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1.
Heart Rhythm ; 2020 Dec 24.
Artigo em Inglês | MEDLINE | ID: mdl-33359877

RESUMO

BACKGROUND: A male predominance in Brugada syndrome (BrS) has been widely reported and scarce information is available in female patients with BrS. OBJECTIVE: We aim to investigate the clinical characteristics and long-term prognosis of women with BrS. METHODS: multicentre retrospective study of patients diagnosed with BrS and previous electrophysiological study (EPS). RESULTS: Among 770 patients, 177 (23%) were females. At presentation, 150 (84.7%) were asymptomatic. Females presented less frequently a type 1ECG pattern (30.5% vs 55.0%;p<0.001), higher rate of family history of SCD (49.7% vs 29.8%;p<0.001) and less sustained ventricular arrhythmias on EPS (8.5% vs 15.1%;p=0.009). Genetic test was performed in 79 females (45% of the sample) being positive in 34 (19%). An ICD was implanted in 48 (27.1%) females. During a mean follow up of 122,17 months (SD±57.28), 5 (2.8%) females experience a cardiovascular event as compared to 42 (7.1%) males (p=0.04). On multivariable analysis, a positive genetic test (18.71; 95% CI 1.82-192.53; p=0.01), and atrial fibrillation (OR 21.12; 95% CI 1.27-350.85; p=0.03) were predictive of arrhythmic events, while ventricular arrhythmias on EPS (neither with 1 or 3 nor 3 extrastimulus) were not. CONCLUSION: Women with BrS represent a minor faction among patients with BrS, and although rate of events is low, it does not constitute a risk-free group. Neither clinical risk factors nor EPS predict future arrhythmic events. Only atrial fibrillation and positive genetic test were identified as risk factors for future arrhythmic events.

2.
Europace ; 2020 Nov 03.
Artigo em Inglês | MEDLINE | ID: mdl-33141150

RESUMO

AIMS : The aim of the study was to investigate differences in clinical outcomes and complication rates among European atrial fibrillation (AF) ablation centres related to the volume of AF ablations performed. METHODS AND RESULTS : Data for this analysis were extracted from the ESC EHRA EORP European AF Ablation Long-Term Study Registry. Based on 33rd and 67th percentiles of number of AF ablations performed, the participating centres were classified into high volume (HV) (≥ 180 procedures/year), medium volume (MV) (<180 and ≥74/year), and low volume (LV) (<74/year). A total of 91 centres in 26 European countries enrolled in 3368 patients. There was a significantly higher reporting of cardiovascular complications and stroke incidence in LV centres compared with HV and MV (P = 0.039 and 0.008, respectively) and a lower success rate after AF ablation (55.3% in HV vs. 57.2% in LV vs. 67.4% in MV centres, P < 0.001), despite lower CHA2DS2-VASc score of patients, enrolled in LVs and less complex ablation techniques used. Adjustments of confounding factors (including type of AF ablation) led to elimination of these differences. CONCLUSION : Low-volume centres tended to present slightly higher cardiovascular complications' and stroke incidence and a lower unadjusted success rate after AF ablation, despite the fact that ablation procedures and patients were of lower risk compared with MV and HV centres. On the other hand, adjusted overall complication and recurrence rates were non-significantly different among different volume centres, a fact reflecting the heterogeneity of patient and procedural profiles, and a counterbalance between expertise and risk level among participating centres.

