Hypertrophic Cardiomyopathy – ABC CARDIOL

ABCIC

Case Report

Apical Hypertrophic Cardiomyopathy with Microfistulas: Correlation Between Coronary Flow Steal, Positive Inotropic Effect, and Normalization of T-Wave Polarity

José Sebastiao de Abreu et al. Tereza Cristina Pinheiro Diógenes Marília Esther Benevides Abreu Isadora Sucupira Machado Chagas Mateus Paiva Marques Feitosa

Introduction

Apical hypertrophic cardiomyopathy (HCM) with microfistulas is a rare condition, and the incidence of multiple microfistulas draining into the left ventricle (LV) ranges from 0.07% to 0.09%.^, Diagnosis can be established via contrast ventriculography, coronary angiography, and echocardiography.^–

Two-dimensional echocardiography with color and pulsed-wave Doppler allows visualization of microfistula flow and measurement of diastolic flow velocity (DFV) using the same approach as for the left anterior descending artery (LAD).

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ABC

Original Article

Systematic Review on the Safety of Physical Exercise in Hypertrophic Cardiomyopathy: Recommendations from the Brazilian Society of Cardiology

Ricardo Stein et al. Rodrigo Otávio Bougleux Alô Luiz Eduardo Fonteles Ritt Alexsandro Alves Fagundes … Anderson Donelli da Silveira Artur Haddad Herdy Clea Colombo Cristiano Faria Pisani Fabrício Braga Frank Nunes Luciana Sacilotto Marconi Gomes Silva Mauricio Milani Mauricio Pimentel Milena dos Santos Barros Campos Nágela Simão Vinhosa Nunes Pablo Marino Nascimento Susimeire Buglia José Ronyeryson dos Santos Evangelista Filipe Ferrari Leonardo Castro Luna

Abstract

Background

Although historically discouraged due to the risk of arrhythmias and sudden cardiac death (SCD), physical exercise (PE) may be safe and beneficial for individuals with hypertrophic cardiomyopathy (HCM).

Objective

To evaluate the association between PE and the incidence of mortality and arrhythmic events in adults with HCM, stratifying the analysis according to different types and intensities of exercise.

Methods

Systematic review of randomized clinical trials (RCTs) and observational studies identified in PubMed, Embase, and the Cochrane Library through December 2024. Studies including individuals exposed to different intensities of PE were eligible. Risk of bias was assessed using the RoB 2 and ROBINS-I tools, and certainty of evidence using GRADE. Recommendations were developed by an expert panel of the Brazilian Society of Cardiology.

Results

Eight studies (four RCTs and four observational studies; 9,744 participants) were included. None reported an increased risk of mortality or severe arrhythmic events associated with PE, even at moderate or vigorous intensities. Syncope was rare. Additionally, a Korean observational study involving more than 7,000 participants (mean age: 59 years) demonstrated reduced all-cause mortality with higher physical activity intensity (dose–response curve). In low-risk athletes, competitive sports were not associated with severe adverse events. The quality of evidence ranged from moderate to very low.

Conclusion

PE in HCM should be encouraged based on individualized assessment. In patients without high-risk criteria for SCD, benefits appear to outweigh risks. For higher-risk subgroups, recommendations are more cautious and based on expert consensus.

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ABC

Case Report

Hypertrophic Phenotype in an Adolescent from the Amazon Region Associated with Combined Variants in the GLA, TTR, and PRKAG2 genes

Matheus Martins Monteiro et al. Kemelly Ferreira da Silva Jessica Vanina Ortiz Marcos Leite Barbosa Ferreira … Kátia do Nascimento Couceiro Rodrigo Fernandes de Castro Fábio Fernandes João Marcos Bemfica Barbosa Ferreira Investigadores do Mapa Genoma Brasil Investigadores do Mapa Genoma Brasil Bianca Domit Wener Linnenkamp Emanuelle Leonilia Marques José Eduardo Krieger

Introduction

Hypertrophic cardiomyopathy (HCM) phenotype is defined as increased wall thickness of the left and/or right ventricle without loading conditions that explain this. Its diagnosis is confirmed by imaging tests such as echocardiogram and cardiac magnetic resonance (CMR) with the presence of wall thickness ≥ 15 mm in any myocardial segment or 13 mm in first-grade relatives of patients with a confirmed diagnosis. The most common cause of this phenotype is genetic HCM caused by mutations in genes encoding sarcomeric proteins. Most patients with HCM are asymptomatic, but some patients may present significant symptoms, and this is an important cause of sudden death in young people. However, it is important to consider other conditions known as phenocopies because they may have similar characteristics in imaging tests, but with specific etiologies that have different pathophysiological mechanisms. Among these phenocopies, we highlight mitochondrial diseases, RASopathies, muscular dystrophies, PRKAG2 syndrome, Fabry disease, and cardiac amyloidosis. Their differential diagnosis is essential because these phenocopies present specific diagnostic and therapeutic strategies that can impact the natural evolution of disease. The present report reveals the case of a young patient in which this differential diagnosis was challenging, both due to difficulties in accessing specific exams and the overlapping of diseases that made his diagnosis hard, and describes the disease distribution in his family. This patient is part of a broader research project approved by the Research Ethics Committee of the Universidade do Estado do Amazonas under approval number 7.108.530 and CAAE 55200322.5.3009.516.

