Novel SCN5A gene mutation in a patient affected by multifocal ectopic premature Purkinje-related contractions syndrome.

We report the case of a 36-year-old woman who presented to the emergency department complaining of palpitations and asthenia. Investigations showed frequent ventricular ectopy and severe left ventricular ejection fraction impairment. She was diagnosed with a peculiar condition defined multifocal ectopic premature Purkinje-related contractions syndrome, which in some cases can be associated with a dilated cardiomyopathy phenotype. Genetic testing showed a novel mutation in the SCN5A gene (c.673C > G). In the context of acute left ventricular dysfunction in a young patient, we discuss the clinical presentation of this rare condition and its clinical management, as well as its genetic substrate.

Composition dependence of X-ray stability and degradation mechanisms at lead halide perovskite single crystal surfaces.

The multiple applications of lead halide perovskite materials and the extensive use of X-ray based techniques to characterize them highlight a need to understand their stability under X-ray irradiation. Here, we present a study where the X-ray stability of five different lead halide perovskite compositions (MAPbI3, MAPbCl3, MAPbBr3, FAPbBr3, CsPbBr3) was investigated using photoelectron spectroscopy. To exclude effects of thin film formation on the observed degradation behaviors, we studied clean surfaces of single crystals. Different X-ray resistance and degradation mechanisms were observed depending on the crystal composition. Overall, perovskites based on the MA+ cation were found to be less stable than those based on FA+ or Cs+. Metallic lead formed most easily in the chloride perovskite, followed by bromide, and only very little metallic lead formation was observed for MAPbI3. MAPbI3 showed one main degradation process, which was the radiolysis of MAI. Multiple simultaneous degradation processes were identified for the bromide compositions. These processes include ion migration towards the perovskite surface and the formation of volatile and solid products in addition to metallic lead. Lastly, CsBr formed as a solid degradation product on the surface of CsPbBr3.

Interface Energy Alignment between Lead Halide Perovskite Single Crystals and TIPS-Pentacene.

At present, there is a huge development in optoelectronic applications using lead halide perovskites. Considering that device performance is largely governed by the transport of charges across interfaces and, therefore, the interfacial electronic structure, fundamental investigations of perovskite interfaces are highly necessary. In this study, we use high-resolution soft X-ray photoelectron spectroscopy based on synchrotron radiation to explore the interfacial energetics for the molecular layer of TIPS-pentacene and lead halide perovskite single crystals. We perform ultrahigh vacuum studies on multiple thicknesses of an in situ formed interface of TIPS-pentacene with four different in situ cleaved perovskite single crystals (MAPbI3, MAPbBr3, FAPbBr3, and CsxFA1-xPbBryI3-y). Our findings reveal a substantial shift of the TIPS-pentacene energy levels toward higher binding energies with increasing thickness, while the perovskite energy levels remain largely unaffected regardless of their composition. These shifts can be interpreted as band bending in the TIPS-pentacene, and such effects should be considered when assessing the energy alignment at perovskite/organic transport material interfaces. Furthermore, we were able to follow a reorganization on the MAPbI3 surface with the transformation of the surface C 1s into bulk C 1s.

Pulsed-field ablation of pulmonary vein and left atrial posterior wall combined with left atrial appendage occlusion as single procedure.

Pulmonary vein isolation and left atrial posterior wall ablation using the Farapulse system, followed by left atrial appendage occlusion, have been achieved as single combined procedure to treat long-standing persistent atrial fibrillation in a patient at high hemorrhagic risk.

A case of medical liability involving an unexpected systemic amyloidosis.

The authors present a case of fatal amyloid cardiomyopathy, which was diagnosed only upon autopsy. A 57-year-old man was admitted to the hospital for scheduled percutaneous cardiac procedure of transcatheter radiofrequency ablation due to persistent atrial fibrillation and atrial flutter. Ventricular fibrillation was recorded in the monitor 2 h after the surgical procedure. Therefore, he was defibrillated and intubated, but he died for nosocomial pneumonia 26 days after being admitted. A judicial autopsy was ordered by the prosecutor due to an alleged medical malpractice. The autopsy confirmed the cause of death being pneumonia, but also revealed an occult restrictive cardiomyopathy with a thick and firm myocardium. Viscera samples were then collected for microscopic examination. Histopathologic analysis showed diffuse amyloid deposits in the myocardium, especially in the perivascular and subendocardial spaces. Amyloid deposits were also detected in all the other organs, except for the brain. Furthermore, immunohistochemistry for light chains was performed on the heart tissue sample, resulting to be positive. In the case presented herein, autopsy and histopathologic examination were crucial to diagnose an occult systemic amyloidosis (AL-type). In fact, it has been observed that the rarity of systematic amyloidosis and its unusual clinical onset were at first mistakenly perceived as a medical malpractice due to a technical error within the catheter ablation for atrial fibrillation. As a consequence, upon discussing the clinical and medicolegal implications concerning the case, the focus was placed on the undiagnosed systemic amyloidosis and on the causality between surgical procedure and the patient's death.

