Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome. / Achados Ecocardiográficos em Crianças de Pacientes com Diagnóstico de Síndrome do PRKAG2.

BACKGROUND: PRKAG2 syndrome typically manifests in adolescence and early adulthood, progressing with left ventricular hypertrophy, arrhythmias, and risk of sudden death. Findings of echocardiographic markers before clinical manifestation in children of patients affected by the disease can facilitate prevention strategies and therapeutic planning for this patient group. OBJECTIVE: To identify the existence of echocardiographic findings that manifest early in children of parents affected by PRKAG2 syndrome, while they are still asymptomatic. METHODS: In this cross-sectional observational study, 7 participants who were children of parents with established diagnosis of PRKAG2 syndrome, between the ages of 9 months and 12 years, with proven genetic diagnosis, underwent conventional and advanced echocardiography. Their findings were compared to those of a control group composed of 7 age- and sex-matched volunteers who were healthy from a cardiovascular point of view. P values < 0.05 were considered significant. RESULTS: Conventional echocardiography showed statistically significantly higher values in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness (p < 0.05). Global longitudinal systolic strain on 2-dimensional echocardiography did not show statistical significance between the case and control groups. None of the parameters on 3-dimensional echocardiography showed statistical significance between groups. CONCLUSION: Children diagnosed with PRKAG2 showed echocardiographic findings indicative of a tendency toward cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of this patient group before the onset of clinical manifestations.

FUNDAMENTO: A síndrome do PRKAG2 tipicamente se manifesta na adolescência e início da idade adulta, cursando com hipertrofia ventricular esquerda, arritmias e risco de morte súbita. O achado de marcadores ecocardiográficos antes da manifestação clínica nos filhos de pais acometidos pela doença pode facilitar a estratégia de prevenção e planejamento terapêutico para esse grupo de pacientes. OBJETIVO: Identificar a existência de achados ecocardiográficos que se manifestem precocemente nos filhos de pais acometidos por síndrome do PRKAG2, enquanto ainda assintomáticos. MÉTODOS: Estudo observacional transversal em que sete participantes, filhos de pais com diagnóstico estabelecido de síndrome do PRKAG2, com idades entre 9 meses e 12 anos e diagnóstico genético comprovado, foram submetidos à ecocardiografia convencional e por técnicas avançadas, tendo seus achados comparados aos de grupo controle composto por sete voluntários pareados por sexo e idade, hígidos do ponto de vista cardiovascular. Um valor de p < 0,05 foi considerado significante. RESULTADOS: A ecocardiografia convencional mostrou valores aumentados com significância estatística no grupo caso para átrio esquerdo, septo interventricular, parede posterior do ventrículo esquerdo, massa ventricular indexada e espessura relativa da parede (p < 0,05). O strain sistólico longitudinal global obtido pelo ecocardiograma bidimensional não mostrou diferença estatisticamente significativa entre os grupos caso e controle. Nenhum dos parâmetros ao ecocardiograma tridimensional apresentou significância estatística entre os grupos. CONCLUSÃO: Crianças diagnosticadas com PRKAG2 demonstraram achados ecocardiográficos indicativos de tendência à hipertrofia cardíaca. A ecocardiografia pode ser uma ferramenta útil na avaliação e seguimento desse grupo de pacientes, antes do início de manifestações clínicas.

Aortic pulse wave analysis and functional capacity of heart transplantation candidates: a pilot study.

We compared cardiovascular parameters obtained with the Mobil-O-Graph and functional capacity assessed by the Duke Activity Status Index (DASI) before and after Heart Transplantation (HT) and also compared the cardiovascular parameters and the functional capacity of candidates for HT with a control group. Peripheral and central vascular pressures increased after surgery. Similar results were observed in cardiac output and pulse wave velocity. The significant increase in left ventricular ejection fraction (LVEF) postoperatively was not followed by an increase in the functional capacity. 24 candidates for HT and 24 controls were also compared. Functional capacity was significantly lower in the HT candidates compared to controls. Stroke volume, systolic, diastolic, and pulse pressure measured peripherally and centrally were lower in the HT candidates when compared to controls. Despite the significant increase in peripheral and central blood pressures after surgery, the patients were normotensive. The 143.85% increase in LVEF in the postoperative period was not able to positively affect functional capacity. Furthermore, the lower values of LVEF, systolic volume, central and peripheral arterial pressures in the candidates for HT are consistent with the characteristics signs of advanced heart failure, negatively impacting functional capacity, as observed by the lower DASI score.

Multinational experience with next-generation sequencing: opportunity to identify transthyretin cardiac amyloidosis and Fabry disease.