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ABCIC

Original Article

Multimodal Evaluation of Cardiac Myosin Inhibitor Response in Obstructive Hypertrophic Cardiomyopathy Using Echocardiography and Cardiopulmonary Exercise Testing: A Meta-Analysis A Meta-Analysis

João Victor de Oliveira Ramos et al. João Vitor Andrade Fernandes Luiz Henrique Cartaxo Fernandes Vera Louise Freire de Albuquerque Figueiredo … João Victor Oliveira Estrela Marcelo Tavares

Abstract

Background:

Cardiac Myosin Inhibitors (CMIs), including mavacamten and aficamten, represent a novel class of targeted therapies for obstructive Hypertrophic Cardiomyopathy (oHCM). Their effects on echocardiographic parameters and cardiopulmonary performance across Randomized Controlled Trials (RCTs) have not yet been systematically synthesized.

Objectives:

To conduct a systematic review and meta-analysis of RCTs in accordance with the PRISMA guidelines.

Methods:

Primary echocardiographic outcomes included Left Ventricular Ejection Fraction (LVEF), Left Ventricular Mass Index (LVMI), Interventricular Septal Thickness (IVST), E/e’ septal ratio, and resting, Valsalva, and post-exercise Left Ventricular Outflow Tract gradients (LVOT-G). Cardiopulmonary Exercise Testing (CPET) outcomes were also assessed. Data were pooled using random-effects models and reported as Mean Differences (MDs) or Standardized Mean Differences (SMDs), with 95% Confidence Intervals (CIs).

Results:

Five RCTs comprising 767 participants were included. CMIs significantly reduced resting LVOT-G (MD: −37.59 mmHg), Valsalva gradients (MD: −46.45 mmHg), and post-exercise gradients (MD: −49.45 mmHg; all p < 0.01). Reverse cardiac remodeling was reflected by reductions in LVMI (MD: −11.96 g/m²), IVST (SMD: −0.98), and E/e' septal ratio (MD: −3.53), along with an expected modest reduction in LVEF (MD: −4.33%). CPET outcomes also improved significantly, including ventilatory efficiency (MD: −2.25), peak metabolic equivalents (METs) (MD: +0.45), peak circulatory power (MD: +482.78 mL/kg/min × mmHg), and exercise duration (MD: +0.88 min; all p < 0.01). Subgroup analyses revealed no significant differences between the agents.

Conclusion:

CMIs promote reverse cardiac remodeling, improve hemodynamics, and enhance exercise tolerance in patients with oHCM, supporting their role as disease-modifying targeted therapies.

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IJCS

Editorial

Cardiac Myosin Inhibitors in Patients with Hypertrophic Cardiomyopathy

Marcelo Imbroinise Bittencourt et al. Ricardo Mourilhe-Rocha

In recent years, we have witnessed a significant shift in the management of symptomatic Hypertrophic Cardiomyopathy (HCM). For decades, treatment relied on medications that provided hemodynamic support without directly addressing sarcomeric hypercontractility, the primary pathophysiological driver of the disease. The emergence of Cardiac Myosin Inhibitors (CMIs), particularly mavacamten and aficamten, has transformed this landscape.^, In an article published in this issue of the International Journal of Cardiovascular Sciences, Fogaça PHT et al. present an updated systematic review and meta-analysis that reinforces the efficacy of this class of medications while providing important insights into their effects in both obstructive and non-obstructive HCM.

The study pooled data from six randomized controlled trials. Five included patients with obstructive HCM, whereas one – the MAVERICK-HCM trial – included patients with non-obstructive HCM.^,,- The inclusion of non-obstructive patients represents a distinctive aspect of this analysis, as the benefits of CMIs in the absence of left ventricular outflow tract (LVOT) obstruction remain less well established.

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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

Original Article

Efficacy of Cardiac Myosin Inhibitors in Symptomatic Hypertrophic Cardiomyopathy: An Updated Meta-Analysis and Systematic Review

Pedro Henrique Tavares Fogaça et al. Gabriel Grando Alves Camila Sales Sales Fagundes Fernanda Lavarda Scheinpflug … João Candido Tavares Fogaça Mateus Diniz Marques

Abstract

Background:

This study evaluates the efficacy of cardiac myosin inhibitors (CMI), which appear to be an innovative alternative for hypertrophic cardiomyopathy (HCM), a disease lacking highly effective pharmacologic treatments.