Ventricular arrhythmias in athletes: Role of a comprehensive diagnostic workup.

BACKGROUND: Ventricular arrhythmias (VAs) represent a critical issue with regard to sports eligibility assessment in athletes. The ideal diagnostic evaluation of competitive and leisure-time athletes with complex VAs has not been clearly defined. OBJECTIVE: The purpose of this study was to assess the clinical implications of invasive electrophysiological assessments and endomyocardial biopsy (EMB) among athletes with VAs. METHODS: We evaluated 227 consecutive athletes who presented to our institutions after being disqualified from participating in sports because of VAs. After noninvasive tests, electrophysiological study (EPS), electroanatomic mapping (EAM), and EAM- or cardiac magnetic resonance imaging-guided EMB was performed, following a prespecified protocol. Sports eligibility status was redefined at 6-month follow-up. RESULTS: From our sample, 188 athletes (82.8%) underwent EAM and EPS, and 42 (15.2%) underwent EMB. A diagnosis of heart disease could be formulated in 30% of the study population (67/227; 95% confidence interval [CI] 0.24-0.36) after noninvasive tests; in 37% (83/227; 95% CI 31%-43%) after EPS and EAM; and in 45% (102/227; 95% CI 39%-51%) after EMB. In the subset of athletes undergoing EMB, invasive diagnostic workup allowed diagnostic reclassification of half of the athletes (n = 21 [50%]). Reclassification was particularly common among subjects without definitive findings after noninvasive evaluation (n = 23; 87% reclassified). History of syncope, abnormal echocardiogram, presence of late gadolinium enhancement, and abnormal EAM were linked to sports ineligibility at 6-month follow-up. CONCLUSION: A comprehensive invasive workup provided additional diagnostic elements and could improve the sports eligibility assessment of athletes presenting with VAs. The extensive invasive evaluation presented could be especially helpful when noninvasive tests show unclear findings.

Etiology and Outcome of Catheter Ablation in Patients With Onset of Atrial Fibrillation <45 Years of Age.

Etiologic factors and long-term outcomes of catheter ablation of atrial fibrillation (AF) in young patients have not been well characterized. This study aimed to analyze the etiologic factors and outcomes of pulmonary vein isolation (PVI) in patients with young-onset AF (young-AF, defined as having first documented episode <45 years). Consecutive patients with young-AF undergoing PVI (n = 197) in 2 academic centers were enrolled and followed for 36.1 ± 24.5 months. A control group of patients with AF onset ≥45 years (n = 554) was included. The most frequent risk factors in young-AF were intensive exercise (25%), moderate-to-heavy alcohol consumption (23%), and familial AF (22%). Compared with patients with AF onset ≥45-year, patients with young-AF were more often men (82% vs 66%, p <0.001), had more frequently paroxysmal AF (81% vs 60%, p <0.001), had less left atrial dilatation (40.9 ± 6.2 mm vs 44.2 ± 7.2 mm, p <0.001), and had lower 4-year recurrence rate after last PVI procedure (22% vs 45%, p <0.001). In young-AF, structural heart disease (SHD) was the only independent predictor of recurrence. Patients with young-AF selected to undergo cryoballoon (CB) ablation were younger (35.0 ± 7.7 vs 36.6 ± 6.7 years, p = 0.035) and had less persistent AF (6% vs 24%, p = 0.004) and coronary artery disease (2% vs 7%, p = 0.02) compared with radiofrequency ablation. After excluding patients with persistent AF and SHD, there was no difference in single procedural success between radiofrequency or CB PVI (27% vs 17%, p = 0.11). In conclusion, patients with young-AF have diverse etiologies and high single and multiprocedural PVI successes. SHD is the only independent predictor of recurrence. In patients with young-AF, there is a selection bias for CB ablation.