3.
Europace ; 2020 Nov 23.
Artigo em Inglês | MEDLINE | ID: mdl-33227129

RESUMO

AIMS: Myocardial fibrosis is a hallmark of atrial fibrillation (AF) and its characterization could be used to guide ablation procedures. Late gadolinium enhanced-magnetic resonance imaging (LGE-MRI) detects areas of atrial fibrosis. However, its accuracy remains controversial. We aimed to analyse the accuracy of LGE-MRI to identify left atrial (LA) arrhythmogenic substrate by analysing voltage and conduction velocity at the areas of LGE. METHODS AND RESULTS: Late gadolinium enhanced-magnetic resonance imaging was performed before ablation in 16 patients. Atrial wall intensity was normalized to blood pool and classified as healthy, interstitial fibrosis, and dense scar tissue depending of the resulting image intensity ratio. Bipolar voltage and local conduction velocity were measured in LA with high-density electroanatomic maps recorded in sinus rhythm and subsequently projected into the LGE-MRI. A semi-automatic, point-by-point correlation was made between LGE-MRI and electroanatomical mapping. Mean bipolar voltage and local velocity progressively decreased from healthy to interstitial fibrosis to scar. There was a significant negative correlation between LGE with voltage (r = -0.39, P < 0.001) and conduction velocity (r = -0.25, P < 0.001). In patients showing dilated atria (LA diameter ≥45 mm) the conduction velocity predictive capacity of LGE-MRI was weaker (r = -0.40 ± 0.09 vs. -0.20 ± 0.13, P = 0.02). CONCLUSIONS: Areas with higher LGE show lower voltage and slower conduction in sinus rhythm. The enhancement intensity correlates with bipolar voltage and conduction velocity in a point-by-point analysis. The performance of LGE-MRI in assessing local velocity might be reduced in patients with dilated atria (LA diameter ≥45).

4.
Int J Mol Sci ; 21(19)2020 Sep 28.
Artigo em Inglês | MEDLINE | ID: mdl-32998306

RESUMO

Brugada syndrome is a rare inherited arrhythmogenic disease leading to ventricular fibrillation and high risk of sudden death. In 1998, this syndrome was linked with a genetic variant with an autosomal dominant pattern of inheritance. To date, rare variants identified in more than 40 genes have been potentially associated with this disease. Variants in regulatory regions, combinations of common variants and other genetic alterations are also proposed as potential origins of Brugada syndrome, suggesting a polygenic or oligogenic inheritance pattern. However, most of these genetic alterations remain of questionable causality; indeed, rare pathogenic variants in the SCN5A gene are the only established cause of Brugada syndrome. Comprehensive analysis of all reported genetic alterations identified the origin of disease in no more than 40% of diagnosed cases. Therefore, identifying the cause of this rare arrhythmogenic disease in the many families without a genetic diagnosis is a major current challenge in Brugada syndrome. Additional challenges are interpretation/classification of variants and translation of genetic data into clinical practice. Further studies focused on unraveling the pathophysiological mechanisms underlying the disease are needed. Here we provide an update on the genetic basis of Brugada syndrome.

5.
Circ Arrhythm Electrophysiol ; 13(11): e008707, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-33031713

RESUMO

BACKGROUND: Myocardial fibrosis is key for atrial fibrillation maintenance. We aimed to test the efficacy of ablating cardiac magnetic resonance (CMR)-detected atrial fibrosis plus pulmonary vein isolation (PVI). METHODS: This was an open-label, parallel-group, randomized, controlled trial. Patients with symptomatic drug-refractory atrial fibrillation (paroxysmal and persistent) undergoing first or repeat ablation were randomized in a 1:1 basis to receive PVI plus CMR-guided fibrosis ablation (CMR group) or PVI alone (PVI-alone group). The primary end point was the rate of recurrence (>30 seconds) at 12 months of follow-up using a 12-lead ECG and Holter monitoring at 3, 6, and 12 months. The analysis was conducted by intention-to-treat. RESULTS: In total, 155 patients (71% male, age 59±10, CHA2DS2-VASc 1.3±1.1, 54% paroxysmal atrial fibrillation) were allocated to the PVI-alone group (N=76) or CMR group (N=79). First ablation was performed in 80% and 71% of patients in the PVI-alone and CMR groups, respectively. The mean atrial fibrosis burden was 12% (only ≈50% of patients had fibrosis outside the pulmonary vein area). One hundred percent and 99% of patients received the assigned intervention in the PVI-alone and CMR group, respectively. The primary outcome was achieved in 21 patients (27.6%) in the PVI-alone group and 22 patients (27.8%) in the CMR group (odds ratio: 1.01 [95% CI, 0.50-2.04]; P=0.976). There were no differences in the rate of adverse events (3 in the CMR group and 2 in the PVI-alone group; P=0.68). CONCLUSIONS: A pragmatic ablation approach targeting CMR-detected atrial fibrosis plus PVI was not more effective than PVI alone in an unselected population undergoing atrial fibrillation ablation with low fibrosis burden. Registration: URL: https://www.clinicaltrials.gov. Unique identifier: NCT02698631.

