Explanipedia

Brugada Syndrome: an exemplar for the genomic basis of sudden death Open

Rebecca Griffiths, Marta Futema, Elijah R. Behr · 2025

The inherited arrhythmia syndrome, Brugada Syndrome (BrS), is a leading cause of autopsy negative sudden death: the sudden arrhythmic death syndrome. Historically, BrS was believed to exhibit a Mendelian (autosomal dominant) mode of inheri…

The Clinical Significance of Atrial Fibrillation in Non–High-Risk Brugada Syndrome Open

Marco Bergonti, Frédéric Sacher, Bernard Belhassen, Georgia Sarquella‐Brugada, Elena Arbelo , et al. · 2025

The presence of AF in non-high-risk BrS does not identify patients with higher risk of VAs. However, early-onset AF (<20 years) defines a distinct subgroup with elevated risk. Patients with AF and BrS have a significantly higher risk of SS…

1-036 RIDGETM-1: a phase 1b interventional study to evaluate safety and efficacy of TN-401, an adeno-associated virus serotype 9 (AAV9) investigational gene therapy, in adults with PKP2-associated arrhythmogenic right ventricular cardiomyopathy (ARVC) Open

N.A.M. Paterson, Caroline Coats, Perry Elliott, Elijah R. Behr, Antonis Pantazis , et al. · 2025

1-030 Mainstream genetic testing in an ICC specialist centre: experience under national testing criteria Open

Pablo Martin-Marin, James Dargan, Chris Miles, Michael Papadakis, Elijah R. Behr , et al. · 2025

Novel start codon variant in the 5’UTR of LDLR associated with familial hypercholesterolaemia Open

Martin Bird, Chang-Shung Tung, Alan Pittman, Elijah R. Behr, Axel Nohturfft , et al. · 2025

Familial hypercholesterolaemia (FH) is a genetic disorder due to pathogenic variants in LDLR , APOB , and PCSK9 genes, characterised by elevated low-density lipoprotein cholesterol (LDL-C) concentration and a significantly increased risk o…

Clinical care of family members of patients with dilated cardiomyopathy Open

Job A.J. Verdonschot, Juan Pablo Kaski, Folkert W. Asselbergs, Elijah R. Behr, Philippe Charron , et al. · 2025

Genetic family screening following the detection of a pathogenic or likely pathogenic variant in a proband with dilated cardiomyopathy (DCM) remains one of the main applications of genetic testing. While cardiac screening is recommended fo…

Accumulating evidence for epicardial ablation in malignant forms of Brugada syndrome: summary of two randomized clinical trials Open

Pieter G. Postema, Elijah R. Behr, Arthur A.M. Wilde · 2025

High incidence of malignant arrhythmias and heart failure in patients with RBM20-associated cardiomyopathy: A multicenter cohort study and review of the literature Open

Martijn Tukker, Wouter P. te Rijdt, Ahmad S. Amin, Déborah Morris-Rosendahl, Alexander Hirsch , et al. · 2025

This multicenter study highlights the severe phenotype associated with LP/P RBM20 variants, with a high incidence of VA, particularly in males. Additionally, this study presents 11 truncating variants mainly observed in older individuals.

Exercise and phenotypic progression in arrhythmogenic cardiomyopathy Open

T Minopoli, D. Tardo, Mihnea Casian, A Petrone, L Dei , et al. · 2025

Background Intense exercise may exacerbate disease expression in arrhythmogenic cardiomyopathy (ACM). Natural history and phenotypic progression of ACM is still poorly understood. Purpose The aim of the study was to investigate the impact …

aTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS study Open

Marco Bergonti, Vincent Probst, Hiroshi Morita, Jacob Tfelt‐Hansen, Elijah R. Behr , et al. · 2025

Background Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs). Aim 1) To characterize the distribution of AAs in patients with IAS and 2)…

Device-Related Complications in Transvenous Versus Subcutaneous Defibrillator Therapy During Long-Term Follow-Up: The PRAETORIAN-XL Trial Open

Louise R.A. Olde Nordkamp, Jolien A. de Veld, Abdul Ghani, Jürgen Kuschyk, Hendrik Bonnemeier , et al. · 2025

BACKGROUND: The PRAETORIAN trial (A Prospective, Randomized Comparison of Subcutaneous and Transvenous Implantable Cardioverter Defibrillator Therapy) investigated the efficacy and safety of the subcutaneous implantable cardioverter defibr…

Synthetic electrocardiograms for Brugada syndrome: from data generation to expert cardiologists evaluation Open

