Diagnosis

IJCS

Brief Communication

Beyond Hypertrophic Cardiomyopathy: Rethinking Ventricular Thickening in the Spectrum of Cardiomyopathies

Fábio Fernandes et al. Murillo Oliveira Antunes Felix José Alvares Ramires Vinicius Machado Correia … Viviane Tiemi Hotta Juliano Novaes Cardoso Luciano Nastari Barbara Maria Ianni Marcelo Luiz Campos Vieira Charles Mady Jeffrey B. Geske Adelaide M. Arruda-Olson Alan Silva Martins Guilherme José dos Santos Ferreira Vagner Madrini Junior

Hypertrophic cardiomyopathy: potentially misleading nomenclature

In pathology, hypertrophy is the increase in cell size.³ In the heart, this suggests hypertrophy of cardiomyocytes, which can induce an anchoring bias, leading physicians to prioritize the diagnosis of sarcomeric hypertrophic cardiomyopathy, while diseases such as cardiac amyloidosis — where thickening is due to extracellular amyloid accumulation — are underdiagnosed.

This problem is exacerbated in echocardiographic reports, which often use “hypertrophic cardiomyopathy” nonspecifically. Although echocardiography is useful, it does not differentiate between thickening due to cellular hypertrophy or interstitial accumulation (infiltrative or storage diseases), making the term inadequate and potentially harmful in guiding clinical investigation and decisions.

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IJCS

Editorial

AI-Enhanced ECGs for the Diagnosis of HFpEF: A Promising Frontier, But Not Yet a Standalone Solution

Humberto Villacorta

Heart Failure with preserved Ejection Fraction (HFpEF) is among the most challenging syndromes in contemporary cardiology. Despite accounting for nearly half of all heart failure cases, HFpEF remains chronically underdiagnosed and is associated with significant morbidity and mortality.^, The diagnosis of HFpEF is challenging and relies on clinical history, natriuretic peptide measurements, and echocardiography. Diagnostic scores have been developed that integrate these three key elements.^, Echocardiography is indispensable for identifying structural and functional criteria, but its availability and cost make population-level screening impractical in many healthcare systems. In addition, in many places, a comprehensive echocardiogram is not performed. Likewise, natriuretic peptides are not always available. Therefore, new solutions to facilitate diagnosis are welcome.

In this context, the systematic review and meta-analysis presented in this issue of International Journal of Cardiovascular Sciences, provide important insights into an increasingly discussed alternative: Artificial Intelligence-enhanced Electrocardiography (AI-ECG). Drawing from more than 170,000 patients across three observational studies, the authors report a pooled sensitivity of 0.89, specificity of 0.80, and an AUC of 0.89 for AI-ECG in detecting HFpEF. These findings suggest that deep learning models can extract subtle electrical signatures associated with diastolic dysfunction – signals that may be visually imperceptible on standard ECGs. The appeal is clear: the ECG is universal, inexpensive, rapid, and deeply embedded in clinical workflows. If Artificial Intelligence could reliably identify patients requiring echocardiographic confirmation, screening strategies might be revolutionized.

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IJCS

Original Article

Diagnostic Performance of Artificial Intelligence-Driven Electrocardiogram Algorithms in Detecting Heart Failure with Preserved Ejection Fraction: A Systematic Review and Meta-Analysis

Gustavo Barbosa David et al. Nicolas Ramos Ramon Huntermann Juan Peres de Oliveira … Maria Eduarda Molinari Caroline de Oliveira Fischer Bacca

Abstract

Background:

Heart failure with preserved ejection fraction (HFpEF) is a highly prevalent syndrome associated with substantial morbidity and mortality. Accurate diagnosis is often challenging and costly. Recently, artificial intelligence-based electrocardiogram (AI-ECG) algorithms have emerged to make the diagnosis of HFpEF less expensive and more accessible. However, there is a lack of data regarding their accuracy.

Objective:

We aimed to conduct a systematic review and meta-analysis to evaluate the diagnostic performance of AI-ECG algorithms in detecting HFpEF.

Methods:

We searched PubMed, Embase, and Cochrane databases for studies evaluating AI-ECG algorithms in diagnosing HFpEF. We extracted true-positive, true-negative, false-positive, and false-negative events to estimate pooled sensitivity, specificity with 95% confidence intervals (CI), and area under the curve. Statistical analysis was performed using R under a random-effects model. Heterogeneity was assessed with I² statistics.

Results:

We included three studies comprising 171,073 patients (66.86% with HFpEF), in which an AI-ECG was evaluated alongside echocardiography, with a left ventricular ejection fraction of ≥ 50%. The patients’ mean age was 65.86 ± 4.5 years, and 48.12% were male. AI-ECG algorithms demonstrated a sensitivity of 0.89 (95% CI: 0.64 to 0.97), specificity of 0.80 (95% CI: 0.65 to 0.89), and an area under the receiver operating characteristic curve of 0.89 (95% CI: 0.85 to 0.92).