Key characteristics for effective acute pulmonary vein isolation when using a novel cryoballoon technology: insights from the CHARISMA registry.

PURPOSE: A new cryoballoon (CB) technology (POLARx™; Boston Scientific) for pulmonary vein (PV) isolation in patients with atrial fibrillation (AF) has recently been introduced. The aim of this study was to evaluate procedural and biophysical parameters resulting in acute PV isolation when using this new CB. METHODS: We assessed the first 69 consecutive patients indicated for AF ablation who underwent PV isolation by means of a novel CB system. Procedural metrics were prospectively recorded. RESULTS: A total of 274 PVs were targeted in 69 patients. PV isolation was achieved in all patients by means of cryoablation alone. The median time to isolation (TTI) was 44 [31-68] s (median temperature at TTI = - 49 [- 53 to - 41] °C). The median duration of CB ablation was 180 [180 to 240] s. The median nadir temperature was - 56.0 [- 61 to - 52] °C, and the median thaw time to 0 °C was 18 [15-21] s. The median grade of PV occlusion was 4 [3 to 4]. On the basis of ROC analysis, we defined the following cut-off values for acute PV isolation: - 56 °C for nadir temperature (sensitivity = 73.3%, specificity = 64.6%, AUC = 0.716; positive predictive value = 88.1%), 30 s for TTT (60.2%, 53.3%, 0.578; 79.7%), thaw time > 17 s (65.3%, 70.0%, 0.709; 86.9%), and grade of PV occlusion = 4 (79.4%, 66.7%, 0.738; 88.5%). No major procedure-related adverse events were observed at 30-day post-procedure. CONCLUSIONS: The new POLARx™ CB appears to be effective and safe. A nadir temperature of - 56 °C, a thaw time to 0 °C ≥ 17 s, and complete PV occlusion were the best predictors of acute PV isolation. CLINICAL TRIAL REGISTRATION: Catheter Ablation of Arrhythmias with a High-Density Mapping System in Real-World Practice (CHARISMA). URL: http://clinicaltrials.gov/Identifier : NCT03793998. Registration date: January 4, 2019.

Two-Step Synthesis of Bismuth-Based Hybrid Halide Perovskite Thin-Films.

Lead halide perovskites have been revolutionary in the last decade in many optoelectronic sectors. Their bismuth-based counterparts have been considered a good alternative thanks to their composition of earth-abundant elements, good chemical stability, and low toxicity. Moreover, their electronic structure is in a quasi-zero-dimensional (0D) configuration, and they have recently been explored for use beyond optoelectronics. A significant limitation in applying thin-film technology is represented by the difficulty of synthesizing compact layers with easily scalable methods. Here, the engineering of a two-step synthesis in an air of methylammonium bismuth iodide compact thin films is reported. The critical steps of the process have been highlighted so that the procedure can be adapted to different substrates and application areas.

Cryoballoon atrial fibrillation ablation: Single-center safety and efficacy data using a novel cryoballoon technology compared to a historical balloon platform.

INTRODUCTION: Catheter ablation is superior to drugs regarding atrial fibrillation (AF) recurrence, symptoms improvement, and mortality reduction in heart failure. POLARx™ is a novel cryoballoon, with technical improvements seeking to improve outcomes. So far, its clinical evidence is restricted to a case report. METHODS: To compare the POLARx™ cryoballoon procedural safety and efficacy to the already established Arctic Front Advance PRO™ (AFAP) in a single-center cohort study, consecutive patients undergoing AF cryoablation with the POLARx™ were enrolled. Data were prospectively gathered. POLARx™ patients were compared with a historical cohort of patients submitted to AF cryoablation with the AFAP. RESULTS: Seventy patients were analyzed, 20 in POLARx™, and 50 in the AFAP group. They all underwent first-time pulmonary vein isolation, 77% were male, 94% had paroxysmal AF, median age was 62.5 years, median CHA2 DS2 -VASc 1, left-atrium size 34 ml/m², and 65% were receiving anticoagulation. The primary end-point, all pulmonary veins isolation, was 100% in both groups. The complication rate was similar (0% POLARx™ vs. 5.7% AFAP, p = .39). The median total procedural time was longer in the POLARx™ group (90 min vs. 60 min, p < .001), but the overall time-to-isolation (TTI; 44.8 s vs. 39 s, p = .253) and ablation time (15 min vs. 13.7 min, p = .122) was similar between POLARx™ and AFAP groups, respectively. Despite equal TTI, the POLARx™ had a lower minimal temperature reached (-57°C vs -47°C, p < .001). CONCLUSION: The novel POLARx™ cryoballoon had similar efficacy and safety compared with the AFAP. It was also associated with longer procedural times, similar TTI, and lower minimum temperature reached.