Beatrice Zanchi, Giuliana Monachino, Francesca Dalia Faraci, Matteo Metaldi, Pedro Brugada , et al. · 2025

Aims Synthetic electrocardiograms (ECGs) for inherited cardiac diseases may overcome the issue related to data scarcity for artificial intelligence (AI)-based algorithms. This study aimed to evaluate experienced cardiologists’ ability to d…

The diagnostic role of pharmacological provocation testing in cardiac electrophysiology: a clinical consensus statement of the European Heart Rhythm Association and the European Association of Percutaneous Cardiovascular Interventions (EAPCI) of the ESC, the ESC Working Group on Cardiovascular Pharmacotherapy, the Association of European Paediatric and Congenital Cardiology (AEPC), the Paediatric & Congenital Electrophysiology Society (PACES), the Heart Rhythm Society (HRS), the Asia Pacific Heart Rhythm Society (APHRS), and the Latin American Heart Rhythm Society (LAHRS) Open

Elijah R. Behr, Bo Gregers Winkel, Bode Ensam, Alberto Alfie, Elena Arbelo , et al. · 2025

The pharmacological provocation test is a pivotal tool in cardiac electrophysiology for the diagnosis of potential causes of sudden cardiac death, sudden cardiac arrest (SCA), arrhythmias, symptoms, or ECG abnormalities. The 2022 European …

High intensity exercise programme in patients with hypertrophic cardiomyopathy: a randomized trial Open

Joyee Basu, Dimitra Nikoletou, Chris Miles, Hamish MacLachlan, Gemma Parry‐Williams , et al. · 2025

Background and Aims The feasibility and impact of high intensity exercise programmes in patients with hypertrophic cardiomyopathy (HCM) are unknown. This study was conducted to determine the feasibility of a high intensity exercise program…

Rare disease gene association discovery in the 100,000 GenomesProject Open

Valentina Cipriani, Letizia Vestito, Emma Magavern, Julius O.B. Jacobsen, Gavin Arno , et al. · 2025

Up to 80% of rare disease patients remain undiagnosed after genomic sequencing 1 , with many probably involving pathogenic variants in yet to be discovered disease–gene associations. To search for such associations, we developed a rare var…

Influence of age and sex on the diagnostic yield of inherited cardiac conditions in sudden arrhythmic death syndrome decedents Open

Belinda Gray, Elijah R. Behr, Efstathios Papatheodorou, Athanasios Bakalakos, Hariharan Raju , et al. · 2024

Aims Sudden arrhythmic death syndrome (SADS) refers to a sudden death, which remains unexplained despite comprehensive post-mortem examination and a toxicological screen. We aimed to investigate the impact of age and sex on the overall dia…

Inappropriate Therapy and Shock Rates Between the Subcutaneous and Transvenous Implantable Cardiac Defibrillator: A Secondary Analysis of the PRAETORIAN Trial Open

Louise R.A. Olde Nordkamp, Shari Pepplinkhuizen, Abdul Ghani, Lucas V.A. Boersma, Jürgen Kuschyk , et al. · 2024

BACKGROUND: Inappropriate therapy (IAT) is an undesirable side effect of implantable cardiac defibrillator (ICD) therapy. Early studies with the subcutaneous ICD (S-ICD) showed relatively high inappropriate shock (IAS) rates. The PRAETORIA…

Corrigendum to “Analysis of buccal mucosa as a prognostic tool in children with arrhythmogenic cardiomyopathy” [Progress in Pediatric Cardiology 64 (2022) 101458] Open

Carlos Bueno‐Betí, Ella Field, Adalena Tsatsopoulou, Gregory Perry, Mary N. Sheppard , et al. · 2024

The Impact of Coronary Ischemia Assessment on Outcomes in Those With Scar‐Dependent Ventricular Tachycardia Open

Michael Waight, Davide Fabbricatore, Elijah R. Behr, Manav Sohal, Anthony Li , et al. · 2024

Background Guidance and outcomes of coronary ischemia assessment (IA) in those with structural heart disease (SHD), presenting with monomorphic ventricular tachycardia (MMVT) is unclear. Objectives To assess the impact of IA on arrhythmic …

aTrial arrhythmias in inhEriTed aRrhythmIa Syndromes: results from the TETRIS study Open

Giulio Conte, Marco Bergonti, Vincent Probst, Hiroshi Morita, Jacob Tfelt‐Hansen , et al. · 2024

Aims Little is known about the distribution and clinical course of patients with inherited arrhythmia syndrome (IAS) and concomitant atrial arrhythmias (AAs). The aim of the study is (i) to characterize the distribution of AAs in patients …

