Explanipedia

Dilated Cardiomyopathy and Sensorimotor Polyneuropathy Associated with a Homozygous ELAC2 Variant: A Case Report and Literature Review Open

Francesco Ravera, Filippo Angelini, Pier Paolo Bocchino, Gianluca Marcelli, Giulia Gobello , et al. · 2025

Variants in ELAC2, a gene encoding the mitochondrial RNase Z enzyme essential for mitochondrial tRNA processing, have been associated with severe pediatric-onset mitochondrial dysfunction, primarily presenting with developmental delay, hyp…

A Vision Transformer Model for the Prediction of Fatal Arrhythmic Events in Patients with Brugada Syndrome Open

Vincenzo Randazzo, Silvia Caligari, Eros Pasero, Carla Giustetto, Andrea Saglietto , et al. · 2025

Brugada syndrome (BrS) is an inherited electrical cardiac disorder that is associated with a higher risk of ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients without structural heart disease. The diagnosis is based o…

Cardiovascular Involvement in SYNE Variants: A Case Series and Narrative Review Open

Francesco Ravera, Veronica Dusi, Pier Paolo Bocchino, Giulia Gobello, Giuseppe Giannino , et al. · 2025

Cardiac laminopathies encompass a wide range of diseases caused by defects in nuclear envelope proteins, including cardiomyopathy, atrial and ventricular arrhythmias and conduction system abnormalities. Two genes, namely LMNA and EMD, are …

Distinct Substrates of Idiopathic Ventricular Fibrillation Revealed by Arrhythmia Characteristics on Implantable Cardioverter-Defibrillator Open

Michel Haı̈ssaguerre, Jean‐Marc Sellal, Karim Bénali, Benjamin De Becker, Pascal Defaye , et al. · 2024

Does physical activity influence Brugada pattern at 12-lead holter 24-hour monitoring? Open

F Tarditi, Elisabetta Toso, Emanuele Koumantakis, Marcella Jorfida, Gianfranco Alunni , et al. · 2024

Introduction Brugada Syndrome (BrS) is a hereditary ion channel disease predisposing young patients to sudden death, characterized by a dynamic electrocardiogram (ECG) pattern with coved ST-segment elevation in right precordial leads, ofte…

Cardiac implantable electronic devices following orthotopic heart transplantation: insights on indications and outcomes from a single centre experience Open

Davide Castagno, G Pulvirenti, P Soro, Federico Ferraris, Matteo Anselmino , et al. · 2024

Background Need for cardiac implantable electronic devices (CIED) after orthotopic heart transplantation (OHT) ranges from 7 to 24% of cases depending on several patient and procedural related factors. Purpose The aims of this study were t…

A COMPLEX CASE OF EARLY ONSET ATRIAL FIBRILLATION IN AN ENDURANCE ATHLETE: THE IMPORTANCE OF FAMILY HISTORY Open

A. Solano, L. Tallone, E Bertello, P Berruquier, Andrea Saglietto , et al. · 2024

Introduction Early onset atrial fibrillation (AF) in an endurance athlete represents a challenge for the cardiologist, especially in apparent absence of an overt structural heart disease. Different genetic variants have been associated wit…

Brugada syndrome: identification of subjects at risk and therapy Open

Fiorenzo Gaïta, Natascia Cerrato, Carla Giustetto, Lucia Garberoglio, Leonardo Calò · 2024

Brugada syndrome mainly affects young subjects with structurally normal heart and can cause x syncope or sudden death due to ventricular arrhythmias, even as the first manifestation, in approximately 5–10% of cases. To date, two questions …

ACQUIRED LQTS WITH VENTRICULAR ARRHYTMIAS IN METHADONE AND CARDIOMYOPATHY AT ONSET Open

Edoardo Roagna, Filippo Angelini, Guglielmo Gallone, Alessandro Vairo, Matteo Bellettini , et al. · 2024

Introduction Methadone is associated with QT interval prolongation and increased risk of ventricular arrhythmias such as torsade de pointes (TdP), particularly if associated with other contributing factors. The management is complex, consi…

Arrhythmic risk profile in mitral valve prolapse: A systematic review and metanalysis of 1715 patients Open

Lorenzo Pistelli, Giampaolo Vetta, Antonio Parlavecchio, Pasquale Crea, Francesca Parisi , et al. · 2023

Introduction Mitral valve prolapse (MVP) is a common clinical condition in the general population. A subgroup of patients with MVP may experience ventricular arrhythmias and sudden cardiac death (“arrhythmic mitral valve prolapse” [AMVP]) …