Background: Sarcomeric hypertrophic cardiomyopathy (HCM) must be differentiated from phenotypically similar conditions because clinical management and prognosis may greatly differ. Patients with unexplained left ventricular hypertrophy require an early, confirmed genetic diagnosis through diagnostic or predictive genetic testing. We tested the feasibility and practicality of the application of a 17-gene next-generation sequencing (NGS) panel to detect the most common genetic causes of HCM and HCM phenocopies, including treatable phenocopies, and report detection rates. Identification of transthyretin cardiac amyloidosis (ATTR-CA) and Fabry disease (FD) is essential because of the availability of disease-specific therapy. Early initiation of these treatments may lead to better clinical outcomes. Methods: In this international, multicenter, cross-sectional pilot study, peripheral dried blood spot samples from patients of cardiology clinics with an unexplained increased left ventricular wall thickness (LVWT) of ≥13 mm in one or more left ventricular myocardial segments (measured by imaging methods) were analyzed at a central laboratory. NGS included the detection of known splice regions and flanking regions of 17 genes using the Illumina NextSeq 500 and NovaSeq 6000 sequencing systems. Results: Samples for NGS screening were collected between May 2019 and October 2020 at cardiology clinics in Colombia, Brazil, Mexico, Turkey, Israel, and Saudi Arabia. Out of 535 samples, 128 (23.9%) samples tested positive for pathogenic/likely pathogenic genetic variants associated with HCM or HCM phenocopies with double pathogenic/likely pathogenic variants detected in four samples. Among the 132 (24.7%) detected variants, 115 (21.5%) variants were associated with HCM and 17 (3.2%) variants with HCM phenocopies. Variants in MYH7 (n=60, 11.2%) and MYBPC3 (n=41, 7.7%) were the most common HCM variants. The HCM phenocopy variants included variants in the TTR (n=7, 1.3%) and GLA (n=2, 0.4%) genes. The mean (standard deviation) ages of patients with HCM or HCM phenocopy variants, including TTR and GLA variants, were 42.8 (17.9), 54.6 (17.0), and 69.0 (1.4) years, respectively. Conclusions: The overall diagnostic yield of 24.7% indicates that the screening strategy effectively identified the most common forms of HCM and HCM phenocopies among geographically dispersed patients. The results underscore the importance of including ATTR-CA (TTR variants) and FD (GLA variants), which are treatable disorders, in the differential diagnosis of patients with increased LVWT of unknown etiology.

Position Statement on the Use of Myocardial Strain in Cardiology Routines by the Brazilian Society of Cardiology's Department Of Cardiovascular Imaging - 2023. / Posicionamento do Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiologia sobre o Uso do Strain Miocárdico na Rotina do Cardiologista ­ 2023.

Central Illustration : Position Statement on the Use of Myocardial Strain in Cardiology Routines by the Brazilian Society of Cardiology's Department Of Cardiovascular Imaging - 2023 Proposal for including strain in the integrated diastolic function assessment algorithm, adapted from Nagueh et al.67 Am: mitral A-wave duration; Ap: reverse pulmonary A-wave duration; DD: diastolic dysfunction; LA: left atrium; LASr: LA strain reserve; LVGLS: left ventricular global longitudinal strain; TI: tricuspid insufficiency. Confirm concentric remodeling with LVGLS. In LVEF, mitral E wave deceleration time < 160 ms and pulmonary S-wave < D-wave are also parameters of increased filling pressure. This algorithm does not apply to patients with atrial fibrillation (AF), mitral annulus calcification, > mild mitral valve disease, left bundle branch block, paced rhythm, prosthetic valves, or severe primary pulmonary hypertension.

Figura Central : Posicionamento do Departamento de Imagem Cardiovascular da Sociedade Brasileira de Cardiologia sobre o Uso do Strain Miocárdico na Rotina do Cardiologista ­ 2023 Proposta de inclusão do strain no algoritmo integrado de avaliação da função diastólica, adaptado e traduzido de Nagueh et al. 67 AE: átrio esquerdo; Ap: duração da onda A reversa pulmonar; Am: duração da onda A mitral; DD: disfunção diastólica; FEVEr: fração de ejeção do ventrículo esquerdo reduzida; IT: insuficiência tricúspide; SAEr: strain do AE de reservatório; SLGVE: strain longitudinal global do ventrículo esquerdo. Se remodelamento concêntrico, confirmar com SLGVE. Na presença de FEVEr, tempo de desaceleração da onda E mitral (TDE) < 160 ms e onda S < D pulmonar também são parâmetros de pressão de enchimento aumentada. Esse algoritmo não se aplica a pacientes com fibrilação atrial (FA), calcificação do anel mitral ou valvopatia mitral maior que discreta, bloqueio de ramo esquerdo (BRE), ritmo de marca-passo, próteses valvares ou hipertensão pulmonar (HP) primária grave.

Predictors of Hospital Mortality Based on Primary Angioplasty Treatment: A Multicenter Case-Control Study. / Preditores de Mortalidade Hospitalar nos Pacientes Tratados por Angioplastia Primária: Um Estudo de Caso-Controle Multicêntrico.