Safety, effectiveness, and quality of life following pulmonary vein isolation with a multi-electrode radiofrequency balloon catheter in paroxysmal atrial fibrillation: 1-year outcomes from SHINE.

AIMS: To evaluate the safety and effectiveness of a compliant multi-electrode radiofrequency balloon catheter (RFB) used with a multi-electrode diagnostic catheter for pulmonary vein isolation (PVI). METHODS AND RESULTS: This prospective, multicentre, single-arm study was conducted at six European sites and enrolled patients with symptomatic paroxysmal atrial fibrillation. The primary effectiveness endpoint was entrance block in treated pulmonary veins (PVs) after adenosine/isoproterenol challenge. The primary safety endpoint was the occurrence of primary adverse events (PAEs) within 7 days. Cerebral magnetic resonance imaging and neurological assessments were performed pre- and post-ablation in a subset of patients. Atrial arrhythmia recurrence was assessed over 12 months via transtelephonic and Holter monitoring. Quality of life was assessed by the Atrial Fibrillation Effect on Quality of Life (AFEQT) questionnaire. Of 85 patients undergoing ablation per study protocol, PV entrance block was achieved in all (one PV required touch-up with a focal catheter). Acute reconnection of ≥1 PVs after adenosine/isoproterenol challenge was observed in 9.3% (30/324) of PVs ablated. Post-ablation, silent cerebral lesions were detected in 9.7% (3/31) of patients assessed, all of which was resolved at 1-month follow-up. One patient experienced a PAE (retroperitoneal bleed). Freedom from documented symptomatic and all arrhythmia was 72.2% and 65.8% at 12 months. Four patients (4.7%) underwent repeat ablation. Significant improvements in all AFEQT subscale scores were seen at 6 and 12 months. CONCLUSION: PVI with the novel RFB demonstrated favourable safety and effectiveness, with low repeat ablation rate and clinically meaningful improvement in quality of life. CLINICALTRIALS.GOV REGISTRATION NUMBER: NCT03437733.

High-density mapping validation of antral pulmonary vein isolation and posterior wall isolation created with a new cryoballoon ablation system: The first reported case.

Cryoballoon ablation is a recognized and widespread method for pulmonary vein isolation. For many years the impossibility of using it to create additional lines was considered a drawback of this approach. However, recently, the technique was adapted to allow the creation of rooflines, and potentially also inferior lines. In this article, we present the first reported case of a patient submitted to pulmonary vein isolation plus posterior wall isolation using the novel Boston POLAR X™ cryoballoon exclusively. To confirm the quality of the lesions, the patient underwent pre and postablation high-density mapping.

An ablation index operator-independent approach to improve efficacy in atrial fibrillation ablation at 24-month follow-up: a single center experience.

PURPOSE: Since the introduction of catheter ablation as a mainstream treatment for atrial fibrillation (AF), several technical improvements have been put forward. In this contest, Ablation Index (AI) is an accurate ablation quality marker by incorporating power, delivery time, contact force (CF), and catheter stability in a weighted formula. The aim of our study is to evaluate the efficacy of AI-guided AF ablation over 24 month follow-up. METHODS: We evaluated 72 consecutive patients with drug-refractory paroxysmal (66.7%) and early-persistent AF (33.3%) undergoing AI-guided ablation, compared to 72 propensity-matched control patients who underwent CF-guided procedure. All procedures were performed by three skilled operators. Data concerning procedural characteristics and long-term freedom from AF recurrence were analyzed. RESULTS: At 24-month follow-up, Kaplan-Meier curves of AF recurrence were significantly lower in AI group than in CF group (15.5% vs. 30.6%; p 0.042). These findings were confirmed in a sub analysis regardless of the continued use of antiarrhythmic drugs in the follow-up (42.2% in AI-guided group and 66.7% in CF-guided group, p 0.004). At 24-month follow-up, a positive trend in the decrease of arrhythmia recurrences was observed in AI-guided ablation for all operators. CONCLUSIONS: AI-guided ablation results more effective than CF-guided ablation as demonstrated by a lower incidence of AF recurrences regardless of the use of antiarrhythmic drugs in the follow-up. Each operator seems to improve the long-term success using an AI-guided ablation, thus showing both the efficacy and the reproducibility of this approach.

