Somatic mutation contributes to tetralogy of Fallot.

Tetralogy of Fallot (TOF) is the most prevalent cyanotic congenital heart pathology and causes infant morbidity and mortality worldwide. GATA-binding protein 4 (GATA4) serves as a pivotal transcriptional factor for embryonic cardiogenesis and germline mutations are causally linked to TOF. However, the effects of somatic mutations on the pathogenesis of TOF remain to be ascertained.

VEZF1 loss-of-function mutation underlying familial dilated cardiomyopathy.

Dilated cardiomyopathy (DCM), characteristic of left ventricular or biventricular dilation with systolic dysfunction, is the most common form of cardiomyopathy, and a leading cause of heart failure and sudden cardiac death. Aggregating evidence highlights the underlying genetic basis of DCM, and mutations in over 100 genes have been causally linked to DCM. Nevertheless, due to pronounced genetic heterogeneity, the genetic defects underpinning DCM in most cases remain obscure.

SOX7 loss-of-function variation as a cause of familial congenital heart disease.

Introduction: As the most frequent type of birth defect in humans, congenital heart disease (CHD) leads to a large amount of morbidity and mortality as well as a tremendous socioeconomic burden. Accumulating studies have convincingly substantiated the pivotal roles of genetic defects in the occurrence of familial CHD, and deleterious variations in a great number of genes have been reported to cause various types of CHD. However, owing to pronounced genetic heterogeneity, the hereditary components underpinning CHD remain obscure in most cases.

ISL1 loss-of-function variation causes familial atrial fibrillation.

Atrial fibrillation (AF) represents the most frequent form of sustained cardiac rhythm disturbance, affecting approximately 1% of the general population worldwide, and confers a substantially enhanced risk of cerebral stroke, heart failure, and death. Increasing epidemiological studies have clearly demonstrated a strong genetic basis for AF, and variants in a wide range of genes, including those coding for ion channels, gap junction channels, cardiac structural proteins and transcription factors, have been identified to underlie AF. Nevertheless, the genetic pathogenesis of AF is complex and still far from completely understood.

A New TBX5 Loss-of-Function Mutation Contributes to Congenital Heart Defect and Atrioventricular Block.

Congenital heart defect (CHD) represents the most common birth deformity, afflicting 1% of all births worldwide, and accounts for substantial morbidity and mortality. Increasing evidence highlights the pivotal roles of genetic etiologies in the pathogenesis of CHD, and pathogenic mutations in multiple genes, including TBX5 encoding a cardiac core transcription factor key to cardiovascular morphogenesis, have been involved in CHD. However, due to pronounced genetic heterogeneity of CHD, the genetic determinants underlying CHD in most cases remain obscure.

Identification and functional characterization of KLF5 as a novel disease gene responsible for familial dilated cardiomyopathy.

As a prevalent primary myocardial disease, dilated cardiomyopathy (DCM) represents the most common cause of heart failure in the young and the most frequent indication for cardiac transplantation. Aggregating evidence highlights the genetic basis of DCM. However, due to substantial genetic heterogeneity, the genetic defects of DCM in most cases remain elusive.

Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy.

Dilated cardiomyopathy (DCM) is the most prevalent cause of non-ischemic cardiac failure and the commonest indication for cardiac transplantation. Compelling evidence highlights the pivotal roles of genetic defects in the occurrence of DCM. Nevertheless, the genetic determinants underpinning DCM remain largely obscure.

Benefits and risks of additional ablation of complex fractionated atrial electrograms for patients with atrial fibrillation: a systematic review and meta-analysis.

Background: The benefits and risks of additional complex fractionated atrial electrograms (CFAE) ablation in patients with atrial fibrillation (AF) remain unclear.

Methods: Trials were identified in PubMed, Embase, Web of Science, and Cochrane Database, reviews, and reference lists of relevant papers. The primary end point was the recurrence of atrial arrhythmias after a single ablation.

Comparison of catheter ablation and surgical ablation in patients with long-standing persistent atrial fibrillation and rheumatic heart disease: a four-year follow-up study.

Background: In our previous prospective and randomized study, we have demonstrated that the concomitant surgical ablation using saline-irrigated cooled tip radiofrequency ablation (SICTRA) system is more effective than subsequent circumferential pulmonary vein isolation (CPVI) combined with substrate modification in treating patients with long-standing persistent atrial fibrillation (LS-AF) and rheumatic heart disease (RHD) undergoing cardiac surgery during middle-term follow-up. Whether this strategy also decreases longer-term arrhythmia recurrence is unknown. This study describes the 4-year efficacy of SICTRA for these patients.

Efficacy and safety of catheter ablation for long-standing persistent atrial fibrillation in women.

Objectives: It is uncertain whether gender affects the outcomes of catheter ablation (CA) for atrial fibrillation (AF). The objective of the study is to evaluate the efficacy and safety of CA for long-standing persistent AF in women.

Methods: Between January 2010 and May 2011, 220 consecutive patients (73 females, 33.

The impact of age on the efficacy and safety of catheter ablation for long-standing persistent atrial fibrillation.

Background: Catheter ablation (CA) has been the most effective treatment for both paroxysmal and persistent atrial fibrillation (AF). However, the impact of age on CA for persistent AF is not well defined.

Methods: Between January 2010 and August 2011, 258 consecutive patients (85 females, 32.