BACKGROUND: Identification of high-risk patients undergoing primary angioplasty (PCI) is essential. OBJECTIVE: Identify factors related to the causes of death in PCI patients. METHODS: This work consisted of a multicenter case-control study using a Brazilian registry of cardiovascular interventions as the data source. The association between each variable and death was assessed using a binary logistic regression model, p <0.05 was considered significant. RESULTS: A total of 26,990 records were analyzed, of which 18,834 (69.8%) were male patients, with a median age of 61 (±17) years. In the multivariate analysis, the main variables related to the causes of death with their respective odds ratios and 95%confidence intervals (CI) were advanced age, 70-79 years (2.46; 1.64-3.79) and ≥ 80 years (3.69; 2.38-5.81), p<0.001; the classification of Killip II (2.71; 1.92-3.83), Killip III (8.14; 5.67-11.64), and Killip IV (19.83; 14.85-26.69), p<0.001; accentuated global dysfunction (3.63; 2,39-5.68), p<0.001; and the occurrence of infarction after intervention (5.01; 2.57-9.46), p<0.001. The main protective factor was the post-intervention thrombolysis in myocardial infarction (TIMI) III flow (0.18; 0.13-0.24), p<0.001, followed by TIMI II (0.59; 0.41 -0.86), p=0.005, and male (0.79; 0.64-0.98), p = 0.032; dyslipidemia (0.69; 0.59-0.85), p<0.001; and number of lesions treated (0.86; 0.9-0.94), p<0.001. CONCLUSION: The predictors of mortality in patients undergoing PCI were Killip's classification, reinfarction, advanced age, severe left ventricular dysfunction, female gender, and post-intervention TIMI 0 / I flow.

FUNDAMENTO: A estratificação do risco de morte dos pacientes no contexto da angioplastia primária (ATC) é fundamental. OBJETIVO: Identificar os fatores relacionados ao desfecho morte em pacientes submetidos a ATC. MÉTODOS: Estudo de caso-controle, utilizando como fonte de dados um registro brasileiro. A associação entre cada variável e o desfecho óbito foi avaliada via modelo de regressão logística binária. Consideramos significativo p<0,05. RESULTADOS: Foram analisados 26.990 registros, sendo 18.834 (69,8%) do sexo masculino, com idade mediana de 61 (17) anos. Na análise multivariada, as principais variáveis relacionadas ao desfecho óbito com seus respectivos odds ratio e intervalos de confiança (IC) com nível de significância de 95% foram a idade avançada 70 - 79 anos (2,46; 1,64 - 3,79) e ≥ 80 anos (3,68; 2,38 - 5,81), p<0,001, classificação de Killip II (2,71; 1,92 - 3,83), Killip III (8,14; 5,67 - 11,64), Killip IV (19,83; 14,85 - 26,69), p<0,001, disfunção global acentuada do ventrículo esquerdo (VE) (3,63; 2,39 - 5,68), p<0,001 e ocorrência de infarto após a intervenção (5,01; 2,57- 9,46), p<0,001. O principal fator protetor foi o fluxo TIMI III pós-intervenção (0,18; 0,13 - 0,24), p<0,001, seguido do TIMI II (0,59; 0,41 - 0,86), p=0,005, sexo masculino (0,79; 0,64 - 0,98), p= 0,032, dislipidemia (0,69; 0,59 - 0,85), p<0,001 e número de lesões tratadas (0,86; 0,9 - 0,94), p<0,001. CONCLUSÃO: Os preditores de mortalidade nos pacientes submetidos a ATC foram: classificação de Killip, reinfarto, idade, disfunção global acentuada do VE, sexo feminino e fluxo TIMI 0/I pós-intervenção.

Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses. / Acometimento do Ventrículo Direito na Cardiomiopatia por Depósito de Glicogênio (PRKAG2): Análise Ecocardiográfica Convencional e Avançada.

BACKGROUND: PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventricle (RV) echocardiographic findings using two and three-dimensional (2D and 3D) modalities including myocardial deformation indices in this cardiomyopathy. We also aimed to demonstrate whether this technique could identify changes in RV function that could distinguish any particular findings. METHODS: Thirty patients with genetically proven PRKAG2 (R302Q and H401Q), 16 (53.3%) males, mean age 39.1 ± 15.4 years, underwent complete echocardiography examination. RV-focused, 4-chamber view was acquired for 2D and 3D measurements. Student's t or Wilcoxon-Mann-Whitney tests were used to compare numerical variables between 2 groups, and p < 0.05 was considered significant. RESULTS: Twelve patients (40%) had a pacemaker implanted for 12.4 ± 9.9 years. RV free wall mean diastolic thickness was 7.9 ± 2.9 mm. RV 4-chamber longitudinal strain (RV4LS), including the free wall and interventricular septum, was -17.3% ± 6.7%, and RV free wall longitudinal strain (RVFWLS) was -19.1% ± 8.5%. The RVFWLS apical ratio measured 0.63 ± 0.15. Mean RV 3D ejection fraction (EF) was 42.6% ± 10.9% and below normal limits in 56.7% of patients. Positive correlation occurred between RV 3DEF, RV4LS, and RVFWLS, especially for patients without a pacemaker (p = 0.006). CONCLUSION: RV involvement in PRKAG2 syndrome is frequent, occurring in different degrees. Echocardiography is a valuable tool in detecting RV myocardial abnormalities in this condition. The use of 2D RV4LS, RVFWLS, and 3DEF offers reliable indicators of RV systolic dysfunction in this rare, challenging cardiomyopathy.

