Arrhythmogenic right ventricular dysplasia;

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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ABCIC

Review Article

My Approach To Echocardiographic Evaluation in Arrhythmogenic Cardiomyopathy

Danilo Bora Moleta et al. Cassio Carvalho Soeiro Machado Lucas Arraes de França Marcelo Luiz Campos Vieira

Abstract

Careful echocardiographic evaluation of the right ventricle, although challenging and sometimes neglected, is of utmost importance in the diagnosis of certain pathologies, such as arrhythmogenic cardiomyopathy (ACM) — a hereditary myocardial disease associated with the development of ventricular arrhythmias, heart failure, and sudden death. This article aims to review the diagnostic criteria proposed in the 2010 Task Force and the modifications suggested by the 2020 Padua criteria, as well as illustrate the potential use of advanced echocardiography techniques for earlier detection and prognostic definition.

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ABC

Case Report

Unveiling Arrhythmogenic Right Ventricular Cardiomyopathy in Scleroderma

Mehmet Rasih Sonsöz et al. Uğur Ozan Demirhan Cemal Bes

Introduction

Systemic sclerosis (SSc) patients commonly report exertional dyspnea and pulmonary hypertension should be first suspected, as the prevalence in these patients is reported to be 5-19% and it is associated with worse clinical outcomes. Additional differential diagnosis includes congenital left-to-right shunt and arrhythmogenic right ventricular cardiomyopathy (ARVC) when right ventricular dilatation and systolic dysfunction are present. Our case concerns an elderly lady with SSc who was initially diagnosed with precapillary pulmonary hypertension.

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ABCIC

Case Report

Incidental Finding of Arrhythmogenic Right Ventricular Cardiomyopathy in a 72-Year-Old Man Admitted With Acute Coronary Syndrome

Rafael Modesto Fernandes et al. Luciana Cunha Weber Vitor Queiroz de Castro Souza Mariana Baptista Guedes … Diogo Freitas Cardoso de Azevedo Marcia Maria Nova Rabelo

Introduction

Arrhythmogenic right ventricular cardiomyopathy (ARVC) – also known as arrhythmogenic right ventricular (RV) dysplasia – is a genetic disorder characterized by progressive loss of RV cardiomyocytes, which are replaced with fibrofatty tissue. This replacement may delay intraventricular conduction and contribute to ventricular arrhythmias through a fibrosis-related macro-reentry mechanism. Thus, ARVC is one of the main causes of arrhythmic cardiac arrest in young people and athletes.

Although initially designated as dysplasia, ARVC is not a congenital defect in the myocardium development. It is caused by mutations in the genes that encode desmosomal proteins, which are responsible for cell-to-cell adhesion. This discovery led to the disease being recognized as cardiomyopathy and included in the classification of cardiomyopathies by the American Heart Association.^,

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ABCHF

Review Article

Arrhythmogenic Left Ventricular Cardiomyopathy – State of Art: From Genotype to Phenotype

Ana Flavia Malheiros Torbey et al. Erivelton Alessandro do Nascimento Nágela Simão Vinhosa Nunes Adriana Bastos Carvalho … Daniel Gama das Neves Raquel Germer Toja Couto Sandra Vitória Thuler Pimentel Eduarda Corrêa Maia Evandro Tinoco Mesquita

Abstract

Arrhythmogenic cardiomyopathy with exclusive or predominant involvement of the left ventricle has been described recently. It has a heterogeneous genetic basis with different clinical phenotypes ranging from ventricular arrhythmias and sudden death (SD), symptoms suggestive of acute myocarditis with chest pain and troponin elevation, symptoms of heart failure, to asymptomatic patients. A high level of suspicion is needed for a correct diagnosis and implementation of a genotype-based therapy, to prevent its most feared complication, SD. This review aims to describe arrhythmogenic left ventricular cardiomyopathy as a genetic heart disease, with initial and/or predominant involvement of the left ventricle and its varied phenotypic expression, providing a basis for clinical reasoning and “red-flags” for the diagnosis, as well as for SD risk stratification.

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ABCIC

Case Report

Arrhythmogenic Right Ventricular Dysplasia with Right Atrial Thrombus

Clara Bernardy dos Santos et al. Angela Bolonhez Otavio Mangili

Abstract

Arrhythmogenic right ventricular dysplasia is an autosomal dominant genetic disease characterized by the progressive replacement of the myocardium with fibrous fat tissue. It is clinically characterized by arrhythmia, heart failure, syncope and, in some cases, sudden death. We report the case of a patient with such pathology, at an advanced stage, with atrial flutter and thrombus formation in the right atrial appendage, whose therapeutic option was anticoagulation and subsequent electrical cardioversion.