6.
Europace ; 2020 Oct 16.
Artigo em Inglês | MEDLINE | ID: mdl-33063124

RESUMO

AIMS: Our aim was to analyse whether using delayed enhancement cardiac magnetic resonance imaging (DE-CMR) to localize veno-atrial gaps in atrial fibrillation (AF) redo ablation procedures improves outcomes during follow-up. METHODS AND RESULTS: We conducted a case-control study with 35 consecutive patients undergoing a DE-CMR-guided Repeat-pulmonary vein isolation (Re-PVI) procedure. Those with more extensive ablations (e.g. roof lines, box) were excluded. Patients were matched for age, sex, AF pattern, and left atrial dimension with 35 patients who had undergone a conventional Re-PVI procedure guided with a three dimensional (3D)-navigation system. Procedural characteristics were recorded, and patients were followed for 24 months in a specialized outpatient clinic. The primary endpoint was freedom from recurrent AF, atrial tachycardia, or flutter. The duration of CMR-guided procedures was shorter compared to the conventional group (161 ± 52 vs. 195 ± 72 min, respectively, P = 0.049), with no significant differences in fluoroscopy or total radiofrequency time. At the 2-year follow-up, more patients in the DE-CMR-guided group remained free from recurrences compared with the conventional group (70% vs. 39%, respectively, P = 0.007). In univariate Cox-regression analyses, AF pattern [persistent AF, hazard ratio (HR) 2.66 (1.27-5.46), P = 0.006] and the use of DE-CMR [HR 0.36 (0.17-0.79), P = 0.009] predicted recurrences during follow-up; both factors remained independent predictors in multivariate analyses. CONCLUSION: The substrate characterization provided by DE-CMR facilitates the identification of anatomical veno-atrial gaps and associates with shorter procedures and better clinical outcomes in repeated AF ablation procedures.

7.
Genet Med ; 2020 Sep 07.
Artigo em Inglês | MEDLINE | ID: mdl-32893267

RESUMO

PURPOSE: Stringent variant interpretation guidelines can lead to high rates of variants of uncertain significance (VUS) for genetically heterogeneous disease like long QT syndrome (LQTS) and Brugada syndrome (BrS). Quantitative and disease-specific customization of American College of Medical Genetics and Genomics/Association for Molecular Pathology (ACMG/AMP) guidelines can address this false negative rate. METHODS: We compared rare variant frequencies from 1847 LQTS (KCNQ1/KCNH2/SCN5A) and 3335 BrS (SCN5A) cases from the International LQTS/BrS Genetics Consortia to population-specific gnomAD data and developed disease-specific criteria for ACMG/AMP evidence classes-rarity (PM2/BS1 rules) and case enrichment of individual (PS4) and domain-specific (PM1) variants. RESULTS: Rare SCN5A variant prevalence differed between European (20.8%) and Japanese (8.9%) BrS patients (p = 5.7 × 10-18) and diagnosis with spontaneous (28.7%) versus induced (15.8%) Brugada type 1 electrocardiogram (ECG) (p = 1.3 × 10-13). Ion channel transmembrane regions and specific N-terminus (KCNH2) and C-terminus (KCNQ1/KCNH2) domains were characterized by high enrichment of case variants and >95% probability of pathogenicity. Applying the customized rules, 17.4% of European BrS and 74.8% of European LQTS cases had (likely) pathogenic variants, compared with estimated diagnostic yields (case excess over gnomAD) of 19.2%/82.1%, reducing VUS prevalence to close to background rare variant frequency. CONCLUSION: Large case-control data sets enable quantitative implementation of ACMG/AMP guidelines and increased sensitivity for inherited arrhythmia genetic testing.