FUNDAMENTO: A síndrome do PRKAG2 é uma doença hereditária autossômica dominante rara, de início precoce. Objetivamos descrever os achados ecocardiográficos do ventrículo direito (VD) usando modalidades bi e tridimensionais (2D e 3D), incluindo índices de deformação miocárdica nesta cardiomiopatia. Também objetivamos demonstrar se esta técnica poderia identificar alterações na função do VD que pudessem distinguir quaisquer achados particulares. MÉTODOS: Trinta pacientes com síndrome do PRKAG2 (R302Q e H401Q) geneticamente comprovada, 16 (53,3%) do sexo masculino, com idade média de 39,1 ± 15,4 anos, foram submetidos a exame ecocardiográfico completo. A visão de 4 câmaras com foco no VD foi adquirida para medições 2D e 3D. Os testes t de Student ou Wilcoxon-Mann-Whitney foram usados para comparar as variáveis numéricas entre 2 grupos, e p < 0,05 foi considerado significativo. RESULTADOS: Doze pacientes (40%) tiveram marca-passo implantado por 12,4 ± 9,9 anos. A espessura diastólica média da parede livre do VD foi de 7,9 ± 2,9 mm. O strain longitudinal de 4 câmaras do VD (SL4VD), incluindo a parede livre e o septo interventricular, foi de -17,3% ± 6,7%, e o strain longitudinal da parede livre do VD (SLPLVD) foi de −19,1% ± 8,5%. A razão apical do SLPLVD mediu 0,63 ± 0,15. A fração de ejeção (FE) 3D média do VD foi de 42,6% ± 10,9% e abaixo dos limites normais em 56,7% dos pacientes. Correlação positiva ocorreu entre FE 3D do VD, SL4VD e SLPLVD, principalmente para pacientes sem marca-passo (p = 0,006). CONCLUSÃO: O envolvimento do VD em PRKAG2 é frequente e ocorre em diferentes graus. A ecocardiografia é uma ferramenta valiosa na detecção de anormalidades miocárdicas do VD nesta condição. O uso de SL4VD 2D, SLPLVD e FE 3D oferecem indicadores confiáveis de disfunção sistólica do VD nesta cardiomiopatia rara e desafiadora.

Critical Analysis and Limitations of the Diagnosis of Heart Failure with Preserved Ejection Fraction (HFpEF). / Análise Crítica e Limitações do Diagnóstico de Insuficiência Cardíaca com Fração de Ejeção Preservada (ICFEp).

With the increase in the population's life expectancy and the higher frequency of risk factors such as obesity, hypertension and diabetes, an increase in the prevalence of heart failure with preserved ejection fraction (HFpEF) is expected. However, to date, the diagnosis and treatment of patients with HFpEF remain challenging. The syndromic diagnosis of HFpEF includes several etiologies and diseases with specific treatments but has points in common regarding the clinical presentation, laboratory evaluation related to biomarkers, such as BNP and NT-ProBNP, and echocardiographic evaluation of cardiac remodeling and left ventricular diastolic filling pressures. Extensive randomized clinical trials involving the treatment of this condition have failed to demonstrate benefits to the patient, making it necessary to reflect on the diagnosis, mechanisms of morbidity, mortality and reversibility in this syndrome. In this review, the current concepts, controversies and challenges, especially regarding diagnosis, will be addressed, critically analyzing the European Heart Failure Association score for the diagnosis of HFpEF.

Com o aumento da expectativa de vida da população e a maior frequência de fatores de risco como obesidade, hipertensão arterial e diabetes, espera-se um aumento na prevalência de insuficiência cardíaca com fração de ejeção preservada (ICFEp). Entretanto, no momento, o diagnóstico e o tratamento de pacientes com ICFEp permanecem desafiadores. O diagnóstico sindrômico de ICFEp inclui diversas etiologias e doenças com tratamentos específicos, mas que apresentam pontos em comum em relação à apresentação clínica e à avaliação laboratorial no que diz respeito aos biomarcadores como BNP e NT-ProBNP, à avaliação ecocardiográfica do remodelamento cardíaco e às pressões de enchimento diastólico ventricular esquerdo. Extensos ensaios clínicos randomizados envolvendo a terapia nesta síndrome falharam na demonstração de benefícios para o paciente, fazendo-se necessária uma reflexão acerca do diagnóstico, dos mecanismos de morbidade, da taxa de mortalidade e da reversibilidade. Na revisão, serão abordados os conceitos atuais, as controvérsias e, especialmente, os desafios no diagnóstico da ICFEp através de uma análise crítica do escore da European Heart Failure Association.