CMR for Identifying the Substrate of Ventricular Arrhythmia in Patients With Normal Echocardiography.

OBJECTIVES: This study sought to determine whether cardiac magnetic resonance (CMR) may identify structural heart disease (SHD) in patients with ventricular arrhythmia who had echocardiography ruled out pathological findings. BACKGROUND: Approximately one-half of sudden cardiac deaths are attributable to malignant VA. Echocardiography is commonly used to identify SHD that is the most frequent substrate of VA. METHODS: A single-center prospective study was conducted in consecutive patients with significant VA, categorized as >1,000 but <10,000 ventricular ectopic beats [VEBs]/24 h; ≥10,000 VEBs/24 h; nonsustained ventricular tachycardia, sustained ventricular tachycardia, or a history of resuscitated cardiac arrest, and no pathological findings at echocardiography, requiring a clinically indicated CMR. Primary endpoint was CMR detection of SHD. Secondary endpoints were a composite of CMR detection of SHD and abnormal findings not specific for a definite SHD diagnosis. RESULTS: A total of 946 patients were enrolled (mean 41 ± 16 years of age; 64% men). CMR studies were used to diagnose SHD in 241 patients (25.5%) and abnormal findings not specific for a definite SHD diagnosis in 187 patients (19.7%). Myocarditis (n = 91) was the more frequent disease, followed by arrhythmogenic cardiomyopathy (n = 55), dilated cardiomyopathy (n = 39), ischemic heart disease (n = 22), hypertrophic cardiomyopathy (n = 13), congenital cardiac disease (n = 10), left ventricle noncompaction (n = 5), and pericarditis (n = 5). The strongest univariate and multivariate predictors of SHD on CMR images were chest pain (odds ratios [OR]: 2.52 and 2.38, respectively) and sustained ventricular tachycardia (ORs: 2.67 and 2.23, respectively). CONCLUSIONS: SHD was able to be identified on CMR imaging in a sizable number of patients with significant VA and completely normal echocardiography. Chest pain and sustained ventricular tachycardia were the strongest predictors of positive CMR imaging results.

Pulmonary Vein Isolation With a Novel Multielectrode Radiofrequency Balloon Catheter That Allows Directionally Tailored Energy Delivery: Short-Term Outcomes From a Multicenter First-in-Human Study (RADIANCE).

BACKGROUND: Balloon catheters facilitate pulmonary vein (PV) isolation, but current technology is limited by either a single ablative element, potentially leading to over-ablation of thin and under-ablation of thick tissue, or prolonged procedure times. Visualized by electroanatomical mapping, a novel compliant radiofrequency balloon catheter with 10 irrigated, flexible electrodes can simultaneously and independently deliver energy. Herein, we evaluated the feasibility, safety, and short-term efficacy of this radiofrequency balloon in a multicenter, single-arm, first-in-human study. METHODS: Paroxysmal atrial fibrillation patients underwent PV isolation with the radiofrequency balloon delivered over-the-wire with a deflectable 13.5F sheath. Radiofrequency energy is delivered simultaneously from all electrodes-up to 30 s posteriorly and 60 s anteriorly. Esophageal temperature was monitored in all patients; the esophagus was also mechanically deviated in 10 patients. RESULTS: At 4 sites, 39 patients were treated by 9 operators. The radiofrequency balloon isolated all targeted PVs (152/152), 79.6% with a single application. Electrical reconnection occurred in only 7/150 PVs (4.7%) on adenosine/isoproterenol challenge. Mean procedure, balloon dwell, and fluoroscopy times were 101.6, 40.5, and 17.4 min, respectively. Esophagogastroduodenoscopy revealed asymptomatic esophageal erythema in 5 patients. Phrenic nerve palsy occurred in a patient in whom phrenic pacing was inadvertently omitted. At 3 months, imaging revealed no PV stenosis, and early atrial arrhythmia recurrence occurred in only 10/39 (25.6%) patients. CONCLUSIONS: The compliant radiofrequency balloon can directionally tailor energy delivery for efficient, effective, and reasonably safe acute PV isolation. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov. Unique identifier: ISRCTN 11764506.