Left atrial wall thickness: anatomic aspects relevant to catheter ablation of atrial fibrillation.

Background: The success and complication rates of atrial fibrillation (AF) ablation may be related to regional differences in left atrial (LA) wall thickness. The purpose of this study was to investigate the transmural LA wall thickness in various regions.

Methods: We measured LA wall thickness in 36 human heart specimens using calipers at three planes including left pulmonary veins (PVs) vestibule plane, right PVs vestibule plane and the middle plane between the two.

Congestive heart failure after extensive catheter ablation for atrial fibrillation: prevalence, characterization, and outcome.

Introduction: This study sought to describe a new complication of catheter ablation for atrial fibrillation (AF): new onset congestive heart failure (CHF) after extensive ablation for AF.

Methods And Results: Data from 12 patients developing CHF after ablation were prospectively collected. All patients underwent extensive ablation for AF including circumferential pulmonary venous ablation and complex fractionated atrial electrograms guided ablation.

Efficacy of catheter ablation and surgical CryoMaze procedure in patients with long-lasting persistent atrial fibrillation and rheumatic heart disease: a randomized trial.

Aims: Catheter ablation and surgical Maze procedure are effective in treating atrial fibrillation (AF) patients. However, there is no study that compares the effect of circumferential pulmonary vein isolation (CPVI) combined with substrate ablation after valvular surgery and the concomitant Maze procedure for the treatment of AF in patients with rheumatic heart disease (RHD). The aim of this study was to compare the effectiveness of CPVI combined with substrate modification and surgical Maze procedure using Saline-Irrigated Cooled-tip Radiofrequency Ablation (SICTRA) system for the treatment of long-lasting persistent AF in patients with RHD.

Efficacy, safety and outcome of catheter ablation for atrial fibrillation in octogenarians.

Background And Objectives: Catheter ablation is effective in treating patients with atrial fibrillation (AF). The aim of the study was to evaluate the safety, efficacy and outcome of catheter ablation for AF in octogenarians.

Methods And Results: 377 consecutive patients were divided into three groups based on age: ≥80 years (group 1; n=49), 70-79 years (group 2; n=151), 60-69 years (group 3; n=177).

Decreased connexin 43 and increased fibrosis in atrial regions susceptible to complex fractionated atrial electrograms.

Background And Objectives: Complex fractionated atrial electrograms (CFAE) is distributed at preferential sites of atrium, and the mechanism underlying CFAE is not fully understood. We hypothesized that preexisting atrial abnormalities may be involved in the formation of CFAE.

Methods: Twelve pigs were subjected to acetylcholine infusion and right atrial pacing to induce sustained atrial fibrillation.

Pulmonary vein isolation combined with superior vena cava isolation for atrial fibrillation ablation: a prospective randomized study.

Aims: Circumferential pulmonary vein isolation (CPVI) is an established strategy for atrial fibrillation (AF) ablation. Superior vena cava (SVC), by harbouring the majority of non-pulmonary vein (PV) foci, is the most common non-PV origin for AF. However, it is unknown whether CPVI combined with SVC isolation (SVCI) could improve clinical results and whether SVCI is technically safe and feasible.

Circumferential pulmonary vein isolation: the role of key target sites.

Aims: Circumferential pulmonary vein isolation (CPVI) had been proved effective for treating atrial fibrillation (AF). However, the achievement of pulmonary vein (PV) isolation was sometimes challenging. PVs could not be isolated until some key target sites (KTSs) were ablated thoroughly.

Early identification and treatment of PV re-connections: role of observation time and impact on clinical results of atrial fibrillation ablation.

Aims: Circumferential pulmonary vein isolation (CPVI) has been reported to account for 30% of atrial fibrillation (AF) recurrence after initial ablation, and pulmonary vein (PV) re-connection accounts for about 80% of AF recurrence. There is no information in the literature whether early identification and treatment of acute PV conduction recovery during initial ablation has an impact on subsequent clinical results. The objective is to investigate the prevalence of acute PV conduction recovery during the observation time after PV isolation for paroxysmal AF, and to evaluate the impact of re-isolation treatment on clinical results.

[Electroanatomical systems guided circumferential pulmonary veins ablation for atrial fibrillation: initial experience from comparison between the EnSite-NavX and CARTO system].

Objective: The circumferential pulmonary vein ablation (CPVA) has been proved effective for atrial fibrillation (AF) and is becoming more widely accepted. This study aims to evaluate the effectiveness of the CARTO and the EnSite-NavX system and to compare between them on procedural parameters and clinical characteristics.

Methods: Seventy-five patients with paroxysmal or persistent symptomatic AF were randomly assigned to CPVA procedure guided by either the EnSite-NavX system (group I, n = 40) or the CARTO system (group II, n = 35).

Electroanatomical systems to guided circumferential pulmonary veins ablation for atrial fibrillation: initial experience from comparison between the Ensite/NavX and CARTO system.

Background: The circumferential pulmonary vein ablation (CPVA) has been proved effective for atrial fibrillation (AF) treatment and is becoming more widely accepted and practiced. This study aims to evaluate the characteristics of the CARTO and the Ensite/NavX system and draw a comparison between them on the aspects of procedural parameters and clinical effectiveness.

Methods: Seventy-five cases with paroxysmal or chronic symptomatic AF were randomly assigned to CPVA procedure guided by the Ensite/NavX system (group I, n = 40) and by the CARTO system (group II, n = 35).