Objective:

To provide updated efficacy data on CMI (aficamten or mavacamten) in symptomatic HCM.

Materials and methods:

We searched PubMed, Embase, and Cochrane databases for randomized controlled trials comparing CMI to placebo in symptomatic HCM, reporting: (1) New York Heart Association (NYHA) functional class improvement; (2) change from baseline in Kansas City Cardiomyopathy Questionnaire clinical summary score (KCCQ-CSS); (3) percent change from baseline in left ventricular outflow tract (LVOT) gradient at rest and after Valsalva maneuver; and (4) serious adverse events. Heterogeneity was examined with I² statistics, and p values < 0.05 indicated sta tistical significance. Continuous endpoints were analyzed using pooled mean difference (MD), and binary endpoints were analyzed using odds ratios (OR), both with 95% confidence intervals (CI).

Results:

We included six RCTs with 826 patients, 443 of whom received CMI. Compared to placebo, NYHA class improvement was more frequent in patients receiving CMI (OR: 4.10; 95% CI: 2.79 to 6.02; p < 0.00001), with significant differences in KCCQ-CSS change (MD: 7.15; 95% CI: 4.21 to 10.10; p < 0.00001), as well as in LVOT gradient change at rest (MD: −38.25; 95% CI: −46.76 to −29.74; p < 0.00001) and after Valsalva maneuver (MD: −46.49; 95% CI: −54.70 to −38.27; p < 0.00001). There were no significant differences in serious adverse events (OR: 0.64; 95% CI: 0.31 to 1.31; p = 0.22).

Conclusion:

CMI shows greater efficacy than placebo in treating symptomatic HCM.

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ABC

Review Article

Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement

Giovanna Napolitano Pereira Ribeiro et al. Layara Fernanda Vicente Pereira Lipari Paula Mendonça Senra Lucas Vieira Lacerda Pires … Marjorie Hayashida Mizuta Natália Quintella Sangiorgi Olivetti Vera Demarchi Aiello José Eduardo Krieger

Abstract

Danon disease (DD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the lysosome-associated membrane protein 2 (LAMP2) gene. It primarily manifests as hypertrophic cardiomyopathy, myopathy, intellectual disability, and retinopathy, with males typically experiencing a more severe and early-onset phenotype. The pathophysiology of DD is linked to defective autophagy due to LAMP2 deficiency, leading to the accumulation of glycogen-filled vacuoles within cardiomyocytes and other tissues. This results in progressive cardiac hypertrophy, conduction abnormalities, and eventual heart failure, often necessitating heart transplantation. Skeletal muscle involvement is common in males, while cognitive impairments are observed in both genders, though more prevalent in males. Diagnosis is challenging due to the condition’s rarity and variable presentation, highlighting the need for a multidisciplinary approach, including genetic testing for definitive diagnosis. Genetic testing must be performed only after proper genetic counseling is done. Differential diagnosis must be considered when DD is suspected, depending on the signs and symptoms, such as Fabry disease, PRKAG2, Pompe disease, and others. Management strategies currently focus on symptomatic treatment, with cardiac transplantation as a critical intervention for advanced cases. Emerging therapies, such as gene therapy targeting LAMP2, could help in altering disease progression. This review provides a comprehensive overview of DD, discussing its clinical manifestations, underlying mechanisms, diagnostic challenges, and potential therapeutic approaches in improving outcomes. Our goal is to increase the recognition of DD so that the prevention of possible complications and early diagnosis becomes feasible, ultimately leading to more favorable patient outcomes.

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ABCIC

Editorial

Hypertrophic Cardiomyopathy: Standardization of Echocardiographic Assessment in an Era of New Therapies

Marcelo Goulart Paiva

Hypertrophic cardiomyopathy (HCM) has become the most common inherited myocardial disease, with an estimated global prevalence between 1:200 and 1:500. Despite its relatively high frequency in the general population, the disease remains significantly underdiagnosed. Only about 15% of affected individuals are clinically identified, due mainly to the wide variability of phenotypes and clinical manifestations.^, Slightly more than half of patients may develop progressive symptoms or experience adverse events throughout their lifetime. Early identification, risk stratification, and cardiovascular therapies and interventions have reduced mortality rates to < 1.0% per year.