Glycogen storage cardiomyopathy (PRKAG2): diagnostic findings of standard and advanced echocardiography techniques.

AIMS: Describe the findings obtained using standard echocardiography (Echo) and deformation indices (2D and 3D speckle tracking strain) in patients (Pts) with PRKAG2 cardiomyopathy. Seek to identify any peculiar characteristics and possible strain patterns that may distinguish this condition from other causes of left ventricular hypertrophy (LVH). METHODS AND RESULTS: Thirty Pts with genetically proven PRKAG2 (R302Q and H401Q), 16 (53.3%) male, mean age 39.1± 15.4 years old, were examined using standard, speckle tracking (STE), and 3D Echo. Pacemaker (PM) had been implanted in 12 (40%) Pts with a mean age of 38.1 ± 13 years. Hypertrophy was found in varying degrees in 18 (86%) Pts. Seven Pts (24%) presented 3D ejection fraction (EF) below normal limits. Diastolic function was abnormal in 17 (63%) Pts. Global longitudinal strain (GLS) on 2D measured -16.4% ± 5.3%. GLS measured -13.2% ± 4.8%, global radial strain 40.8% ± 13.8%, global circumferential strain (GCS) -16.1% ± 4.4%, and global area strain -26.1% ± 6.7% by 3D Echo offline analyses. Pts with PM presented lower EF and GCS compared with those without PM. EF/GLS measured 3.65 ± 1.00. In the bull's eye map, a strain pattern similar to stripes in 18 (60%) Pts was identified, which might be a differentiating signal among LVH. CONCLUSION: Echocardiography is a valuable tool in detecting diffuse and focal myocardial abnormalities in PRKAG2 cardiomyopathy. The deformation indices are especially revealing because they may help distinguish this rare infiltrative disease, thereby favouring early diagnosis, enhanced treatment, and improved outcome.

Achados Ecocardiográficos em Crianças de Pacientes com Diagnóstico de Síndrome do PRKAG2 / Echocardiographic Findings in Children of Patients Diagnosed with PRKAG2 Syndrome

Resumo Fundamento: A síndrome do PRKAG2 tipicamente se manifesta na adolescência e início da idade adulta, cursando com hipertrofia ventricular esquerda, arritmias e risco de morte súbita. O achado de marcadores ecocardiográficos antes da manifestação clínica nos filhos de pais acometidos pela doença pode facilitar a estratégia de prevenção e planejamento terapêutico para esse grupo de pacientes. Objetivo: Identificar a existência de achados ecocardiográficos que se manifestem precocemente nos filhos de pais acometidos por síndrome do PRKAG2, enquanto ainda assintomáticos. Métodos: Estudo observacional transversal em que sete participantes, filhos de pais com diagnóstico estabelecido de síndrome do PRKAG2, com idades entre 9 meses e 12 anos e diagnóstico genético comprovado, foram submetidos à ecocardiografia convencional e por técnicas avançadas, tendo seus achados comparados aos de grupo controle composto por sete voluntários pareados por sexo e idade, hígidos do ponto de vista cardiovascular. Um valor de p < 0,05 foi considerado significante. Resultados: A ecocardiografia convencional mostrou valores aumentados com significância estatística no grupo caso para átrio esquerdo, septo interventricular, parede posterior do ventrículo esquerdo, massa ventricular indexada e espessura relativa da parede (p < 0,05). O strain sistólico longitudinal global obtido pelo ecocardiograma bidimensional não mostrou diferença estatisticamente significativa entre os grupos caso e controle. Nenhum dos parâmetros ao ecocardiograma tridimensional apresentou significância estatística entre os grupos. Conclusão: Crianças diagnosticadas com PRKAG2 demonstraram achados ecocardiográficos indicativos de tendência à hipertrofia cardíaca. A ecocardiografia pode ser uma ferramenta útil na avaliação e seguimento desse grupo de pacientes, antes do início de manifestações clínicas.

Abstract Background: PRKAG2 syndrome typically manifests in adolescence and early adulthood, progressing with left ventricular hypertrophy, arrhythmias, and risk of sudden death. Findings of echocardiographic markers before clinical manifestation in children of patients affected by the disease can facilitate prevention strategies and therapeutic planning for this patient group. Objective: To identify the existence of echocardiographic findings that manifest early in children of parents affected by PRKAG2 syndrome, while they are still asymptomatic. Methods: In this cross-sectional observational study, 7 participants who were children of parents with established diagnosis of PRKAG2 syndrome, between the ages of 9 months and 12 years, with proven genetic diagnosis, underwent conventional and advanced echocardiography. Their findings were compared to those of a control group composed of 7 age- and sex-matched volunteers who were healthy from a cardiovascular point of view. P values < 0.05 were considered significant. Results: Conventional echocardiography showed statistically significantly higher values in the case group for left atrium, interventricular septum, left ventricular posterior wall, indexed ventricular mass, and relative wall thickness (p < 0.05). Global longitudinal systolic strain on 2-dimensional echocardiography did not show statistical significance between the case and control groups. None of the parameters on 3-dimensional echocardiography showed statistical significance between groups. Conclusion: Children diagnosed with PRKAG2 showed echocardiographic findings indicative of a tendency toward cardiac hypertrophy. Echocardiography can be a useful tool in the evaluation and follow-up of this patient group before the onset of clinical manifestations.