Conclusion:

AI-ECG algorithms demonstrate moderate to high sensitivity, specificity, and accuracy in diagnosing HFpEF, supporting their potential for routine screening and early detection.

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IJCS

Review Article

Cardiac Amyloidosis in Women: An Underappreciated Diagnosis

Larissa Neto Espíndola et al. Gláucia Maria Moraes de Oliveira Cláudia Maria Vilas Freire Marildes Luiza de Castro Maria Cristina Costa de Almeida

Abstract

Cardiac amyloidosis (CA) is an infiltrative cardiomyopathy that affects the heart mostly in two forms: immunoglobulin light chain amyloidosis (AL-CM) and transthyretin amyloidosis.

Transthyretin amyloid cardiomyopathy (ATTR-CM) predominantly affects the elderly population, mainly men (about 70-80%), and usually manifests with symptoms of heart failure (HF).

Despite technological advances in medicine, CA is still an underdiagnosed condition, especially in women, partly due to the known male predominance and high level of suspicion required for diagnosis. It is important to remember that amyloidosis is a systemic disease with a heterogeneous and non-specific presentation. It’s worth paying attention to the patient’s medical history and red flags in clinical and diagnostic tests (electrocardiogram [ECG], echocardiogram [ECHO], cardiac magnetic resonance [CMR]).

Accurate and timely diagnosis is crucial for appropriate management and prognosis.

So far, the under-representation of women in clinical trials may have also limited the evidence on sex-specific diagnosis, and outcomes.

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IJCS

Review Article

Pyrophosphate Scintigraphy: Use in the Diagnosis and Monitoring of Cardiac Amyloidosis

Claudio Tinoco Mesquita et al. Davi Shunji Yahiro José Felipe Ramos dos Santos Luís Eduardo Machado … Jose Gregorio Valero Rodriguez Giovane Leal de Azevedo Junior Marcus Simões

Abstract

Cardiac amyloidosis (CA) is a progressive condition marked by the accumulation of amyloid fibrils in cardiac tissue, resulting in cardiac dysfunction and, ultimately, heart failure. Pyrophosphate scintigraphy has emerged as a promising tool for the early detection and monitoring of CA, providing valuable insights into the disease’s extent and severity. This review examines the current use of pyrophosphate scintigraphy in distinguishing between different types of amyloidosis, assessing risk levels, and monitoring patients with CA. It underscores the clinical significance and prospects of this imaging technique.

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IJCS

Editorial

Achievements, Challenges and Opportunities in MicroRNAs and Chagas Disease

Giovani Carlo Veríssimo da Costa

MicroRNAs (miRNAs) were discovered in 1993 in studies of the nematode Caenorhabditis elegans and since then, these molecules have been of considerable importance in clinical practice for their use as potential biomarkers of different health and disease conditions.

In cell biology, the miRNAs play an important role in the physiological and pathological regulation of various biological processes and act as post-transcriptional regulators by binding to messenger RNA and preventing its translation or promoting molecular cleavage.^–miRNAs regulate different degenerative processes, cancer and immunological diseases. The increase and extracellular circulation reinforce the importance of these molecules as molecular biomarkers for prognosis, diagnosis, evolution, monitoring and therapy.^–

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IJCS

Review Article

One Size Does Not Fit All: The Need to Rethink the Metabolic Syndrome in Women

Maria Cristina Costa de Almeida et al. Marildes Luiza Castro Larissa Espíndola Neto Luciana Nicolau Aranha … Thaís Salim Gláucia Maria Moraes de Oliveira

Abstract

Metabolic syndrome (MetS) is increasing at epidemic proportions worldwide. MetS and its components are frequent among Brazilian women (41.8%). Women are affected by changes in adipose tissue distribution, lipid profile, insulin resistance (IR), and vascular remodeling during their lives. These changes result from the lack of estrogen after menopause. There have been various attempts to propose a uniform origin for the clustering of the MetS components, including genetics, IR, obesity, lifestyle, sleep disturbances, inflammation, fetal and neonatal programming, and disturbed circadian rhythm of the body functions. The proinflammatory and prothrombotic state in MetS is well-defined. Socioeconomic and lifestyle-related factors are also essential triggers of MetS, which is associated with a higher risk for coronary artery diseases (CAD) and stroke in women. Population measures in health and community medicine, such as continuing education on the importance of lifestyle change to reduce cardiovascular risks from early childhood, are fundamental strategies. Statins reduce high-sensitivity C-reactive protein blood levels and treat high cholesterol. According to the patient, hypoglycemic agents, such as dipeptidyl peptidase-4 (DPP-4) inhibitors, glucagon-like peptide-1(GLP-1a), and sodium-glucose transport protein 2 (SGLT2) inhibitors, in addition to metformin, have their indication due to their beneficial cardiometabolic and vascular effects. Angiotensin-converting enzyme inhibitor (ACEI) and angiotensin-receptor blocker (ARB) should be the first choice to treat hypertension in postmenopausal womem. The recognition of the different gender- and age-specific risk factors, allowing for specific and targeted interventions, is fundamental, especially for women.