The pathophysiology of HCM is based on myocardial hypertrophy in the absence of secondary causes, associated with hypercontractility and diastolic dysfunction, resulting from abnormal myosin activation. Approximately 75% of patients present with left ventricular outflow tract (LVOT) obstruction at rest or after provocative maneuvers. In the absence of an obstructive pattern, the disease course is usually favorable, oligosymptomatic, or asymptomatic, with a minority progressing to advanced stages.^–

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ABC

Editorial

Genetic Testing in Hypertrophic Cardiomyopathy: Expanding Global Representation While Refining Interpretation

Fernando Rabioglio Giugni

Hypertrophic cardiomyopathy (HCM) represents a paradigmatic example of how genetics has transformed contemporary cardiovascular medicine. Advances in sequencing technologies over the past two decades have substantially expanded molecular diagnosis, family screening, and risk stratification strategies. However, much of the current evidence derives from North American and European cohorts, with comparatively limited representation of Latin American populations. In this context, studies describing the genetic and clinical characteristics of Brazilian patients are particularly important, both to broaden global understanding of HCM and to support the development of precision cardiology within diverse healthcare settings.

In this issue, Beuren et al. report genetic and phenotypic findings from patients with HCM and their relatives recruited at a tertiary center in southern Brazil. Consistent with prior literature, variants in sarcomeric genes—particularly MYH7 and MYBPC3—accounted for nearly half of the cases. These observations reinforce a central message repeatedly demonstrated across populations: despite substantial genetic heterogeneity, sarcomeric disease remains the dominant biological substrate of HCM.^– Importantly, studies conducted outside traditionally studied populations are essential to ensure equitable implementation of cardiovascular genomics and to understand potential regional variation in genetic architecture.

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ABCIC

Case Report

Hemodynamic Impact of Hypertrophic Cardiomyopathy at Rest and During Supine Bicycle Exercise: Additional Value of Postprandial Assessment

Marília Esther Benevides Abreu et al. Tereza Cristina Pinheiro Diógenes Isadora Sucupira Machado Chagas Humberto Mororó Xerex José Sebastião De Abreu

Abstract

A patient with severe, symptomatic hypertrophic cardiomyopathy (HCM) without a significant left ventricular outflow tract (LVOT) gradient at rest requires further evaluation. During exercise echocardiography (EE) performed on a supine bicycle, a latent or underestimated dynamic obstruction may be identified in real time, with postprandial assessment being particularly relevant.

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ABC

Editorial

Prevalence of Hypertrophic Cardiomyopathy in Brazil: What is Our Reality?

Silvia Moreira Ayub-Ferreira

Hypertrophic cardiomyopathy (HCM) is a hereditary heart disease whose prevalence is underestimated in several regions of the world. In Brazil, this challenge is also significant, especially given the country’s population heterogeneity. In this issue, we highlight a pioneering study that investigated the occurrence of the echocardiographic phenotype of HCM in the ELSA-Brasil cohort.1

For those unfamiliar, the Brazilian Longitudinal Study of Adult Health (ELSA-Brasil) is a large, multicenter cohort study designed to investigate risk factors for obesity, diabetes, and cardiovascular diseases in Brazilian public servants from large urban centers, aged 35 to 74 years.

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ABC

Original Article

Genetic and Clinical Characterization of a South-Brazilian Hypertrophic Cardiomyopathy Cohort

Thais Beuren et al. Fernando Scolari Fernanda Sperb-Ludwig Filipe Ferrari … Arthur Rossi Rafael Zawislak Peter van Tintelen Ricardo Stein

Abstract

Background

Hypertrophic cardiomyopathy (HCM) is the most common monogenic heart disease, characterized by genetic and phenotypic heterogeneity. Although extensively studied in North American and European populations, data from Brazil remain limited.

Objectives

To characterize the genetic and clinical profiles of a Southern Brazilian cohort of HCM patients and their relatives using massive parallel sequencing.

Methods

In this observational study, HCM patients and first-degree relatives were recruited from outpatient cardiology clinics. Clinical and imaging data were collected, and genetic analysis used a 100-gene panel. Variant pathogenicity was assessed according to American College of Medical Genetics and Genomics criteria, and statistical analyses were performed using R software.

Results

Eighty individuals were included in the final analysis (mean age: 49.2 ±18.5); 60% male; 40 index cases and 40 affected relatives). MYH7 and MYBPC3 were the most frequently related genes, with pathogenic / likely pathogenic variants (P/LP) identified in 33% and 16% of participants, respectively. No pathogenic TNNT2 variants were detected. Ninety percent of participants carried an identified variant (including variants of uncertain significance), with 68% harboring P/LP variants. MYH7 carriers exhibited a higher proportion of left ventricular outflow tract obstruction, whereas MYBPC3 carriers had a higher proportion of arrhythmic events and earlier diagnosis; however, these differences did not reach statistical significance and should be interpreted as exploratory. Clinical comparisons revealed regional differences, suggesting the potential impact of genetic diversity on the presentation of HCM in this part of Brazil.