Diretriz Brasileira de Ergometria em Crianças e Adolescentes - 2024 / Brazilian Guideline for Exercise Testing in Children and Adolescents - 2024

Classes de Recomendação Classe I: Condições para as quais há evidências conclusivas e, na sua falta, consenso geral de que o procedimento é seguro e útil/eficaz. Classe II: Condições para as quais há evidências conflitantes e/ou divergência de opinião sobre a segurança e utilidade/eficácia do procedimento. Classe IIa: Peso ou evidência/opinião a favor do procedimento. A maioria aprova. Classe IIb: Segurança e utilidade/eficácia menos estabelecidas, havendo opiniões divergentes. Classe III: Condições para as quais há evidências e/ou consenso de que o procedimento não é útil/eficaz e, em alguns casos, pode ser prejudicial. Níveis de Evidência Nível A: Dados obtidos a partir de múltiplos estudos randomizados de bom porte, concordantes e/ou de metanálise robusta de estudos randomizados. Nível B: Dados obtidos a partir de metanálise menos robusta, a partir de um único estudo randomizado e/ou de estudos observacionais. Nível C: Dados obtidos de opiniões consensuais de especialistas.

Classes of Recommendation Class I: Conditions for which there is conclusive evidence and, failing that, general agreement that a given procedure is safe and useful/effective. Class II: Conditions for which there is conflicting evidence and/or a divergence of opinion about the safety and usefulness/efficacy of a procedure. Class IIa: Weight or evidence/opinion in favor of the procedure. Most approve. Class IIb: Safety and usefulness/efficacy less well established, with divergence of opinions. Class III: Conditions for which there is evidence and/or general agreement that a procedure is not useful/effective and, in some cases, may be harmful. Levels of Evidence Level A: Data derived from multiple large, concordant randomized trials and/or robust meta-analyses of randomized trials. Level B: Data derived from less robust meta-analyses, from a single randomized trial and/or from observational studies. Level C: Data derived from consensus opinion of experts.

Preditores de Mortalidade Hospitalar nos Pacientes Tratados por Angioplastia Primária: Um Estudo de Caso-Controle Multicêntrico / Predictors of Hospital Mortality Based on Primary Angioplasty Treatment: A Multicenter Case-Control Study

Resumo Fundamento A estratificação do risco de morte dos pacientes no contexto da angioplastia primária (ATC) é fundamental. Objetivo Identificar os fatores relacionados ao desfecho morte em pacientes submetidos a ATC. Métodos Estudo de caso-controle, utilizando como fonte de dados um registro brasileiro. A associação entre cada variável e o desfecho óbito foi avaliada via modelo de regressão logística binária. Consideramos significativo p<0,05. Resultados Foram analisados 26.990 registros, sendo 18.834 (69,8%) do sexo masculino, com idade mediana de 61 (17) anos. Na análise multivariada, as principais variáveis relacionadas ao desfecho óbito com seus respectivos odds ratio e intervalos de confiança (IC) com nível de significância de 95% foram a idade avançada 70 - 79 anos (2,46; 1,64 - 3,79) e ≥ 80 anos (3,68; 2,38 - 5,81), p<0,001, classificação de Killip II (2,71; 1,92 - 3,83), Killip III (8,14; 5,67 - 11,64), Killip IV (19,83; 14,85 - 26,69), p<0,001, disfunção global acentuada do ventrículo esquerdo (VE) (3,63; 2,39 - 5,68), p<0,001 e ocorrência de infarto após a intervenção (5,01; 2,57- 9,46), p<0,001. O principal fator protetor foi o fluxo TIMI III pós-intervenção (0,18; 0,13 - 0,24), p<0,001, seguido do TIMI II (0,59; 0,41 - 0,86), p=0,005, sexo masculino (0,79; 0,64 - 0,98), p= 0,032, dislipidemia (0,69; 0,59 - 0,85), p<0,001 e número de lesões tratadas (0,86; 0,9 - 0,94), p<0,001. Conclusão Os preditores de mortalidade nos pacientes submetidos a ATC foram: classificação de Killip, reinfarto, idade, disfunção global acentuada do VE, sexo feminino e fluxo TIMI 0/I pós-intervenção.

