SCN5A overlap syndromes: An open-minded approach.

SCN5A overlap syndromes are clinical entities that express a phenotype combining aspects of different canonical SCN5A-related arrhythmia syndromes or a variable arrhythmic phenotype among individuals carrying the same SCN5A mutation. Here we review the literature addressing SCN5A overlap syndromes as well as the principal mechanisms currently proposed. Among others, a multifactorial determination encompassing an interaction between SCN5A variant(s), other genetic polymorphisms, and possibly environmental factors seems the most plausible hypothesis.

Further Insights into the Toxicity of Based on Toxin Gene Profiling and Vero Cell Cytotoxicity Assays.

belongs to the group that also comprises the foodborne pathogen sensu stricto, causing anthrax, as well as the biopesticide . The first was isolated in the context of a severe food poisoning outbreak leading to fatal cases of diarrheal disease. Subsequent characterization of the outbreak strain led to the conclusion that this strain was highly cytotoxic and eventually resulted in the description of a novel species, whose name reflects the observed toxicity: .

Design of the Swiss Atrial Fibrillation Cohort Study (Swiss-AF): structural brain damage and cognitive decline among patients with atrial fibrillation.

Background: Several studies found that patients with atrial fibrillation (AF) have an increased risk of cognitive decline and dementia over time. However, the magnitude of the problem, associated risk factors and underlying mechanisms remain unclear.

Methods: This article describes the design and methodology of the Swiss Atrial Fibrillation (Swiss-AF) Cohort Study, a prospective multicentre national cohort study of 2400 patients across 13 sites in Switzerland.

TECRL, a new life-threatening inherited arrhythmia gene associated with overlapping clinical features of both LQTS and CPVT.

Genetic causes of many familial arrhythmia syndromes remain elusive. In this study, whole-exome sequencing (WES) was carried out on patients from three different families that presented with life-threatening arrhythmias and high risk of sudden cardiac death (SCD). Two French Canadian probands carried identical homozygous rare variant in TECRL gene (p.

Reversal of left ventricular dysfunction after ablation of premature ventricular contractions related parameters, paradoxes and exceptions to the rule.

Background: Suppression of frequent premature ventricular contractions (PVCs) does not systematically lead to an expected reversal of PVC-induced cardiomyopathy and determinants of left ventricular ejection fraction (LVEF) recovery (reverse remodeling) after ablation remain largely unknown.

Methods: Ninety-six consecutive patients with a suspicion of PVC induced-cardiomyopathy were retrospectively included. Parameters potentially related to reverse remodeling (>10% increase in LVEF) were analyzed in patients w/wo long-term success (decrease in PVC burden >80%).

Novel calmodulin mutations associated with congenital long QT syndrome affect calcium current in human cardiomyocytes.

Background: Calmodulin (CaM) mutations are associated with cardiac arrhythmia susceptibility including congenital long QT syndrome (LQTS).

Objective: The purpose of this study was to determine the clinical, genetic, and functional features of 2 novel CaM mutations in children with life-threatening ventricular arrhythmias.

Methods: The clinical and genetic features of 2 congenital arrhythmia cases associated with 2 novel CaM gene mutations were ascertained.

Sudden cardiac death among general population and sport related population in forensic experience.

Purpose: The goal of the study was to assess the causes and analyze the cases of sudden cardiac death (SCD) victims referred to the department of forensic medicine in Lausanne, with a particular focus on sports-related fatalities including also leisure sporting activities. To date, no such published assessment has been done nor for Switzerland nor for the central Europe.

Methods: This is a retrospective study based on autopsy records of SCD victims, from 10 to 50 years of age, performed at the University Centre of Legal Medicine in Lausanne from 1995 to 2010.

Premature ventricular contraction-induced cardiomyopathy: Related clinical and electrophysiologic parameters.

Background: Factors associated with premature ventricular contraction-induced cardiomyopathy (PVCi-CMP) remain debated.

Objective: The purpose of this study was to test the correlation of various factors to the presence PVCi-CMP in a large multicenter population.

Methods: One hundred sixty-eight consecutive patients referred for ablation of frequent premature ventricular contractions (PVCs) were included.

Radio-frequency ablation as primary management of well-tolerated sustained monomorphic ventricular tachycardia in patients with structural heart disease and left ventricular ejection fraction over 30%.

Aims: Patients with well-tolerated sustained monomorphic ventricular tachycardia (SMVT) and left ventricular ejection fraction (LVEF) over 30% may benefit from a primary strategy of VT ablation without immediate need for a 'back-up' implantable cardioverter-defibrillator (ICD).

Methods And Results: One hundred and sixty-six patients with structural heart disease (SHD), LVEF over 30%, and well-tolerated SMVT (no syncope) underwent primary radiofrequency ablation without ICD implantation at eight European centres. There were 139 men (84%) with mean age 62 ± 15 years and mean LVEF of 50 ± 10%.

[Acquired long QT syndrome].

The long QT syndrome may be acquired or genetically determined. The syndrome is characterized by a prolonged QT interval and is associated with an increased risk of cardiac arrhythmia such as a torsade de pointe and death. Electrolytes disorders such as hypomagnesemia and hypokaliemia and several drugs may increase the risk to develop a long QT syndrome.

Three short perioperative infusions of n-3 PUFAs reduce systemic inflammation induced by cardiopulmonary bypass surgery: a randomized controlled trial.

Background: Fish oil (FO) has antiinflammatory effects, which might reduce systemic inflammation induced by a cardiopulmonary bypass (CPB).

Objective: We tested whether perioperative infusions of FO modify the cell membrane composition, inflammatory responses, and clinical course of patients undergoing elective coronary artery bypass surgery.