Conclusions

This study offers the first detailed genetic and clinical characterization of a Brazilian HCM cohort using massive parallel sequencing. Our findings underscore the importance of genetic testing for diagnosis, risk stratification, and management.

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IJCS

Original Article

Long-Term Clinical Outcomes of Catheter Ablation in Hypertrophic Cardiomyopathy and Atrial Fibrillation: A Systematic Review and Meta-Analysis

Acácio Fernandes Cardoso et al. Fernanda Cristina Poscai Ribeiro Luiz Claudio Behrmann Martins Glaucylara Reis Geovanini … Cynthia Aparecida da Silva Rocha Nemer Luiz Pichara Áleff Mascarenhas da Silva

Abstract

Background:

Patients with hypertrophic cardiomyopathy (HCM) are at increased risk of atrial fibrillation (AF). However, the benefits of catheter ablation (CA) for reducing adverse clinical outcomes in this population are not well established.

Objective:

To assess the long-term impact of CA on clinical outcomes in patients with HCM and AF through a systematic review and meta-analysis.

Methods:

Controlled studies of patients with HCM and AF undergoing CA were identified through PubMed/MEDLINE, Embase, LILACS, and Cochrane. Meta-analysis employed a random-effects model in R Studio, version 4.3.2, with p < 0.05 considered significant.

Results:

Four retrospective cohort studies met inclusion criteria, all with long follow-up period (5.52 ± 0.91 years). Arrhythmia-free survival after multiple CA ranged from 36.3% to 82%. Combined event analysis (mortality, stroke, and heart failure) yielded odds ratio 0.22 (95% confidence interval 0.08 to 0.60; p < 0.05; I² = 64%). In individual analysis, only heart failure hospitalizations were significantly lower in the CA group (odds ratio 0.32; 95% confidence interval 0.13 to 0.82; p = 0.01).

Conclusions:

This study suggests that CA may improve clinical outcomes in patients with HCM and AF, particularly by improving heart failure hospitalizations. Studies with greater methodological rigor are needed to prove this hypothesis, since only four studies were included in this systematic review.

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ABC

Original Article

Prevalence and Characterization of the Hypertrophic Cardiomyopathy Phenotype Assessed by Echocardiography in an Adult Brazilian Population: The ELSA-Brasil Study

Amadeu Antonio Bertuol Filho et al. Alexandre da Costa Pereira Angela Barreto Santiago Santos Antonio Luiz Pinho Ribeiro … Bruce Bartholow Duncan Eduardo Gatti Pianca Fernando Luis Scolari Murilo Foppa

Abstract

Background

Hypertrophic cardiomyopathy (HCM) is a genetically inherited cardiac disease with significant clinical impact. Although its epidemiology is well described in developed countries, the prevalence of HCM in Latin American populations remains poorly defined.

Objective

To estimate the prevalence of the HCM phenotype and describe its clinical and echocardiographic characteristics in a large adult Brazilian cohort.

Methods

The ELSA-Brasil study is a multicenter cohort including 15,105 active and retired public servants aged 35-74 years at baseline. Comprehensive clinical data collection was conducted at each investigation center. Baseline echocardiographic examinations were reviewed, and participants were classified as having Definitive HCM if established diagnostic criteria were met. The prevalence of HCM and its 95% CI were calculated. Individuals meeting borderline criteria were classified as Possible HCM. A p-value < 0.05 was considered statistically significant.

Results

Among 3,267 participants who underwent echocardiography at baseline (mean age 64 ± 9 years; 53% women), five individuals met diagnostic criteria for HCM, of whom 80% were women. The estimated prevalence of HCM was 0.15% (95% CI, 0.05%-0.36%). Three participants exhibited a septal hypertrophy phenotype, and all cases of Definitive HCM showed abnormal electrocardiographic findings. A total of 19 additional participants were classified as Possible HCM, with no statistically significant differences compared with the Definitive HCM group.

Conclusion

The prevalence of HCM in this Brazilian cohort was approximately 1.5 per 1,000 individuals, consistent with rates reported in other populations. Most cases of HCM occurred in women and were frequently associated with metabolic conditions. These findings provide novel data on the epidemiology and clinical profile of HCM in Brazil and highlight the need for further research on genetic cardiomyopathies in Latin America.