Abstract Background Identification of high-risk patients undergoing primary angioplasty (PCI) is essential. Objective Identify factors related to the causes of death in PCI patients. Methods This work consisted of a multicenter case-control study using a Brazilian registry of cardiovascular interventions as the data source. The association between each variable and death was assessed using a binary logistic regression model, p <0.05 was considered significant. Results A total of 26,990 records were analyzed, of which 18,834 (69.8%) were male patients, with a median age of 61 (±17) years. In the multivariate analysis, the main variables related to the causes of death with their respective odds ratios and 95%confidence intervals (CI) were advanced age, 70-79 years (2.46; 1.64-3.79) and ≥ 80 years (3.69; 2.38-5.81), p<0.001; the classification of Killip II (2.71; 1.92-3.83), Killip III (8.14; 5.67-11.64), and Killip IV (19.83; 14.85-26.69), p<0.001; accentuated global dysfunction (3.63; 2,39-5.68), p<0.001; and the occurrence of infarction after intervention (5.01; 2.57-9.46), p<0.001. The main protective factor was the post-intervention thrombolysis in myocardial infarction (TIMI) III flow (0.18; 0.13-0.24), p<0.001, followed by TIMI II (0.59; 0.41 -0.86), p=0.005, and male (0.79; 0.64-0.98), p = 0.032; dyslipidemia (0.69; 0.59-0.85), p<0.001; and number of lesions treated (0.86; 0.9-0.94), p<0.001. Conclusion The predictors of mortality in patients undergoing PCI were Killip's classification, reinfarction, advanced age, severe left ventricular dysfunction, female gender, and post-intervention TIMI 0 / I flow.

Chronic Obstructive Pulmonary Disease: The Role of Myocardial Deformation Indices and Right Ventricle Three-Dimensional Echocardiography

Abstract Background: Right ventricular dysfunction is a major complication in chronic obstructive pulmonary disease (COPD) and, despite its prognostic implications, is rarely considered in routine clinical analysis. Objectives: To compare RV function variables with standard and advanced echocardiographic techniques in patients with stable COPD and controls. Methods: Twenty COPD patients classified as GOLD ≥ II (13 men aged 68.4 ± 8.3 years) and 20 matched controls were compared. Myocardial strain/strain rate indices were obtained by tissue Doppler and two-dimensional speckle tracking echocardiography. Right ventricular ejection fraction was obtained with three-dimensional software. Free wall myocardial thickness (FWMT) and tricuspid annular systolic excursion (TAPSE) were also measured. Numerical variables were compared between groups with Student's t-test or the Mann-Whitney test. Associations between categorical variables were determined with Fisher's exact test. P-values < 0.05 were considered statistically significant. Results: All myocardial deformation indices, particularly global longitudinal strain (-17.2 ± 4.4 vs -21.2: ± 4.4 = 0.001) and 3D right ventricular ejection fraction (40.8 ± 9.3% vs 51.1 ± 6.4% p <0.001) were reduced in COPD patients. These patients presented higher right ventricular FWMT and lower TAPSE values than controls. Conclusion: Myocardial deformation indices, either tissue Doppler or speckle tracking echocardiography and 3D right ventricular ejection fraction, are robust markers of right ventricular dysfunction in patients with stable COPD. Assessing global longitudinal strain by speckle tracking echocardiography is a more practical and reproducible method.

Acometimento do Ventrículo Direito na Cardiomiopatia por Depósito de Glicogênio (PRKAG2): Análise Ecocardiográfica Convencional e Avançada / Right Ventricle Involvement by Glycogen Storage Cardiomyopathy (PRKAG2): Standard and Advanced Echocardiography Analyses

Resumo Fundamento A síndrome do PRKAG2 é uma doença hereditária autossômica dominante rara, de início precoce. Objetivamos descrever os achados ecocardiográficos do ventrículo direito (VD) usando modalidades bi e tridimensionais (2D e 3D), incluindo índices de deformação miocárdica nesta cardiomiopatia. Também objetivamos demonstrar se esta técnica poderia identificar alterações na função do VD que pudessem distinguir quaisquer achados particulares. Métodos Trinta pacientes com síndrome do PRKAG2 (R302Q e H401Q) geneticamente comprovada, 16 (53,3%) do sexo masculino, com idade média de 39,1 ± 15,4 anos, foram submetidos a exame ecocardiográfico completo. A visão de 4 câmaras com foco no VD foi adquirida para medições 2D e 3D. Os testes t de Student ou Wilcoxon-Mann-Whitney foram usados para comparar as variáveis numéricas entre 2 grupos, e p < 0,05 foi considerado significativo. Resultados Doze pacientes (40%) tiveram marca-passo implantado por 12,4 ± 9,9 anos. A espessura diastólica média da parede livre do VD foi de 7,9 ± 2,9 mm. O strain longitudinal de 4 câmaras do VD (SL4VD), incluindo a parede livre e o septo interventricular, foi de -17,3% ± 6,7%, e o strain longitudinal da parede livre do VD (SLPLVD) foi de −19,1% ± 8,5%. A razão apical do SLPLVD mediu 0,63 ± 0,15. A fração de ejeção (FE) 3D média do VD foi de 42,6% ± 10,9% e abaixo dos limites normais em 56,7% dos pacientes. Correlação positiva ocorreu entre FE 3D do VD, SL4VD e SLPLVD, principalmente para pacientes sem marca-passo (p = 0,006). Conclusão O envolvimento do VD em PRKAG2 é frequente e ocorre em diferentes graus. A ecocardiografia é uma ferramenta valiosa na detecção de anormalidades miocárdicas do VD nesta condição. O uso de SL4VD 2D, SLPLVD e FE 3D oferecem indicadores confiáveis de disfunção sistólica do VD nesta cardiomiopatia rara e desafiadora.

