Cardiac Sudden Death – ABC CARDIOL

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Editorial

Does Early Repolarization Affect the Risk of Death and Ventricular Arrhythmias?

Early repolarization (ER) pattern, defined as J-point elevation of ≥1 mm in ≥2 contiguous inferior and/or lateral electrocardiography (ECG) leads, is a common finding, with a prevalence of approximately 6% in the adult population.^, ER has long been considered a benign phenomenon, as most affected individuals — typically young males and athletes — have a very low incidence of sudden cardiac death.^,

However, a pivotal study by Haïssaguerre et al. demonstrated a significantly higher occurrence of ER (31%) in patients with idiopathic ventricular fibrillation (VF) compared to controls (5%). Subsequent studies confirmed an association between ER and malignant ventricular arrhythmias (VA) in patients without structural heart disease.^, Additionally, ER has been linked to adverse outcomes in patients with primary electrical disorders such as long QT syndrome and Brugada syndrome.^,

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Original Article

The Many Faces of Arrhythmic Mitral Valve Prolapse: Case Series

Yasmim Evelyn Lisboa Barbosa et al. Isadora Wanderley Queiroga de Freitas Evangelista Julyana Maria Ramalho de Sousa Lorena Carvalho Leite Jales … Elisabete Louise de Medeiros Viegas Patrícia Vidal de Negreiros Nóbrega Daniel Moreira Costa Moura Gabriel Pelegrineti Targueta Lilian Amador Resende Renner Augusto Raposo Pereira Guilherme Augusto Teodoro Athayde

Abstract

Background:

Although it is frequently a benign condition, mitral valve prolapse (MVP) may be associated with an increased risk of ventricular arrhythmias (VA), a condition known as arrhythmic mitral valve prolapse (AMVP).

Objectives:

To present diverse manifestations of AMVP by means of clinical cases that illustrate these patients’ symptoms and electrocardiogram (ECG), 24-hour Holter, transthoracic echocardiogram (TTE), and cardiac magnetic resonance imaging (CMRI) findings and to discuss the decisions made in relation to different clinical outcomes.

Methods:

This retrospective, descriptive, and observational study analyzed 5 patients with AMVP treated between 2019 and 2024, investigating markers of elevated risk for severe clinical outcomes, especially sudden cardiac death (SCD).

Results:

Among the 5 patients evaluated, the most common clinical presentation was palpitations (100% of cases), followed by syncope (40%). Three patients (60%) had severe or very severe arrhythmia on 24-hour Holter monitoring, while 4 (80%) had mitral annular disjunction (MAD). Positive delayed enhancement was observed in 2 (40%) patients. In 2 cases (40%), implantable cardioverter-defibrillator (ICD) was indicated. In 1 case, mitral valve replacement was chosen, but the arrhythmias were not resolved; consequently, radiofrequency ablation was indicated. Although SCD has been described in the literature, no cases were observed in our sample.

Conclusion:

AMVP may present distinct clinical manifestations, including severe outcomes. It is essential to identify risk markers for early diagnosis and treatment of this condition, with the goal of reducing SCD-related mortality in these patients.

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ABC

Case Report

Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death

Diana Carvalho et al. Simão Carvalho Adriana Pacheco Carlos Costa … Pedro Carvalho Raquel Ferreira Ana Briosa

Introduction

Marfan syndrome (MS) is a systemic disease of the connective tissue with an autosomal dominant transmission, usually associated with a mutation in the fibrillin 1 gene (FBN1). The estimated prevalence is 6.5/100,000. According to the revised Ghent criteria, mutation in the FBN1 gene, lens ectopy, and aortic root dilation are the key factors for the diagnosis of MS.^, Life expectancy is essentially determined by cardiovascular complications, particularly aortopathy.

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ABC

Case Report

Novel Mutation in DSP Gene – A Case of Arrhythmogenic Cardiomyopathy with Isolated Left Ventricular Phenotype and High Risk of Sudden Cardiac Death

Pedro von Hafe Leite et al. Olga Azevedo Geraldo Dias Filipa Cardoso … Tamara Pereira António Lourenço

Introduction

Sudden cardiac death (SCD) in young adults (18–35 years) most commonly results from previously undiagnosed inherited cardiomyopathies. The most common causes of sudden cardiac death are hypertrophic cardiomyopathy and arrhythmogenic cardiomyopathy (ACM), followed by congenital anomalies of coronary arteries, myocarditis, aortic rupture in Marfan’s syndrome, conduction defects, and valve diseases.

ACM accounts for up to 20% of sudden cardiac death in individuals under 35 years of age. In a series of 86 victims of SCD at a young age, ACM accounted for 10.3% of the cases, being the second major cause of SCD. Dilated cardiomyopathy (DCM) is a less frequent cause of SCD in young individuals, accounting for nearly 2% of cases in athletes.

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Does Early Repolarization Affect the Risk of Death and Ventricular Arrhythmias?

The Many Faces of Arrhythmic Mitral Valve Prolapse: Case Series

Abstract

Background:

Objectives:

Methods:

Results:

Conclusion:

Marfan Syndrome, Hypertrophic Cardiomyopathy And Long QT A Rare Association Causing Sudden Death

Introduction

Novel Mutation in DSP Gene – A Case of Arrhythmogenic Cardiomyopathy with Isolated Left Ventricular Phenotype and High Risk of Sudden Cardiac Death

Introduction

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