Artificial Intelligence ECG Analysis in Patients with Short QT Syndrome to Predict Life-Threatening Arrhythmic Events Open

Eros Pasero, Fiorenzo Gaïta, Vincenzo Randazzo, Sergio Cannata, Philippe Maury , et al. · 2023

Short QT syndrome (SQTS) is an inherited cardiac ion-channel disease related to an increased risk of sudden cardiac death (SCD) in young and otherwise healthy individuals. SCD is often the first clinical presentation in patients with SQTS.…

Asymptomatic Brugada patients: long-term prognosis from a large prospective study Open

Carla Giustetto, Fiorenzo Gaïta, Natascia Cerrato, Annamaria Martino, M Millesimo , et al. · 2023

Background One of the greatest challenges concerning the Brugada syndrome is how to stratify and manage asymptomatic patients, who represent the majority of patients with Brugada ECG pattern (BrECG). Purpose Aim of our study was to evaluat…

Asymptomatic Patients With Brugada ECG Pattern: Long-Term Prognosis From a Large Prospective Study Open

Fiorenzo Gaïta, Natascia Cerrato, Carla Giustetto, Annamaria Martino, Laura Bergamasco , et al. · 2023

BACKGROUND: Brugada syndrome poses significant challenges in terms of risk stratification and management, particularly for asymptomatic patients who comprise the majority of individuals exhibiting Brugada ECG pattern (BrECG). The aim of th…

New insights into the correlation between genotype and cardiac phenotype in laminopathies Open

Veronica Dusi, Filippo Angelini, S. Elia, S Pidello, Alessandro Vairo , et al. · 2023

Funding Acknowledgements Type of funding sources: None. Background Genotype-phenotype correlation and risk stratification for heart failure progression in patients with cardiolaminopathies are poorly defined. Purpose The primary aim of the…

Role of the implantable loop recorder in clinical practice: insights on indications, diagnostic yield and therapeutic implications from a single, high volume, tertiary care centre experience Open

Davide Castagno, Federico Ferraris, Matteo Anselmino, M Millesimo, Andrea Saglietto , et al. · 2023

Funding Acknowledgements Type of funding sources: None. Introduction Besides the established class I indication for the evaluation of patients with recurrent syncope of uncertain origin, implantable loop recorders (ILRs) have been increasi…

P88 CARDIAC INVOLVEMENT IN FOUR NOVEL NESPRIN–1 GENETIC VARIANTS Open

R Manaï, Veronica Dusi, Stefano Pidello, Filippo Angelini, Pier Paolo Bocchino , et al. · 2023

Background Nesprins are proteins encoded by synaptic nuclear envelope (SYNE)–1 and –2 genes, that concur, together with lamin A/C and emerin, to nuclear envelope function. Almost 140 disease–related variants were identified, mostly resulti…

The Brugada syndrome: risk stratification Open

Fiorenzo Gaïta, Natascia Cerrato, Andrea Saglietto, Domenico Caponi, Leonardo Calò , et al. · 2023

Thirty years after its first description, the knowledge regarding Brugada syndrome has greatly increased. Spontaneous type 1 ECG pattern (BrECG) is a well-defined prognostic marker in asymptomatic patients and is associated with a double r…

The Brugada syndrome: pharmacological therapy Open

Carla Giustetto, Natascia Cerrato, Veronica Dusi, Filippo Angelini, Gaetano Maria De Ferrari , et al. · 2023

Brugada syndrome is an inherited channelopathy with an increased risk of sudden cardiac death (SCD) due to ventricular arrhythmias (VA) and an increased incidence of supraventricular arrhythmias, as compared with the general population. Fo…

Echocardiographic Parameters to Predict Malignant Events in Arrhythmic Mitral Valve Prolapse Population Open

Alessandro Vairo, Paolo Desalvo, Andrea Rinaudo, Francesco Piroli, Anna Tribuzio , et al. · 2023

Bileaflet Mitral Valve Prolapse (bMVP) has been linked to major arrhythmic events and sudden cardiac death (SCD). Consistent predictors in this field are still lacking. Echocardiography is the best tool for the analysis of the prolapse and…

Electrocardiographic findings in patients with arrhythmogenic cardiomyopathy and right bundle branch block ventricular tachycardia Open

Mikaël Laredo, Oholi Tovia‐Brodie, Anat Milman, Yoav Michowitz, Rob Roudijk , et al. · 2023

