Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.

TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene.

Sex-Related Differences in Patients With Unexplained Syncope and Bundle Branch Block: Lower Risk of AV Block and Lesser Need for Cardiac Pacing in Women.

Objective: To analyze if there are sex-related differences in patients with unexplained syncope and bundle branch block (BBB).

Background: Despite increasing awareness that sex is a major determinant of the incidence, etiology, and the outcomes of different arrhythmias, no studies have examined differences in presentation and outcomes between men and women with syncope and BBB.

Methods: Cohort study of consecutive patients with unexplained syncope and BBB was included from January 2010 to January 2021 with a median follow-up time of 3.

Cardiac monitoring for patients with palpitations.

Palpitations are one of the most common reasons for medical consultation. They tend to worry patients and can affect their quality of life. They are often a symptom associated with cardiac rhythm disorders, although there are other etiologies.

Syncope Time Frames for Adverse Events after Emergency Department Presentation: An Individual Patient Data Meta-Analysis.

: Knowledge of the incidence and time frames of the adverse events of patients presenting syncope at the ED is essential for developing effective management strategies. The aim of the present study was to perform a meta-analysis of the incidence and time frames of adverse events of syncope patients. : We combined individual patients' data from prospective observational studies including adult patients who presented syncope at the ED.

Substrate characterization of the right ventricle in repaired tetralogy of Fallot using late enhancement cardiac magnetic resonance.

Background: Three-dimensional (3D) substrate characterization by high-resolution late gadolinium enhancement cardiac magnetic resonance (LE-CMR) is useful for guiding ventricular tachycardia ablation of the left ventricle in ischemic heart disease.

Objective: The purpose of this study was to validate the substrate characterization and 3D reconstruction of LE-CMR images of the right ventricle (RV) in patients with repaired tetralogy of Fallot (rTOF) and to identify the algorithm that best fits with electroanatomic mapping (EAM).

Methods: RV LE-CMR images were compared with RV EAM in 10 patients with rTOF.

Cardiac biometric variables and arrhythmic events during COVID-19 pandemic lockdown in patients with an implantable cardiac monitor for syncope work-up.

Aim: To assess the changes induced by the COVID-19 lockdown on cardiac biometric variables recorded using an implantable cardiac monitor (ICM) in a patient population monitored for syncope work-up, as well to assess whether there has been an effect on arrhythmic events among the patients.

Methods: Longitudinal cohort study. We included 245 adult patients monitored with an ICM indicated for the investigation of syncope.

Cardiac biometric variables and arrhythmic events during COVID-19 pandemic lockdown in patients with an implantable cardiac monitor for syncope work-up.

Aim: To assess the changes induced by the COVID-19 lockdown on cardiac biometric variables recorded using an implantable cardiac monitor (ICM) in a patient population monitored for syncope work-up, as well to assess whether there has been an effect on arrhythmic events among the patients.

Methods: Longitudinal cohort study. We included 245 adult patients monitored with an ICM indicated for the investigation of syncope.

Risk stratification of ventricular arrhythmias in repaired tetralogy of Fallot.

Introduction And Objectives: Risk stratification of ventricular arrhythmias in patients with repaired tetralogy of Fallot (rTOF) remains unresolved. We aimed to identify right ventricular (RV) electrophysiological parameters potentially associated with a higher risk of ventricular arrhythmias in patients with rTOF.

Methods: We included all consecutive patients with rTOF who underwent RV electroanatomical mapping at a single tertiary center.

Etiology and prognosis of patients with unexplained syncope and mid-range left ventricular dysfunction.

Background: Syncope in patients with mid-range left ventricular ejection fraction (LVEF) can be due to potentially serious arrhythmic causes. However, there is no clear consensus on the best way to manage these patients.

Objectives: The objectives of this study were to determine the causes of syncope and assess the diagnostic yield and safety of a stepwise workup protocol in this population.

High incidence of subclinical atrial fibrillation in patients with syncope monitored with implantable cardiac monitor.

Objective: The use of implantable cardiac monitors (ICM) is highly useful in syncope workup. Latest-generation devices can detect asymptomatic episodes of atrial fibrillation. The main objective of this study was to determine the incidence of subclinical atrial fibrillation (AF) detected in a patient population undergoing prolonged electrocardiographic monitoring with an ICM for the etiological workup of syncope.

Syncope in Patients With Severe Aortic Stenosis: More Than Just an Obstruction Issue.

Background: Severe aortic stenosis (AoS) is considered a primary cause of syncope. However, other mechanisms may be present in these patients and accurate diagnosis can have important clinical implications. The aim of this study is to assess the different etiologies of syncope in patients with severe AoS and the impact on prognosis of attaining a certain or highly probable diagnosis for the syncope.

Management of Heart Failure with Reduced Ejection Fraction after ESC 2016 Heart Failure Guidelines: The Linx Registry.