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ABCIC

Editorial

Tips and Pitfalls on the Role of Echocardiography in Percutaneous Intervention for Hypertrophic Cardiomyopathy

Claudio Henrique Fischer et al. Alessandra Joslin Oliveira

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetic heart disease, affecting approximately 1 in 500 individuals in the general population,^– with asymmetric septal hypertrophy as the most common phenotype. In obstructive HCM (oHCM), clinical relevance is greater due to its association with atrial fibrillation, heart failure, thromboembolic events, arrhythmias, and sudden cardiac death.^, For patients who remain symptomatic despite optimized medical therapy, septal reduction has become an established strategy, with surgical septal myectomy as the gold standard. Alcohol septal ablation is an alternative when surgical risk is prohibitive, there are contraindications to surgery, advanced age, or favorable coronary anatomy; it should be performed in experienced centers.^– Other percutaneous approaches — such as radiofrequency septal ablation, the use of coils, or liquid embolic agents — have also been described.

Echocardiography plays a central role throughout the management of oHCM undergoing percutaneous intervention. Beyond diagnosis, it is essential for periprocedural guidance and for postoperative assessment. Understanding its capabilities and recognizing potential pitfalls are critical to success. This editorial offers practical tips for echocardiographers and highlights key points that, if overlooked, may compromise outcomes.

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ABCHF

Case Report

Septal Artery Embolization with EVOH in Obstructive Hypertrophic Cardiomyopathy Associated with Percutaneous Treatment of Coronary Disease

Victor Tavares Trindade et al. Núbia Andrade Silva Nassandro Machado Garcia Júnior Anna Luiza Souza … Maurício Lopes Prudente Giulliano Gardenghi

Introduction

Hypertrophic cardiomyopathy (HCM) is the most common genetic heart disease. It has an autosomal dominant inheritance pattern, and to date, 11 genes have been identified among the 1400 mutations involved in its pathogenesis. The most common are the β-myosin heavy chain (MYH7), myosin-binding protein C (MYBPC3), and troponin T (TNNT2), which encode cardiac sarcomeric proteins. Three mutations are involved in its pathophysiology: missense, insertions, and deletions. The most common mutation is missense, which causes a punctual exchange between two nucleic acids, resulting in a change in the nucleotide conformation, leading to the formation of a codon that codes for a different amino acid.^,

HCM promotes changes in cardiac structure, with left ventricular hypertrophy (LVH) without another underlying etiology being the most common anatomical alteration. Its symptomatology varies according to the HCM profiles, and can present asymptomatically, with minor symptoms such as dyspnea on exertion, precordialgia, fatigue, presyncope and syncope, or in a severe form, evolving with advanced heart failure (HF), ventricular and atrial arrhythmias, and even sudden cardiac death.^,

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ABCIC

Review Article

My Approach to Diagnose Fabry Disease

Sandra Marques e Silva

Abstract

Fabry disease (FD) is an inherited lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A (α-Gal A). This enzymatic defect leads to the cytoplasmic lysosomal accumulation of globotriaosylceramides (GB3 and LysoGB3), resulting in multisystemic clinical manifestations. Cardiovascular involvement, often mimicking hypertrophic cardiomyopathy, is the main determinant of morbidity and mortality, due to the development of arrhythmia, myocardial ischemia, and heart failure. Although FD is a rare condition in the general population, the availability of specific enzyme replacement therapy, which can alter the natural course of the disease, underscores the importance of including FD as a key differential diagnosis among storage cardiomyopathies. Diagnostic evaluation should encompass a thorough clinical assessment, with particular attention to patient history and physical examination, complemented by laboratory testing and imaging studies, such as electrocardiography and echocardiography. Cardiac magnetic resonance imaging, including late gadolinium enhancement and T1 and T2 parametric mapping, provides additional diagnostic and prognostic information and should ideally be performed at the time of initial diagnosis. Definitive diagnosis is established by genetic sequencing of the GLA gene, located on the long arm of the X chromosome, enabling the selection of the most appropriate therapeutic strategy for each patient.

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ABCIC

Original Article

Hypertrophic Cardiomyopathy: Analysis of Septal Thickness with Gradient Reduction in Patients Undergoing Radiofrequency Septal Ablation

Andrea de Andrade Vilela et al. Mariane Higa Shinzato Bruno Pereira Valdigem Antonio Tito Paladino … Edileide de Barros Correia Jorge Eduardo Assef

Abstract

Background:

Hypertrophic obstructive cardiomyopathy (HOCM) is an autosomal dominant genetic disorder. Invasive treatment for intraventricular gradient reduction is indicated in patients (p) who are refractory to clinical treatment with gradient ≥ 50 mmHg. Radiofrequency ablation (RFA) is one of the current options for invasive management.

Objectives:

To evaluate the correlation between interventricular septal diameter and procedural success, defined as immediate post-procedural gradient reduction, improvement in functional class (FC), and sustained gradient reduction at 6-month follow-up.