Quality of Life in Subcutaneous or Transvenous Implantable Cardioverter-Defibrillator Patients: A Secondary Analysis of the PRAETORIAN Trial Open

Reinoud E. Knops, Jolien A. de Veld, Abdul Ghani, Lucas V.A. Boersma, Jürgen Kuschyk , et al. · 2024

BACKGROUND: The subcutaneous implantable cardioverter-defibrillator (S-ICD) was developed to overcome the risk of lead-related complications associated with the transvenous implantable cardioverter-defibrillator (TV-ICD). In contrast to th…

Novel real-time automation of combined frequency and low voltage substrate mapping to guide ablation for Brugada syndrome: a case report Open

Joseph Mayer, Jaffar Al-Sheikhli, Maria Niespialowska-Steuden, Elijah R. Behr, Tarvinder Dhanjal · 2024

Background Brugada syndrome (BrS) is an inherited cardiac condition that increases the risk of sudden cardiac death (SCD) due to ventricular arrhythmias. Catheter ablation has been shown to effectively reduce recurrent ventricular fibrilla…

A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand Open

Roddy Walsh, John Mauleekoonphairoj, Isabella Mengarelli, Fernanda M. Bosada, Arie O. Verkerk , et al. · 2024

BACKGROUND: Brugada syndrome (BrS) is a cardiac arrhythmia disorder that causes sudden death in young adults. Rare genetic variants in the SCN5A gene encoding the Na v 1.5 sodium channel and common noncoding variants at this locus are robu…

Genetic testing for inherited arrhythmia syndromes and cardiomyopathies: results of the European Heart Rhythm Association survey Open

Ivan Zeljković, Anaïs Gauthey, Martin Manninger, Katarzyna Małaczyńska-Rajpold, Jacob Tfelt‐Hansen , et al. · 2024

Aims Indications and clinical impact of genetic testing for cardiac diseases have increased significantly over the past years. The aim of this physician-based European Heart Rhythm Association (EHRA) survey was to assess current clinical p…

Left ventricular morphology and geometry in élite athletes characterised by extreme anthropometry Open

Eleonora Moccia, Harshil Dhutia, Aneil Malhotra, Efstathios Papatheodorou, Elijah R. Behr , et al. · 2024

Athletes with high BMI have similar LV dimensions but greater wall thickness and higher prevalence of concentric remodelling compared to very tall athletes. Athletes with high BMI and large BSA have the widest LV dimensions.

Brugada syndrome: can polygenic risk scores help the clinician? Open

Elijah R. Behr · 2024

Graphical AbstractRare and polygenic risk and potential impact on disease manifestation in Brugada syndrome: P/LP, pathogenic or likely pathogenic; VT, ventricular tachycardia; VF, ventricular fibrillation; RVOT, right ventricular outflow …

2 Insights into the aetiology and temporal trends in cardiac mortality in the young: a 21-year review of national and registry data in england and wales Open

Raghav Bhatia, Teo Joo Yeo, Hamish MacLachlan, Chitsa Seyani, Emmanuel Androulakis , et al. · 2024

Background An accurate representation of the incidence and aetiology of cardiac and sudden cardiac death (SCD) is vital for healthcare policymakers to effectively allocate resources for preventative strategies. Aim We aimed to report on th…

Type 1 Brugada Pattern May Be Provoked by Ajmaline in Some Healthy Subjects: Results From a Clinical Trial Open

Bode Ensam, Chiara Scrocco, David C. Johnson, Yanushi D. Wijeyeratne, Rachel Bastiaenen , et al. · 2024

Autopsy of all young sudden death cases is important to increase survival in family members left behind Open

Thomas Hadberg Lynge, Christine M. Albert, Cristina Basso, Rodrigue Garcia, Andrew D. Krahn , et al. · 2024

Sudden cardiac death (SCD) is an important public health problem worldwide, accounting for an estimated 6–20% of total mortality. A significant proportion of SCD is caused by inherited heart disease, especially among the young. An autopsy …

Evolution of the ECG in idiopathic ventricular fibrillation survivors: results from a single-centre UK registry Open

Chiara Scrocco, Duo Lee, Bode Ensam, Rachel Bastiaenen, Mark Specterman , et al. · 2024

Background Idiopathic ventricular fibrillation (VF) is a diagnosis of exclusion in subjects with an unexplained cardiac arrest and no evidence of overt structural or electrical cardiac abnormalities (1). It can be associated with an early …

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