Abstract Background PRKAG2 syndrome is a rare, early-onset autosomal dominant inherited disease. We aimed to describe the right ventricle (RV) echocardiographic findings using two and three-dimensional (2D and 3D) modalities including myocardial deformation indices in this cardiomyopathy. We also aimed to demonstrate whether this technique could identify changes in RV function that could distinguish any particular findings. Methods Thirty patients with genetically proven PRKAG2 (R302Q and H401Q), 16 (53.3%) males, mean age 39.1 ± 15.4 years, underwent complete echocardiography examination. RV-focused, 4-chamber view was acquired for 2D and 3D measurements. Student's t or Wilcoxon-Mann-Whitney tests were used to compare numerical variables between 2 groups, and p < 0.05 was considered significant. Results Twelve patients (40%) had a pacemaker implanted for 12.4 ± 9.9 years. RV free wall mean diastolic thickness was 7.9 ± 2.9 mm. RV 4-chamber longitudinal strain (RV4LS), including the free wall and interventricular septum, was -17.3% ± 6.7%, and RV free wall longitudinal strain (RVFWLS) was −19.1% ± 8.5%. The RVFWLS apical ratio measured 0.63 ± 0.15. Mean RV 3D ejection fraction (EF) was 42.6% ± 10.9% and below normal limits in 56.7% of patients. Positive correlation occurred between RV 3DEF, RV4LS, and RVFWLS, especially for patients without a pacemaker (p = 0.006). Conclusion RV involvement in PRKAG2 syndrome is frequent, occurring in different degrees. Echocardiography is a valuable tool in detecting RV myocardial abnormalities in this condition. The use of 2D RV4LS, RVFWLS, and 3DEF offers reliable indicators of RV systolic dysfunction in this rare, challenging cardiomyopathy.

Análise Crítica e Limitações do Diagnóstico de Insuficiência Cardíaca com Fração de Ejeção Preservada (ICFEp) / Critical Analysis and Limitations of the Diagnosis of Heart Failure with Preserved Ejection Fraction (HFpEF)

Resumo Com o aumento da expectativa de vida da população e a maior frequência de fatores de risco como obesidade, hipertensão arterial e diabetes, espera-se um aumento na prevalência de insuficiência cardíaca com fração de ejeção preservada (ICFEp). Entretanto, no momento, o diagnóstico e o tratamento de pacientes com ICFEp permanecem desafiadores. O diagnóstico sindrômico de ICFEp inclui diversas etiologias e doenças com tratamentos específicos, mas que apresentam pontos em comum em relação à apresentação clínica e à avaliação laboratorial no que diz respeito aos biomarcadores como BNP e NT-ProBNP, à avaliação ecocardiográfica do remodelamento cardíaco e às pressões de enchimento diastólico ventricular esquerdo. Extensos ensaios clínicos randomizados envolvendo a terapia nesta síndrome falharam na demonstração de benefícios para o paciente, fazendo-se necessária uma reflexão acerca do diagnóstico, dos mecanismos de morbidade, da taxa de mortalidade e da reversibilidade. Na revisão, serão abordados os conceitos atuais, as controvérsias e, especialmente, os desafios no diagnóstico da ICFEp através de uma análise crítica do escore da European Heart Failure Association.

Abstract With the increase in the population's life expectancy and the higher frequency of risk factors such as obesity, hypertension and diabetes, an increase in the prevalence of heart failure with preserved ejection fraction (HFpEF) is expected. However, to date, the diagnosis and treatment of patients with HFpEF remain challenging. The syndromic diagnosis of HFpEF includes several etiologies and diseases with specific treatments but has points in common regarding the clinical presentation, laboratory evaluation related to biomarkers, such as BNP and NT-ProBNP, and echocardiographic evaluation of cardiac remodeling and left ventricular diastolic filling pressures. Extensive randomized clinical trials involving the treatment of this condition have failed to demonstrate benefits to the patient, making it necessary to reflect on the diagnosis, mechanisms of morbidity, mortality and reversibility in this syndrome. In this review, the current concepts, controversies and challenges, especially regarding diagnosis, will be addressed, critically analyzing the European Heart Failure Association score for the diagnosis of HFpEF.