Design: A prospective randomized controlled trial was conducted in cardiac surgery patients who received 3 infusions of 0.

New electrocardiographic criteria for discriminating between Brugada types 2 and 3 patterns and incomplete right bundle branch block.

Objectives: The aim of this study was to evaluate new electrocardiographic (ECG) criteria for discriminating between incomplete right bundle branch block (RBBB) and the Brugada types 2 and 3 ECG patterns.

Background: Brugada syndrome can manifest as either type 2 or type 3 pattern. The latter should be distinguished from incomplete RBBB, present in 3% of the population.

Ventricular arrhythmia in coronary artery disease: limits of a risk stratification strategy based on the ejection fraction alone and impact of infarct localization.

Aims: Estimates of the left ventricular ejection fraction (LVEF) in patients with life-threatening ventricular arrhythmias related to coronary artery disease (CAD) have rarely been reported despite it has become the basis for determining patient's eligibility for prophylactic defibrillator. We aimed to determine the extent and distribution of reduced LVEF in patients with sustained ventricular tachycardia or ventricular fibrillation.

Methods And Results: 252 patients admitted for ventricular arrhythmia related to CAD were included: 149 had acute myocardial infarction (MI) (Group I, 59%), 54 had significant chronic obstructive CAD suggestive of an ischaemic arrhythmic trigger (Group II, 21%) and 49 patients had an old MI without residual ischaemia (Group III, 19%).

The role of admission blood glucose in outcome prediction of surviving patients with multiple injuries.

Background: Recent literature demonstrates hyperglycemia to be common in patients with trauma and associated with poor outcome in patients with traumatic brain injury and critically ill patients. The goal of this study was to analyze the impact of admission blood glucose on the outcome of surviving patients with multiple injuries.

Methods: Patients' charts (age >16) admitted to the emergency room of the University Hospital of Berne, Switzerland, between January 1, 2002, and December 31, 2004, with an Injury Severity Score >or=17 and more than one severely injured organ system were reviewed retrospectively.

Stepwise evaluation of unexplained syncope in a large ambulatory population.

Background: Up to 60% of syncopal episodes remain unexplained. We report the results of a standardized, stepwise evaluation of patients referred to an ambulatory clinic for unexplained syncope.

Methods And Results: We studied 939 consecutive patients referred for unexplained syncope, who underwent a standardized evaluation, including history, physical examination, electrocardiogram, head-up tilt testing (HUTT), carotid sinus massage (CSM) and hyperventilation testing (HYV).

[The implantable loop recorder].

The implantable loop recorder developed by Medtronic (Reveal plus) is a small device inserted subcutaneously under local anesthesia in patients with syncope of unexplained origin. This device enables a single lead-ECG recording and has autonomy of two years. Memories are activated during episodes of bradycardia or tachycardia, either automatically or manually.

A biophysical model of atrial fibrillation ablation: what can a surgeon learn from a computer model?

Aims: Surgical ablation procedures for treating atrial fibrillation have been shown to be highly successful. However, the ideal ablation pattern still remains to be determined. This article reports on a systematic study of the effectiveness of the performance of different ablation line patterns.

Off-pump epicardial compartmentalization for ablation of atrial fibrillation.

The Cox-Maze-III procedure still remains the gold standard in surgical treatment of atrial fibrillation. The major hazard of atrial fibrillation is thromboembolic event to the brain. Left atrial appendage (LAA) represents the source of thrombus and subsequent embolism although LAA obliteration is a key point to prevent thrombogenesis.

Use of a biophysical model of atrial fibrillation in the interpretation of the outcome of surgical ablation procedures.

Objective: To determine the adequacy of 'in silico' biophysical models of atrial fibrillation (AF) in the design of different ablation line patterns.

Background: Permanent AF is a severe medical problem for which (surgical) ablation is a possible treatment. The ideal ablation pattern remains to be defined.

Predictive models of syncope causes in an outpatient clinic.

Unlabelled: The investigation of unexplained syncope remains a challenging clinical problem. In the present study we sought to evaluate the diagnostic value of a standardized work-up focusing on non invasive tests in patients with unexplained syncope referred to a syncope clinic, and whether certain combinations of clinical parameters are characteristic of rhythmic and reflex causes of syncope.

Methods And Results: 317 consecutive patients underwent a standardized work-up including a 12-lead ECG, physical examination, detailed history with screening for syncope-related symptoms using a structured questionnaire followed by carotid sinus massage (CSM), and head-up tilt test.

A biophysical model of atrial fibrillation to define the appropriate ablation pattern in modified maze.

Objective: The surgical Maze III procedure remains the gold standard in treating atrial fibrillation (AF); however due to clinical difficulties and higher risks, less invasive ablation alternatives are clinically investigated. The present study aims to define more efficient ablation patterns of the modified maze procedure using a biophysical model of human atria with chronic AF.

Methods: A three-dimensional model of human atria was developed using both MRI-imaging and a one-layer cellular model reproducing experimentally observed atrial cellular properties.

Narrow, slow-conducting isthmus dependent left atrial reentry developing after ablation for atrial fibrillation: ECG characterization and elimination by focal RF ablation.

Introduction: The complete circuit of reentrant left atrial tachycardias (LATs) occurring after ablation for atrial fibrillation (AF) has not been well described. Identifying discrete isthmuses critical to these LATs may simplify their elimination by catheter ablation.

Methods And Results: Fifteen patients (all male, 56 +/- 8 years) with 15 reentrant LATs following AF ablation underwent activation and entrainment mapping.