Aims Little is known about patients with right bundle branch block (RBBB)-ventricular tachycardia (VT) and arrhythmogenic cardiomyopathy (ACM). Our aims were: (i) to describe electrocardiogram (ECG) characteristics of sinus rhythm (SR) and…

Characteristics of Patients with Spontaneous Versus Drug-Induced Brugada Electrocardiogram: Sub-Analysis From the SABRUS Open

Anat Milman, Avi Sabbag, Giulio Conte, Pieter G. Postema, Antoine Andorin , et al. · 2023

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Electrocardiographic Findings in Patients with Arrhythmogenic Cardiomyopathy and Right Bundle Branch Block Ventricular Tachycardia Open

Mikaël Laredo, Oholi Tovia‐Brodie, Anat Milman, Yoav Michowitz, Robert W. Roudijk , et al. · 2022

787 Ablation of the ventricular ectopic foci: a therapeutic option for dilated cardiomyopathy due to arrhythmic MVP Open

Lorenzo Pistelli, Carla Giustetto, Matteo Anselmino, Francesca De Lio, Federico Ferraris , et al. · 2021

Aims A subset of patients with mitral valve prolapse (MVP) are affected by a still not well understood condition characterized by frequent ventricular arrhythmias (mostly originating from papillary muscles) and sudden cardiac death (SCD). …

Incessant pericarditis as a risk factor for complicated pericarditis and hospital admission Open

Massimo Imazio, Emanuele Pivetta, Alessandro Andreis, Chiara Serra, Marco Ottino , et al. · 2021

Background Incessant pericarditis is defined as pericarditis with persistent symptoms without a symptom-free interval of 4 to 6 weeks despite therapy. On the contrary, recurrent pericarditis is characterized by recurring symptoms after a s…

Beta-blockers to control symptoms in patients with pericarditis Open

Massimo Imazio, Alessandro Andreis, A Agosti, Francesco Piroli, Matteo Casula , et al. · 2021

Background Exercise restriction is a non-pharmacological treatment of pericarditis that could reduce symptoms by slowing heart rate (HR). Beta-blockers allow pharmacological control of HR. Aim To explore the possible efficacy of beta-block…

Genotype-Phenotype Correlation of <i>SCN5A</i> Genotype in Patients With Brugada Syndrome and Arrhythmic Events: Insights From the SABRUS in 392 Probands Open

Anat Milman, Elijah R. Behr, Belinda Gray, David C. Johnson, Antoine Andorin , et al. · 2021

Background: Brugada syndrome (BrS) is associated with mutations in the cardiac sodium channel gene, SCN5A. However, genetic studies of patients with BrS with arrhythmic events have been limited. We sought to compare various clinical, ECG, …

The prevalence of left and right bundle branch block morphology ventricular tachycardia amongst patients with arrhythmogenic cardiomyopathy and sustained ventricular tachycardia: insights from the European Survey on Arrhythmogenic Cardiomyopathy Open

Bernard Belhassen, Mikaël Laredo, Rob Roudijk, Giovanni Peretto, Guy Zahavi , et al. · 2021

Aims In arrhythmogenic cardiomyopathy (ACM), sustained ventricular tachycardia (VT) typically displays a left bundle branch block (LBBB) morphology while a right bundle branch block (RBBB) morphology is rare. The present study assesses the…

Identification of novel circulating microRNAs in advanced heart failure by next‐generation sequencing Open

Alessandro Galluzzo, Simona Gallo, Barbara Pardini, Giovanni Birolo, Piero Fariselli , et al. · 2021

Aims Risk stratification in patients with advanced chronic heart failure (HF) is an unmet need. Circulating microRNA (miRNA) levels have been proposed as diagnostic and prognostic biomarkers in several diseases including HF. The aims of th…

Incessant Pericarditis as a Risk Factor for Complicated Pericarditis and Hospital Admission Open

Massimo Imazio, Emanuele Pivetta, Alessandro Andreis, Chiara Serra, Federica Carbone , et al. · 2021

Transcatheter ablation for atrial fibrillation in patients with hypertrophic cardiomyopathy: Long‐term results and clinical outcomes Open

Davide Castagno, Paolo Di Donna, Iacopo Olivotto, Antonio Frontera, Leonardo Calò , et al. · 2021

Introduction Radiofrequency transcatheter ablation (RFCA) for atrial fibrillation (AF) in patients with hypertrophic cardiomyopathy (HCM) has been proven feasible. However, the long‐term results of RFCA and its impact on clinical course of…

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