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ABC

Editorial

Ecocardiografia Transtorácica na Hipertensão Pulmonar: Ferramenta Fácil, mas é Preciso Cautela!

Hugo Hyung Bok Yoo

A triagem de indivíduos de alto risco para hipertensão pulmonar (HP) geralmente começa com a ecocardiografia transtorácica (ETT) como o teste de primeira escolha para avaliação não invasiva do estado hemodinâmico vascular pulmonar. Portanto, a ecocardiografia pode fornecer informações abrangentes sobre a morfologia do coração, a função ventricular e anormalidades valvares.

A ecocardiografia também é uma ferramenta útil para estimar a pressão arterial pulmonar sistólica (PSAP), as pressões do ventrículo direito (VD) e do átrio direito (AD) para atribuir um parâmetro ecocardiográfico da probabilidade de HP. Na maioria das vezes, a velocidade do jato de regurgitação tricúspide (VRT) é medida por ETT e, juntamente com uma estimativa da pressão atrial direita (PAD) baseada no colapso inspiratório e no tamanho da veia cava inferior, o jato VRT é usado para estimar a pressão sistólica da artéria pulmonar (PSAP).

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IJCS

Review Article

Exercise Stress Test in The Assessment of Brugada Syndrome Patients

Camila Pinto Cavalcante Miná et al. Eduardo Augusto Quidute Rocha Daniela Gardano Bucharles Mont’Alverne Eduardo Arrais Rocha

Abstract

Brugada syndrome (BS) is a genetic channelopathy, clinically characterized by an increased risk of sudden cardiac death. The diagnosis requires a typical electrocardiographic pattern, and data on risk stratification are limited in the literature. The aim of this study was to conduct a review on the importance of exercise stress test (EST) in risk stratification in BS. Articles were searched in the PubMed, Scielo and Google Scholar databases. From the 200 articles retrieved, eight were included, with a total of 712 patients (95% men) aged between 35 and 60 years. Severe symptoms and ventricular arrhythmias were reported by 256 patients before the EST, with syncope being reported in 70% of cases. The reviewed articles suggest that the EST is a safe method that can help in the diagnosis and risk stratification for malignant arrhythmias in patients with BS. Potential predictors of poor prognosis were: augmentation in ST-segment elevation > 0.5 mV in V1, V2 or V3 in early recovery; J-point elevation in lead > 2mm in aVR in late recovery; heart rate reduction < 40% from maximum heart rate in late recovery and occurrence of ventricular extrasystoles in early recovery.

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ABCIC

Review Article

Diastolic Function: Current Approach to Echocardiographic Diagnosis

Oscar Francisco Sanchez-Osella et al. Rafael Castilla-Fassio Marcelo Luiz Campos-Vieira

Abstract

Echocardiography allows the detection and quantification of diastolic dysfunction using numerous parameters that seem to make the task very complex, particularly in more severe dysfunctions. In this article, the parameters used, and the available technological resources are reviewed and updated. An algorithm is proposed to guide the progressive incorporation of the necessary variables, according to the findings. The evaluation, performed in a methodical way, following an adequate algorithm allows reaching the diagnosis with high sensitivity and specificity in almost all cases, making echocardiography the best non-invasive method for the diagnosis and evaluation of this frequent dysfunction.

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IJCS

Case Report

Cardiac Arrest and Exercise-Induced Polymorphic Ventricular Tachycardia: An Elusive Diagnosis

Nestor Rodrigues de Oliveira et al. William Santos de Oliveira Adalberto Atsushi Porto Fabio Mastrocola … Ana Eloisa Novaes Roberto Moreno Mendonça Júlio César Vieira de Sousa

Introduction

Polymorphic ventricular tachycardia (VT) is defined as a rapid rhythm with continuously changing ventricular activation. In the absence of QT interval prolongation, its evaluation is a challenging activity with a series of differential diagnoses. The present study reports on a case of a young man who had an out-of-hospital cardiac arrest and and who later presented an episode of exercise-induced polymorphic VT. A rational investigation is discussed based on the patient’s clinical findings and baseline ECG.

