existing literature, but TTR-related cardiac amyloidosis was notably higher, suggesting greater prevalence in this population. Interventricular septal thickness >17 mm and a family history of SCD were strong predictors of positive genetic tests. While genetic testing should be guided by family screening and counseling, a family history of SCD or unconfirmed HCM may justify testing, especially when a pathogenic variant is identified in a family member.

Hypertrophic cardiomyopathy (HCM) is a relatively prevalent disease, primarily of a genetic etiology, affecting both sexes and characterized by left ventricular hypertrophy. However, limitations within healthcare systems, socioracial factors, and the issue of underdiagnosis hinder accurate mortality assessments in our region. This study, therefore, aimed to assess the mortality trends associated with HCM in Brazil from 2010 to 2020, with a focus on socioracial factors and healthcare disparities. This ecological, time-series study employed a quantitative approach based on secondary data from the Mortality System (SIM) developed by the Brazilian Ministry of Health. Mortality incidence and trend analyses were conducted using the average annual percent change (AAPC) and the annual percent change (APC). The results indicated a predominance of HCM-related deaths among white males aged 40 years and older. Additionally, an increasing trend in HCM-related mortality was observed among white and brown males and females aged 40 years and above from 2010 to 2018. Throughout the entire period covered in the study, the incidence of deaths due to HCM increased by 18.3% and 69.8% in the northeastern and southeastern regions. The findings suggest that health system managers should consider addressing the factors influencing HCM mortality and encourage the development and implementation of clinical protocols across healthcare institutions nationwide. Such protocols are recommended to facilitate early diagnosis and establish effective treatment strategies, ultimately aiming to improve the survival rates and quality of life for individuals affected by HCM.

Resumo Fundamento A associação entre resposta exagerada da pressão arterial sistólica ao exercício (REPASE) e isquemia miocárdica é controversa e pouco estudada em indivíduos com síndrome coronariana crônica estabelecida ou suspeita. Objetivo Verificar a relação entre isquemia miocárdica e REPASE em indivíduos submetidos à ecocardiografia sob estresse físico (EEF). Métodos Trata-se de estudo transversal com 14.367 indivíduos submetidos à EEF, de janeiro de 2000 a janeiro de 2022, divididos em dois grupos: G1 – composto por pacientes cuja pressão sistólica [...] Resumo Fundamento A associação entre resposta exagerada da pressão arterial sistólica ao exercício (REPASE) e isquemia miocárdica é controversa e pouco estudada em indivíduos com síndrome coronariana crônica estabelecida ou suspeita. Objetivo Verificar a relação entre isquemia miocárdica e REPASE em indivíduos submetidos à ecocardiografia sob estresse físico (EEF). Métodos Trata-se de estudo transversal com 14.367 indivíduos submetidos à EEF, de janeiro de 2000 a janeiro de 2022, divididos em dois grupos: G1 – composto por pacientes cuja pressão sistólica

Background: Religiosity and Spirituality (R/S), despite being different entities, are multidimensional constructs, whose influence on cardiovascular health has been increasingly studied in recent decades. Objectives: To discriminate patients into subgroups according to R/S levels, in order to compare them regarding the distribution of cardiovascular comorbidities and clinical events. Methods: This is an observational, cross-sectional, analytical study. Two R/S scales were applied to a sample of patients seen at cardiology outpatient clinics. A cluster analysis was used to discriminate individuals [...] Abstract Background: Religiosity and Spirituality (R/S), despite being different entities, are multidimensional constructs, whose influence on cardiovascular health has been increasingly studied in recent decades. Objectives: To discriminate patients into subgroups according to R/S levels, in order to compare them regarding the distribution of cardiovascular comorbidities and clinical events. Methods: This is an observational, cross-sectional, analytical study. Two R/S scales were applied to a sample of patients seen at cardiology outpatient clinics. A cluster analysis was used to discriminate individuals

Background: It is estimated that more than 30% of the Brazilian population has systemic arterial hypertension (SAH), and mostly as an uncontrolled disease. The most recent Brazilian Guideline of Hypertension recommends the practice of self-measurement of blood pressure (BP) as one of the strategies for a better control of SAH, but there is no consensus about the efficiency of this tool. Objective: To assess the control of SAH and the practice of non-targeted self-measured BP (SMBP) among hypertensive users [...] Abstract Background: It is estimated that more than 30% of the Brazilian population has systemic arterial hypertension (SAH), and mostly as an uncontrolled disease. The most recent Brazilian Guideline of Hypertension recommends the practice of self-measurement of blood pressure (BP) as one of the strategies for a better control of SAH, but there is no consensus about the efficiency of this tool. Objective: To assess the control of SAH and the practice of non-targeted self-measured BP (SMBP) among hypertensive users

Background: Chronic obstructive pulmonary disease (COPD) worsens prognosis in patients with coronary artery disease (CAD). However, the cardiovascular prognosis in patients with stable or mildly symptomatic COPD remains unclear. Here, we sought to determine the long-term cardiovascular events in patients with subclinical or early-stage COPD with concomitant CAD. Methods: This was a longitudinal analytical study involving 117 patients with suspected or established CAD who underwent assessment of pulmonary function by spirometry and who were followed up for six years (March 2015–January 2021). The patients were divided into two groups, one comprising COPD (n=44) and the other non-COPD (n=73) patients. Cox regression was used to evaluate the association between COPD and cardiovascular events, with adjustment for the established CAD risk factors, and the effect size was measured by the Cohen test. Results: COPD patients were older (p=0.028), had a greater frequency of diabetes (p=0.026), were more likely to be smokers (p< 0.001), and had higher modified Medical Research Council scores (p< 0.001). There was no difference between the groups regarding gender, body mass index, hypertension, dyslipidemia, family history of CAD, and type of angina. CAD frequency and the proportion of patients with severe and multivessel CAD were significantly higher among COPD than among non-COPD patients (all p< 0.001). At six-year follow-up, patients with COPD were more likely to have experienced adverse cardiovascular events than those without COPD (p< 0.001; effect size, 0.720). After adjusting for established CAD risk factors, COPD occurrence remained an independent predictor for long-term adverse cardiovascular events (OR: 5.13; 95% CI: 2.29– 11.50; p< 0.0001). Conclusion: COPD was associated with increased severity of coronary lesions and a greater number of adverse cardiovascular events in patients with suspected or confirmed CAD. COPD remained a predictor of long-term cardiovascular events in stable patients with subclinical or early-stage of COPD, independently of the established CAD risk factors.

Lista de Siglas/Abreviaturas 18 F-FDG – fluordesoxiglicose marcado com flúor-18 123 I-MIBG – meta-iodo-benzil-guanidina marcado com iodo-123 […] Diretriz da SBC sobre Diagnóstico e Tratamento de Pacientes com Cardiomiopatia da Doença de Chagas – 2023 Lista de Siglas/Abreviaturas 18 F-FDG – fluordesoxiglicose marcado com flúor-18 123 I-MIBG – meta-iodo-benzil-guanidina marcado com iodo-123 […] Diretriz da SBC sobre Diagnóstico e Tratamento de Pacientes com Cardiomiopatia da Doença de Chagas – 2023