8.
J Arrhythm ; 2020 Jun 25.
Artigo em Inglês | MEDLINE | ID: mdl-32837667

RESUMO

Coronavirus disease 2019 (COVID-19), caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2), started in the city of Wuhan late in 2019. Within a few months, the disease spread toward all parts of the world and was declared a pandemic on March 11, 2020. The current health care dilemma worldwide is how to sustain the capacity for quality services not only for those suffering from COVID-19 but also for non-COVID-19 patients, all while protecting physicians, nurses, and other allied health care workers.

9.
Europace ; 2020 Aug 29.
Artigo em Inglês | MEDLINE | ID: mdl-32860039

RESUMO

AIMS: To develop quality indicators (QIs) that may be used to evaluate the quality of care and outcomes for adults with atrial fibrillation (AF). METHODS AND RESULTS: We followed the ESC methodology for QI development. This methodology involved (i) the identification of the domains of AF care for the diagnosis and management of AF (by a group of experts including members of the ESC Clinical Practice Guidelines Task Force for AF); (ii) the construction of candidate QIs (including a systematic review of the literature); and (iii) the selection of the final set of QIs (using a modified Delphi method). Six domains of care for the diagnosis and management of AF were identified: (i) Patient assessment (baseline and follow-up), (ii) Anticoagulation therapy, (iii) Rate control strategy, (iv) Rhythm control strategy, (v) Risk factor management, and (vi) Outcomes measures, including patient-reported outcome measures (PROMs). In total, 17 main and 17 secondary QIs, which covered all six domains of care for the diagnosis and management of AF, were selected. The outcome domain included measures on the consequences and treatment of AF, as well as PROMs. CONCLUSION: This document defines six domains of AF care (patient assessment, anticoagulation, rate control, rhythm control, risk factor management, and outcomes), and provides 17 main and 17 secondary QIs for the diagnosis and management of AF. It is anticipated that implementation of these QIs will improve the quality of AF care.

11.
Int J Cardiol ; 320: 161-167, 2020 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-32603740

RESUMO

BACKGROUND: The electrocardiographic (ECG) definition of Brugada syndrome (BS) can be challenging because benign ECG abnormalities, such as right bundle branch block (RBBB), may mimic pathological ECG characteristics of BrS. However, although myocardial delay and deformation can be quantified by advanced imaging, it has not yet been used to differentiate between BrS and RBBB. The aim of this study was to characterize the electro-mechanical behavior of the heart of patients with type-1 BrS and isolated complete RBBB in order to differentiate these conditions. METHODS: In this two-center study, 66 subjects were analyzed by standard and speckle-tracking echocardiography (STE): 22 type-1 BrS, 24 isolated complete RBBB, and 20 healthy subjects. The participants were not treated by any drug potentially influencing myocardial conduction. RESULTS: Standard echocardiographic parameters did not differ among the groups. The greatest right ventricular (RV) mechanical dispersion was found in RBBB. Mean absolute deviations (MADs) of time-to-peak longitudinal strain calculated for each left ventricular (LV) region were greater in patients with RBBB as compared to BrS (p < .01). No differences were found between BrS and controls (p = .36). MADs in the basal segments in RBBB group were greater than MADs found in BrS group and controls (37.3 ms vs. 26.7 ms and 29.0 ms, respectively, p < .05). The greatest differences were found in the antero-septal, anterior, lateral, and infero-septal basal segments. CONCLUSIONS: Advanced echocardiographic techniques may help to differentiate between BrS and RBBB. Indeed, STE allows to identify an electro-mechanical conduction delay in RBBB patients that is not found in patients affected by type-1 BrS.