Aims: In May 2016, a new version of the European Society of Cardiology (ESC) Guidelines for the management of heart failure (HF) was released. The aim of this study was to describe the management of HF with reduced ejection fraction after the publication of ESC Guidelines.

Methods And Results: The Linx registry is a multicentre, observational, cross-sectional study from 14 Catalan hospitals that enrolled 1056 patients with HF and reduced left ventricular ejection fraction (≤40%) from 1 February to 30 April 2017 in outpatient cardiology clinics.

Flecainide Versus Procainamide in Electrophysiological Study in Patients With Syncope and Wide QRS Duration.

Objectives: This study sought to compare the differences between procainamide and flecainide to stress the His-Purkinje system during electrophysiological study (EPS) in patients with syncope and bundle branch block (BBB).

Background: Patients with syncope and BBB are at risk of developing atrioventricular block. EPS is recommended including class I drug challenge to unmask His-Purkinje disease in cases with baseline normal His-ventricular interval.

Syncope, conduction disturbance, and negative electrophysiological test: Predictive factors and risk score to predict pacemaker implantation during follow-up.

Background: Patients with syncope and bundle branch block (BBB) are at risk for atrioventricular block (AVB). Electrophysiological study (EPS) can help in identifying patients at higher risk for AVB, but the false-negative rate is remarkable. Few data on the predictors of the need for pacemaker implantation during follow-up have been reported.

Preprocedural imaging to guide transcoronary ethanol ablation for refractory septal ventricular tachycardia.

Background: Radiofrequency ablation (RF) of ventricular tachycardia (VT) due to intramural foci has a high recurrence rate. Several techniques, such as bipolar ablation, irrigated needle ablation catheter, and retrograde coronary venous ethanol ablation have been suggested. Transarterial coronary ethanol ablation (TCEA) can also be effective.

Predictors of positive electrophysiological study in patients with syncope and bundle branch block: PR interval and type of conduction disturbance.

Background: Electrophysiological study (EPS) is indicated in patients with syncope and bundle branch block (BBB). Data about predictors of positive EPS in these patients is scarce.

Objective: To assess clinical and electrocardiographic (ECG) predictors of positive EPS in patients with syncope and BBB.

Mechanisms of Intra-Atrial Re-Entrant Tachycardias in Congenital Heart Disease: Types and Predictors.

Intra-atrial re-entrant tachycardia (IART) is a severe complication in patients with congenital heart disease (CHD). Cavotricuspid isthmus (CTI)-related IART is the most frequent mechanism. However, due to fibrosis and surgical scars, non-CTI-related IART is frequent.

Long-Term Follow-Up After Ablation of Intra-Atrial Re-Entrant Tachycardia in Patients With Congenital Heart Disease: Types and Predictors of Recurrence.

Objectives: The aim of this study was to analyze the long-term outcomes after intra-atrial re-entrant tachycardia (IART) ablation in congenital heart disease (CHD).

Background: IART increases morbidity and mortality in CHD patients. Radiofrequency catheter ablation has evolved into the first-line treatment of this complication.

Diagnostic Yield and Economic Assessment of a Diagnostic Protocol With Systematic Use of an External Loop Recorder for Patients With Palpitations.

Introduction And Objectives: To assess the diagnostic yield and cost-effectiveness of a diagnostic protocol based on the systematic use of latest-generation external loop recorders (ELRs) compared with the classic diagnostic strategy for patients with recurrent unexplained palpitations.

Methods: Two cohorts of consecutive patients referred for diagnosis of unexplained palpitations to the outpatient clinic of the arrhythmia unit were compared: a prospective cohort after the implementation of a new diagnostic protocol based on the systematic use of ELRs, and another, retrospective, cohort before the implementation of the protocol. The cost of diagnosis was calculated based on the number of complementary examinations, visits to outpatient clinics, or emergency department visits required to reach a diagnosis, and its costs according the prices published for the local health system.

Syncope and bundle branch block : Diagnostic approach.

Syncope and bundle branch block are reviewed, addressing their specific clinical characteristics, natural history, initial diagnostic approach and the role and limitations of different diagnostic tests with a special focus on electrophysiological studies and implantable loop recorders. A critical review of the different published strategies to be followed in these patients is made and finally an algorithm of how to manage these patients is proposed.

Cardiac resynchronization therapy is associated with a reduction in ICD therapies as it improves ventricular function.

Background: Repeated implantable cardioverter-defibrillator (ICD) therapies cause myocardial damage and, thus, an increased risk of arrhythmias and mortality.

Hypothesis: Cardiac resynchronization therapy-defibrillator (CRT-D) reduces the number of appropriate therapies in patients with left ventricular dysfunction (left ventricular ejection fraction [LVEF] <50%).

Methods: The retrospective study involved 175 consecutive patients (mean age, 64.