Methods:

Twenty-two patients with HOCM were included. Transthoracic echocardiography was performed before and six months after RFA, while transesophageal echocardiography (TEE) was carried out intraprocedure.

Results:

The mean age was 56.64 years (± 12.23), with 68.18% of patients being female and 73% hypertensive. An immediate gradient reduction greater than 50% was observed in 72.7% of patients. At the 6-month follow-up, 60% of patients showed a ≥ 50% gradient reduction along with an improvement in FC. A median septal thickness of 18 mm was associated with greater procedural success compared to a median of 15 mm, and no significant change in septal thickness was observed over the 6-month follow-up period.

Conclusion:

Radiofrequency septal ablation (RFSA) is an effective and safe technique for the invasive management of HOCM. The procedure enables a significant reduction in the intraventricular gradient, accompanied by improved FC and sustained short-term results. Thicker septal were associated with greater intraprocedural gradient reductions; however, there was no reduction in thickness during the 6-month follow-up.

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ABC

Original Article

Brazilian Multicenter Registry of Alcohol Septal Ablation for Patients with Symptomatic Hypertrophic Obstructive Cardiomyopathy – BRASA Registry

Pedro Jallad et al. Marilia Soliani Pedro Henrique Almeida Marins Fábio Fernandes … Edmundo Arteaga-Fernandez Vagner Madrini Pedro Lemos Neto Charles Mady Felix Ramires Alexandre A. Abizaid Fábio Sândoli de Brito Jr Henrique Barbosa Ribeiro

Abstract

Background

Alcohol septal ablation (ASA) is an alternative to surgical myectomy for patients with symptomatic hypertrophic obstructive cardiomyopathy (HOCM) and significant left ventricular (LV) outflow tract (LVOT) obstruction. Although widely studied worldwide, data on ASA outcomes in Brazil are still limited.

Objective

To assess the safety and effectiveness of ASA in symptomatic HOCM patients receiving optimal medical therapy using current techniques across multiple centers in Brazil.

Methods

Patients with HOCM and angina (classified by the Canadian Cardiovascular Society [CCS]) or dyspnea (classified by the New York Heart Association [NYHA]) class >II who did not respond to optimal medical treatment were included. The primary efficacy endpoint was defined as a reduction of more than 50% in the maximum resting LVOT gradient, with a final gradient <50 mmHg. Patients were classified as responders or nonresponders. A p-value <0.05 was considered statistically significant.

Results

A total of 41 patients (median age 66.4 years; 73% female) underwent ASA. At baseline, 93.2% were in NYHA class III/IV or CCS class III/IV. The mean LV ejection fraction (LVEF) was 66.4%, and the mean LVOT gradient was 88.4 mmHg. After 12 months, 92.8% had improved to NYHA class I/II or CCS class I/II (p<0.01). The mean LVOT gradient dropped from 88.4 mmHg to 27.0 mmHg (p=0.003), and interventricular septum (IVS) thickness decreased from 19.3 mm to 14.7 mm (p=0.048). Responders had lower baseline gradients (73.4 vs 112.6 mmHg, p=0.04) and fewer hospitalizations (21.1% vs 82.4%, p=0.04). Complete atrioventricular block occurred in 16.7% of patients, and 4.8% required pacemakers. No deaths were reported during a median follow-up of 394 days. At the last in-person evaluation, 78.4% were in functional class I/II.

Conclusions

ASA is a safe, effective option for relieving symptoms in selected HOCM patients. It reduces LVOT gradient and septal thickness. Patients with higher baseline gradients were less likely to respond to the procedure.

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ABC

Editorial

Hypertrophic Cardiomyopathy in Brazil: Advances in Knowledge and Clinical Implications

Danielle Louvet Guazzelli et al. Mônica Samuel Avila

Hypertrophic cardiomyopathy (HCM) is the most prevalent genetically determined heart disease and remains a diagnostic and prognostic challenge. The estimated prevalence of this condition in the general population is approximately 1 case per 200 individuals. In Brazil, it is estimated that 400,000 people are affected.

The natural history of HCM is heterogeneous, with an unpredictable course that may manifest from childhood to the eighth decade of life. The disease also exhibits phenotypic heterogeneity, with two main clinical forms: left ventricular outflow tract obstruction (LVOTO) and non-obstructive.

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ABC

Editorial

Non-sustained Ventricular Tachycardia and Hypertrophic Cardiomyopathy: When to Consider it as a Risk Factor for Sudden Death and Total Mortality?

