Meeting report - Alpine desmosome disease meeting 2024: advances and emerging topics in desmosomes and related diseases.

Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases.

Coexistence of cardiac sarcoidosis and arrhythmogenic cardiomyopathy-associated genetic variants: a multicentre case-control study.

Background: Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.

CardioMEA: comprehensive data analysis platform for studying cardiac diseases and drug responses.

Introduction: In recent years, high-density microelectrode arrays (HD-MEAs) have emerged as a valuable tool in preclinical research for characterizing the electrophysiology of human induced pluripotent stem-cell-derived cardiomyocytes (iPSC-CMs). HD-MEAs enable the capturing of both extracellular and intracellular signals on a large scale, while minimizing potential damage to the cell. However, despite technological advancements of HD-MEAs, there is a lack of effective data-analysis platforms that are capable of processing and analyzing the data, particularly in the context of cardiac arrhythmias and drug testing.

Desmoplakin mutations in cardiac fibroblasts cause TGFβ1-mediated pathological fibrogenesis in desmoplakin cardiomyopathy via beclin-1 regulation.

Background: Pathological fibrosis is a major finding in cardiovascular diseases and can result in arrhythmia and heart failure. Desmosome gene mutations can lead to arrhythmogenic cardiomyopathy (ACM). Among ACM, pathogenic desmoplakin ( ) variants cause a distinctive cardiomyopathy with excessive cardiac fibrosis that could precede ventricular dysfunction.

Clinical experience of pulmonary vein isolation via single transseptal puncture in atrial fibrillation patients: Comprehensive characterization and follow-up.

Background: Atrial fibrillation is the most commonly observed cardiac rhythm disorder. Pulmonary vein isolation (PVI) is an effective treatment option to maintain sinus rhythm. This study evaluates the safety, efficacy, clinical outcomes and radiation exposures using a standardized single transseptal puncture (STP)-strategy.

Prediction of major arrhythmic outcomes in ischaemic cardiomyopathy: value of hibernating myocardium in positron emission tomography/computed tomography.

Aims: Known predictors of major arrhythmic events (MAEs) in patients with ischaemic cardiomyopathy (ICM) include previous MAE and left ventricular ejection fraction (LVEF) ≤ 35%. Myocardial scars detected by perfusion imaging in ICM have been linked to MAE, but the prognostic significance of hibernating myocardium (HM) is unclear. The objective was to predict MAEs from combined 13N-ammonia (NH3) and 18F-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) in ICM.

Prognostic value of plasma big endothelin-1 in patients with light chain cardiac amyloidosis.

Background: Light chain cardiac amyloidosis (AL-CA) is associated with a high incidence of mortality. Big endothelin-1 (ET-1), the precursor of endothelial-vasoconstrictive ET-1, is closely related to the concentration of bioactive ET-1. Association between big ET-1 and prognosis of AL-CA has not yet been documented.

Predictors of ventricular tachyarrhythmia in patients with a wearable cardioverter defibrillator: an international multicenter registry.

Background And Aims: Wearable cardioverter defibrillator (WCD) can protect patients from sudden cardiac death due to ventricular tachyarrhythmias and serve as a bridge to decision of definite defibrillator implantation. The aim of this analysis from an international, multicenter WCD registry was to identify predictors of sustained ventricular tachycardia (VT) and/or ventricular fibrillation (VF) in this population.

Methods: One thousand six hundred seventy-five patients with WCD were included in a multicenter registry from 9 European centers, with a median follow-up of 440 days (IQR 120-893).

Rhythm vs Rate Control Strategy for Atrial Fibrillation: A Meta-Analysis of Randomized Controlled Trials.

Background: Rhythm control, either with antiarrhythmic drugs or catheter ablation, and rate control strategies are the cornerstones of atrial fibrillation (AF) management. Despite the increasing role of rhythm control over the past few years, it remains inconclusive which strategy is superior in improving clinical outcomes.

Objectives: This study summarizes the total and time-varying evidence regarding the efficacy of rhythm- vs rate-control strategies in the management of AF.

Real World Data from Catheter Ablation of Ventricular Tachycardias and Premature Ventricular Complexes in a Tertiary Care Center.

: Catheter ablation in patients with ventricular arrhythmias (VA), such as ventricular tachycardias (VT) or frequent premature ventricular complexes (PVC), is increasingly considered an effective and safe therapy when performed in experienced centers. This study sought to determine acute success rates and complication rates of ablation procedures for patients with VA in a Swiss tertiary care center. All patients who underwent ablation therapy for VT and PVC at the University Heart Center in Zurich, Switzerland, between March 2012 and April 2017 were included in this analysis.

Prognostic implications of premature ventricular contractions and non-sustained ventricular tachycardia in light-chain cardiac amyloidosis.

Aims: Premature ventricular contractions (PVC) and non-sustained ventricular tachycardia (NSVT) are commonly observed in light chain cardiac amyloidosis (AL-CA), but their association with prognosis is still unclear. We aimed to evaluate the prognostic value of PVCs and NSVT in patients with moderate-to-advanced AL-CA.

Methods And Results: We retrospectively included patients with AL-CA at modified 2004 Mayo stages II-IIIb between February 2014 and December 2020.

Challenges and pitfalls during CRT implantation in patients with persistent left superior vena cava.

Background: Persistent left superior vena cava (PLSVC) is a rare venous anomaly, affecting 0.3-0.5% of the general population.

Catecholaminergic Polymorphic Ventricular Tachycardia: Multiple Clinical Presentations of a Genetically Determined Disease.

Background: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare, inherited heart rhythm disorder that is caused by variants in genes responsible for cardiac calcium homeostasis. The aim of this study was to analyze different genotype-specific clinical manifestations of this disease.

Methods And Results: We analyzed five CPVT cases from our institution in the context of specific patient characteristics and genotype-phenotype correlations.

Implantable cardioverter defibrillator use in arrhythmogenic right ventricular cardiomyopathy in North America and Europe.

Background And Aims: Implantable cardioverter-defibrillators (ICDs) are critical for preventing sudden cardiac death (SCD) in arrhythmogenic right ventricular cardiomyopathy (ARVC). This study aims to identify cross-continental differences in utilization of primary prevention ICDs and survival free from sustained ventricular arrhythmia (VA) in ARVC.

Methods: This was a retrospective analysis of ARVC patients without prior VA enrolled in clinical registries from 11 countries throughout Europe and North America.

Performance and safety of temperature- and flow-controlled radiofrequency ablation for ventricular arrhythmia.

Aims: High-power ablation is effective for ventricular arrhythmia ablation; however, it increases the risk of steam pops. The aim of this study was to define the safety and efficacy of QMODE ablation in the ventricle and the risk of steam pop.

Methods And Results: Consecutive patients undergoing ventricular ablation using QDOT were included in a prospective single-centre registry.