Acute outcome after a single cryoballoon ablation: Comparison between Arctic Front Advance and Arctic Front Advance PRO.

BACKGROUND: The novel fourth-generation cryoballoon (CB4) potentially allows for enhanced catheter maneuverability and more frequent capture of pulmonary vein (PV) potentials which can be used to monitor real-time PV isolation (PVI). The aim of our study is to compare the acute procedural endpoints between the CB4 and second-generation cryoballoon (CB2). METHODS: A single-center retrospective chart review was used to examine 50 consecutive patients with drug-refractory atrial fibrillation undergoing CB4-based PVI. Procedural data and acute success of these patients were compared to 50 propensity-matched controls who underwent cryoballoon ablation procedure using CB2. RESULTS: Procedures performed with the CB4 showed significant shorter fluoroscopy time (14.8 ± 5.5 vs 18.0 ± 6.5 minutes, P = .04), shorter procedure time (58.3 ± 15.7 vs 65.3 ± 21 minutes, P = .13), and shorter total ablation time (10.8 ± 1.5 vs 13.8 ± 1.9 minutes, P = .42). The real-time PVI visualization rate was 33.3% in the CB2 group and 74.7% in the CB4 group (P < .001). CB4 was correlated to significant increase of acute real-time recordings with regard to all the single PV (left superior PV: 58% vs 84%, P = .02; left inferior PV: 26% vs 71%, P = .001; right superior PV 29% vs 61%, P = .01; and right inferior PV 19% vs 58%, P = .002). CONCLUSION: The CB4 was more often able to capture real-time recordings of PV potentials and the subsequent acute PV isolation.

Cryoballoon pulmonary vein ablation and left atrial appendage closure combined procedure: A long-term follow-up analysis.

BACKGROUND: The combined left atrial appendage closure (LAAC) and cryoenergy pulmonary vein isolation (PVI) procedure has been proven safe and effective in managing stroke in patients with nonvalvular atrial fibrillation (AF), although most data refer to procedures performed using radiofrequency as the main energy source. OBJECTIVE: The purpose of this study was to evaluate long-term follow-up of patients with AF undergoing concomitant LAAC and cryoenergy PVI. METHODS: Patients undergoing LAAC and cryoballoon PVI at our institution were enrolled. At 3, 6, and 24 months from the index procedure, we determined the atrial arrhythmia recurrence rate, the extent of LAAC, and the rate of cerebrovascular/bleeding events. RESULTS: Forty-nine patients (mean age 69 ± 8 years; 32/49 (67%) men; CHA2DS2-VASc score 2.8 ± 1.2; HAS-BLED score 3 ± 1) with a guideline-recommended LAAC indication were included. Acute PVI and complete LAAC were achieved in 100% of patients. All patients completed at least 24 months of follow-up. At 8 weeks and 6 months, complete or satisfactory (<5 mm leak) LAAC rates were achieved in 40 (82%) and 9 (18%) and in 42 (86%) and 7 (14%) of patients, respectively. The overall freedom from atrial arrhythmia rate at 24 months was 29 (60%), and 45 (92%) of patients were off antithrombotic drugs. The observed annualized stroke and bleeding rates were 1% and 2%, respectively, a 71% and 60% risk reduction in comparison to event rates predicted from CHA2DS2-VASc and HAS-BLED scores. CONCLUSION: Concomitant cryoballoon ablation and LAAC procedures appear safe and effective at long-term follow-up, with high antithrombotic drug withdrawal rates at 24 months.

The influence of DCDC2 risk genetic variants on reading: Testing main and haplotypic effects.