Lucas Simonetto Faganello et al. Mauricio Pimentel

Hypertrophic cardiomyopathy (HCM) is an important cause of sudden cardiac death (SCD), particularly in young patients.^, The implantation of an implantable cardioverter-defibrillator (ICD) in high-risk patients is a pivotal aspect of HCM treatment. However, there are currently no randomized clinical trials to guide the selection of patients who are candidates for ICD implantation. Recommendations are based on retrospective cohorts that have identified the relationship between clinical characteristics and prognosis. Risk factors for SCD include history of syncope or ventricular tachyarrhythmia, family history of sudden death, left ventricular wall thickness, systolic dysfunction, apical aneurysm, late enhancement on magnetic resonance imaging, and the presence of non-sustained ventricular tachycardia (NSVT).

NSVT occurs in 20-30% of patients with HCM and is an independent predictor of SCD.^– However, the strength of this evidence varies among published observational studies, often due to differences in the studied populations or diagnostic criteria. Research conducted in tertiary centers indicates that the presence of NSVT is associated with a higher risk of SCD, while studies from non-reference centers have not identified a statistically significant association. Another point of discussion is the characteristics of NSVT that should be considered. While the American guideline places greater emphasis on more frequent, longer, and faster arrhythmias, the European guideline argues that there is no robust evidence to support this.^, The Brazilian guideline considers NSVT relevant when it is frequent (≥ 3), longer (≥ 10 beats), and faster (≥ 200 beatsper minute).

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ABCHF

Review Article

Filamin C and Cardiomyopathies: Linking Genetic Variants to Their Phenotypic Impact

Natália Olivetti et al. Márya Pagotti Bruno Moreira Santos Marjorie Mizuta … Bianca Linnenkamp Paula de Mendonça Senra Fernanda Andrade Mariana Lombardi Peres de Carvalho Luciana Sacilotto José Eduardo Krieger

Abstract

Filamin C (FLNC) plays a critical role in maintaining the structural integrity of muscle cells, particularly within the cardiac sarcomere. Pathogenic variants in the FLNC gene are increasingly recognized as significant contributors to a diverse range of cardiomyopathies, including dilated (DCM), hypertrophic (HCM), arrhythmogenic (ACM), and restrictive cardiomyopathy (RCM). This review explores the genotype-phenotype correlations in FLNC-related cardiomyopathies, emphasizing how the type and location of genetic variants influence the clinical presentation. Truncating variants are primarily associated with DCM and ACM, characterized by a high risk of arrhythmic events and severe outcomes, while missense variants often lead to HCM and RCM, with unique phenotypic features. The review also discusses the inheritance patterns, molecular mechanisms, and clinical phenotypes of FLNC-associated myopathies, highlighting the need for genetic testing in risk stratification and management. Future perspectives emphasize the importance of expanding research into the underlying mechanisms of FLNC variants and their interactions with other genetic and environmental factors. This integrated understanding is critical for improving the clinical management of patients with FLNC-related cardiomyopathies.

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ABCHF

Review Article

Genetic Cardiomyopathies: An Overview of the Main Associated Pathogenic Mutations

Flavia Misawa Hama et al. Edson Gabriel Rocha Estela Azeka

Abstract

Cardiomyopathies are pathological conditions associated with progressive dysfunction of cardiomyocytes, excluding situations in which other concomitant diseases may justify such progression. Their presentations can evolve with several phenotypes, the main ones being hypertrophic, dilated, restrictive, non-compacted, and arrhythmogenic phenotypes of the right ventricle (). Regarding this topic’s relevance, dilated and hypertrophic cardiomyopathies have a genetic origin in 30 to 50% of cases, evaluating these etiologies is a crucial tool in patient management. Assessing the risk of genetic transmission and the likelihood of phenotypic manifestation across generations requires identifying and classifying each gene’s inheritance pattern and mutation type associated with structural cardiomyopathy. Additionally, determining the structural protein affected facilitates understanding the pathophysiological phenomenon and the phenotype manifested by the variant carrier. Considering the growing advent of the genetic approach to cardiomyopathies, the Heart Failure Society of America, in collaboration with the American College of Medical Genetics and Genomics, developed a guide for the investigation and follow-up of these cases. However, in this study, the time to request the genetic tests was not evaluated. It is recommended that the tests be requested at any time after diagnosis confirmation since their results can contribute to guiding the most appropriate follow-up approach. Despite the multitude of existing variants related to genetic cardiomyopathies, some are of greater clinical interest due to their impact on risk stratification and interest in family screening, namely: MYH7, PRKAG2, MYBPC3, GLA, LAMP2, TTN, DSP, MYH7, FLNC, LMNA, DSP, MYBPC3 and Troponin Complex (). Recognizing the main mutations associated with cardiomyopathies and the phenotypes related to them enables a more individualized medicine approach with early interventions and risk stratification. Genetic evaluation is essential for screening family members and optimizing patient management, which may vary depending on the identified mutation.

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