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ABC

Artigo de Pesquisa

Atualização da diretriz brasileira de insuficiência cardíaca crônica – 2012

EA Bocchi et al. FG Marcondes-Braga F Bacal AS Ferraz … D Albuquerque D Rodrigues

Esta atualização da Diretriz de Insuficiência Cardíaca Crônica (IC) – 2012 surge para reavaliar as recomendações através de uma avaliação criteriosa das pesquisas (considerando-se a qualidade dos estudos), fundamental para que se atinja esse propósito. Para tanto, foi dada ênfase ao efeito em desfechos de morte, à qualidade “CONSORT” (Consolidated Standards of Reporting Trials), à descrição qualitativa e quantitativa da otimização da medicação, à população realmente incluída, às metanálises somente de estudos qualidade “CONSORT”, à custo-efetividade, à existência de efeito de classe, ao número de pacientes incluídos e à análise de subgrupos apenas para gerar hipóteses. Na área da epidemiologia, as recentes abordagens das características da IC com fração de ejeção preservada (ICFEP) e da importância da IC como causa de morte no Brasil foram revisadas. Além disso, este documento contempla a reavaliação do valor dos biomarcadores no diagnóstico e no seguimento da IC, o papel diagnóstico da angiotomografia coronariana nos casos de risco intermediário ou baixo risco de doença coronariana, a não recomendação de rotina do telemonitoramento; o surgimento da avaliação familiar como recomendação importante, e a reavaliação da restrição da adição de sal na dieta. As clínicas de IC e reabilitação física, apesar de alguns resultados negativos ou controversos quanto à mortalidade, continuam com recomendação importante. No campo do tratamento farmacológico, abrange-se a reavaliação da indicação do nebivolol, introduz-se a ivabradina como um novo paradigma no tratamento, os antagonistas da aldosterona não têm efeito de classe reconhecido, o ômega 3 passa a ser recomendado, o ferro administrado por via endovenosa e o sildenafil recebem indicação em casos selecionados. Todas as recomendações para outras etiologias são expandidas para a Doença de Chagas. Na área da anticoagulação, recomenda-se a utilização dos escores CHA2DS2VASC e o HAS-BLED na fibrilação atrial, com introdução de inibidores da trombina e do fator Xa como alternativas na anticoagulação. No tratamento cirúrgico da IC, considerou-se que resultados neutros do estudo STICH influenciaram as recomendações, o transplante cardíaco continua a ser o tratamento indicado nas fases evolutivas tardias de IC, os dispositivos de assistência circulatória mecânica para terapia de destino passam a ter recomendação, a duração do QRS foi fundamental na indicação de TRV-AV, e o CDI continua com recomendação I para miocardiopatia isquêmica. Entretanto, baseada em análise crítica dos estudos considerando-se o custo-efetividade, o CDI não atingiu recomendação I para classes menos graves devido as limitações dos estudos. Também a importância da cardiotoxicidade por drogas para tratamento de neoplasias foi ressaltada, o tratamento da IC na gravidez e da miocardite foi revisado. Novos potenciais métodos de tratamento em fase de pesquisa são apresentados e novos fluxogramas de diagnóstico e tratamento da IC, reformulados, foram incluídos

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ABC

Original Article

Aortopulmonary window. Clinical and surgical assessment of 18 cases

Andressa Mussi Soares et al. Edmar Atik Tâmara Martins Cortêz Angela Maria T. Albuquerque … Claudia P. Castro Miguel Barbero-Marcial Munir Ebaid

OBJECTIVE: Aortopulmonary window (APW) is an uncommon congenital malformation. Its clinical presentation is dependent on the size of the defect and on the associated lesions. We evaluated our experience with this anomaly and compared it with 296 cases reported in the literature. METHODS: Retrospective study of 18 patients diagnosed as having APW (age range from 13 days to 31 years, 13 (72.2%) females), divided into two groups: Group A (GA): 10 patients with isolated APW, and Group B (GB): 8 patients with associated lesions. RESULTS: Heart failure occurred in 14 patients, and cyanosis in 3: 2 from GB (tetralogy of Fallot – TF, and double outlet right ventricle – DORV), and one from GA with pulmonary hypertension. In 5 patients from GA the diagnosis of mitral regurgitation was made based on a systolic murmur and LV hypertrophy on the EKG. In GB, clinical findings were determined by the associated defect. Diagnosis was established by echocardiography in 11 (61.2%) of the patients. In 3 patients, a wrong diagnosis of mitral regurgitation was made, in 1 a patent ductus arteriosus was diagnosed and in 3 others, the diagnosis of APW was masked by other important associated defects (2 cases of DORV and 1 case of TF). The diagnosis was made by catheterization in 3 (16.6%) patients, by surgery in 3 (16.6%) and by necropsy in 1 (5.5%). Corrective surgery was performed in 14 (77.7%) patients, with one immediate death and good long-term follow-up in the remaining patients. CONCLUSION: APW can be confused with other defects. Clinical findings, associated with an adequate echocardiogram can provide the information for the correct diagnosis.

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