Developmental dyslexia (DD) is a complex neurodevelopmental heritable disorder. Among DD candidate genes, DCDC2 is one of the most replicated, with rs793862, READ1 and rs793842 likely contribute to phenotypic variability in reading (dis)ability. In this study, we tested the effects of these genetic variants on DD as a categorical trait and on quantitative reading-related measures in a sample of 555 Italian nuclear families with 930 offspring, of which 687 were diagnosed with DD. We conducted both single-marker and haplotype analyses, finding that the READ1-deletion was significantly associated with reading, whereas no significant haplotype associations were found. Our findings add further evidence to support the hypothesis of a DCDC2 contribution to inter-individual variation in distinct indicators of reading (dis)ability in transparent languages (i.e., reading accuracy and speed), suggesting a potential pleiotropic effect.

Lesion index: a novel guide in the path of successful pulmonary vein isolation.

PURPOSE: Previous studies indicate force time integral (FTI) as a radiofrequency (RF) lesion quality marker, while not considering power supply. Tacticath™ Quartz catheter provides Lesion index (LSI), a lesion quality marker derived by contact force (CF), power supply, and RF time combined. Our aim is to assess LSI and FTI correlation and a LSI-related cutoff of atrial fibrillation (AF) recurrences 12 months after pulmonary vein isolation (PVI). METHODS: We retrospectively enrolled 37 patients who underwent RF ablation using Tacticath™ Quartz catheter. AF recurrence rate was evaluated 3, 6, and 12 months after PVI procedure. RESULTS: AF recurrence was detected in 32% of patients. FTI mean value was significantly lower in left superior pulmonary vein (LSPV: 256 ± 86 gs vs 329 ± 117 gs, p = 0.05) and right inferior pulmonary vein (RIPV: 253 ± 128 gs vs 394 ± 123 gs p = 0.006) in patients with AF recurrences; no significant differences were found in right superior pulmonary vein (RSPV) and left inferior pulmonary vein (LIPV). LSI instead was significantly higher for all veins in patients without AF recurrences: LSPV (5.2 ± 0.7 vs 4.6 ± 0.8, p = 0.03), LIPV (5.0 ± 0.8 vs 4.5 ± 0.6, p = 0.04), RSPV (5.5 ± 0.6 vs 5.1 ± 0.6, p = 0.05), and RIPV (5.5 ± 0.7 vs 4.7 ± 0.8, p = 0.006). Receiver operator characteristic curve suggests 5.3 as LSI overall cutoff value predicting freedom from disease at 1-year follow-up. CONCLUSIONS: Our preliminary data suggest that a LSI mean value higher than 5.3 can be considered a good predictor of AF freedom at 1-year follow-up.

Use of Ablation Index-Guided Ablation Results in High Rates of Durable Pulmonary Vein Isolation and Freedom From Arrhythmia in Persistent Atrial Fibrillation Patients: The PRAISE Study Results.

Background Catheter ablation for persistent atrial fibrillation (AF) is associated with less favorable outcomes than for paroxysmal AF. Substrate modification is often added to pulmonary vein isolation (PVI) to try to improve success rates. Recent studies have shown improved clinical outcomes with use of regional ablation index (AI) targets for PVI. We hypothesized that prospective use of AI-guided PVI in persistent AF patients would result in a low rate of PV reconnection at repeat electrophysiology study and that a high success rate can be achieved with durable PVI alone. Methods Forty consecutive patients with persistent AF underwent AI-guided PVI with target values of 550 for anterior and 400 for posterior left atrial regions, followed by a protocol-mandated repeat procedure after 2 months. Patients were monitored for atrial tachyarrhythmia recurrence via daily plus symptom-initiated ECG recordings for 12 months. Recurrence was defined as ≥30 seconds of any atrial tachyarrhythmia after a 3-month blanking period. Results PV reconnection was seen at repeat electrophysiology study in 22% of patients, affecting 7% of PVs. Ablation on the intervenous carina was required in 44% patients to achieve durable PVI. Atrial tachyarrhythmia recurrence was documented in 8 (20%) patients, only one of whom had PV reconnection at repeat study. At 12 months, 38/40 (95%) patients were in sinus rhythm, with 4 (10%) patients having started antiarrhythmic drugs. Higher body mass index and excess alcohol consumption were the only significant factors associated with atrial tachyarrhythmia recurrence. Conclusions Use of AI targets results in a high level of durable PVI. A good clinical outcome can be achieved in the great majority of persistent AF patients with AI-guided PVI alone. Clinical Trial Registration URL: https://www.clinicaltrials.gov . Unique identifier: NCT02628730.