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ABCIC

Case Report

Arrhythmogenic Right Ventricular Cardiomyopathy in Marathon Runners: Case Report

Isabelle Adjanine Borges de Lima et al. Diego Vital Campos Ana Karolina Bento da Silva Evellyn Pereira de Melo

Introduction

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an inherited disease of the cardiac muscle characterized by right ventricular dysfunction (global or regional) with or without left ventricular (LV) involvement in the presence of histological evidence of the disease and/or electrocardiographic abnormalities according to published criteria.

ARVC has age-dependent penetrance and is mainly characterized by episodes of ventricular arrhythmia that can progress to sudden cardiac death (SCD). The estimated prevalence ranges from 1:2,000 to 1:5,000, with a predominance in the Caucasian population and in people who practice strenuous exercise or competitive sports. Despite its low prevalence, ARVC represents approximately 5–20% of CSM cases in young people.

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ABC

Image

One Patient, Two Cardiomyopathies

Christopher Strong et al. Pedro Freitas António Ferreira Gustavo Rodrigues Miguel Mendes

A 50-year-old male patient, with history of well-controlled hypertension and no known personal or family history of cardiac disease, presented with chest pain followed by syncope during strenuous physical activity. The electrocardiogram showed sustained monomorphic ventricular tachycardia. Electrical cardioversion was performed, with conversion to sinus rhythm with Q waves on leads V2-5 and III-aVF (). Transthoracic echocardiography (TTE) showed asymmetric left ventricular (LV) hypertrophy, preserved ejection fraction (EF) with apical akinesia, and hypertrabeculated right ventricle (RV). Coronary angiography showed no significant lesions. Cardiac MRI confirmed the TTE findings, showing a maximum LV wall thickness of 17 mm at the interventricular septum (Figure S1 — supplementary material), apical LV aneurysm and abnormal insertion of papillary muscles. The right side was remarkable for hypertrabeculated and hypokinetic free and inferior walls, and mildly dilated RV with reduced EF (33%). Besides having transmural delayed enhancement (DE) on the LV apex, there was also nodular DE on the LV/RV junction and on the free and inferior basal walls of the RV (; –; Figure S2 of supplementary material). Genetic analysis found a heterozygous mutation on the PKP2 gene (p.Thr50Serfs*61), a pathogenic variant associated with arrhythmogenic RV cardiomyopathy. However, no known mutation on genes related to hypertrophic cardiomyopathy (HCM) were found on a panel of 204 genes, 118 related to HCM. No association has been firmly made between mutations on the PKP2 gene and HCM. The overlap between genetics and cardiomyopathy phenotypes is a well-known phenomenon. We hypothesize that this patient either had an additional unknown HCM gene mutation or, less likely, a phenotypic expression of two different cardiomyopathies in the context a PKP2 gene mutation.

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ABC

Case Report

A Prenatal Case of Arrhythmogenic Right Ventricular Dysplasia

Lilian Maria Lopes et al. Juliana Torres Pacheco Regina Schultz Rossana Pulcineli Vieira Francisco Marcelo Zugaib

Introduction

Arrhythmogenic right ventricular dysplasia (ARVD) is a heart muscle disorder that is characterized pathologically by fibrofatty replacement of the right (and sometimes left) ventricular myocardium. In 30-90% of cases, it is an inherited condition, with an autosomal dominant form of transmission. Disease expression is variable. In this article, we discuss a rare case of fetal ARVD and its difficult prenatal diagnosis, only confirmed at post-natal autopsy.

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IJCS

Case Report

Biventricular Arrhythmogenic Cardiomyopathy: A New Paradigm?

João Augusto et al. João Abecasis Victor Gil

Abstract

Arrhythmogenic right ventricular dysplasia is a classic form of chronic myocardial disease with a broad phenotypical spectrum. We report an atypical case of a patient with biventricular arrhythmogenic cardiomyopathy. Although the current diagnosis criteria are the most widely accepted ones, they focus solely on the right ventricular phenotype. The use of late gadolinium enhancement in cardiac magnetic resonance in this patient was essential for the diagnosis and assessment of the left ventricular involvement extent. This tool allows a broader use of current diagnosis criteria for this disease.

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ABC

Case Report

Arrythmogenic right ventricular dysplasia

Rogério Ferreira da Silva et al. Karina Morgarbel Christian Moreno Luize Carla Gonçalves Rosa … Marcelo Romano Ieda Maria Liguori

Arritmogenic right ventricular dysplasia (ARVD) is characterized by the gradual replacement of myocytes by adipose and fibrous tissue. Described in 1977, is considered a potentially lethal cause of cardiac disease poorly understood. This disorder usually involves the right ventricle and has been associated with arrthymia, heart failure, and sudden death. In this paper, we report a case of a 25-years-old patient with syncope associated with ventricular extrasystoles. A magnetic resonance imaging was performed and showed findings that support ARVD diagnose.

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