12.
Circ Arrhythm Electrophysiol ; 13(7): e009007, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32692972
13.
J Clin Med ; 9(6)2020 Jun 15.
Artigo em Inglês | MEDLINE | ID: mdl-32549272

RESUMO

Inherited arrhythmogenic syndromes are the primary cause of unexpected lethal cardiac episodes in young people. It is possible that the first sign of the condition may be sudden death. Inherited arrhythmogenic syndromes are caused by genetic defects that may be analyzed using different technical approaches. A genetic alteration may be used as a marker of risk for families who carry the genetic alterations. Therefore, the early identification of the responsible genetic defect may help the adoption of preventive therapeutic measures focused on reducing the risk of lethal arrhythmias. Here, we describe the use of massive sequencing technologies and the interpretation of genetic analyses in inherited arrhythmogenic syndromes.

16.
Europace ; 2020 Jun 29.
Artigo em Inglês | MEDLINE | ID: mdl-32596731

RESUMO

This paper belongs to a series of recommendation documents for participation in leisure-time physical activity and competitive sports by the European Association of Preventive Cardiology (EAPC). Together with an accompanying paper on supraventricular arrhythmias, this second text deals specifically with those participants in whom some form of ventricular rhythm disorder is documented, who are diagnosed with an inherited arrhythmogenic condition, and/or who have an implanted pacemaker or cardioverter defibrillator. A companion text on recommendations in athletes with supraventricular arrhythmias is published in the European Journal of Preventive Cardiology. Since both texts focus on arrhythmias, they are the result of a collaboration between EAPC and the European Heart Rhythm Association (EHRA). The documents provide a framework for evaluating eligibility to perform sports, based on three elements, i.e. the prognostic risk of the arrhythmias when performing sports, the symptomatic impact of arrhythmias while performing sports, and the potential progression of underlying structural problems as the result of sports.

17.
Artigo em Inglês | MEDLINE | ID: mdl-32514547

RESUMO

AIMS: The European Society of Cardiology (ESC) EURObservational Research Programme (EORP)-Atrial Fibrillation (AF) III Registry aims to identify contemporary patterns in AF management in clinical practice, assess their compliance with the 2016 ESC AF Guidelines, identify major gaps in guideline implementation, characterize the clinical practice settings associated with good versus poor guideline implementation and assess and compare the 1-year outcome of guideline-adherent versus guideline non-adherent management strategies. METHODS AND RESULTS: Consecutive adult AF patients (n=8306) were enrolled between July 1st, 2018 and July 15th, 2019, and individual patient data were prospectively collected across 192 centres and 31 participating countries during the 3-month enrolment period per centre. The Registry collected baseline and 1-year follow-up data in the 8 main domains: patient demographic/enrolment setting, AF diagnosis/characterization, diagnostic assessment, stroke prevention treatments, arrhythmia-directed therapies, integrated AF management, major outcomes (death, non-fatal stroke or systemic embolic event, non-fatal bleeding event) and the quality of life questionnaire. CONCLUSION: The EORP-AF III Registry is an international, prospective registry of care and outcomes of patients treated for AF, which will provide insights into the contemporary patterns in AF management, ESC AF Guidelines implementation in routine practice and barriers to optimal management of this highly prevalent arrhythmia.

19.
Circulation ; 142(4): 324-338, 2020 Jul 28.
Artigo em Inglês | MEDLINE | ID: mdl-32429735

RESUMO

BACKGROUND: Long QT syndrome (LQTS) is a rare genetic disorder and a major preventable cause of sudden cardiac death in the young. A causal rare genetic variant with large effect size is identified in up to 80% of probands (genotype positive) and cascade family screening shows incomplete penetrance of genetic variants. Furthermore, a proportion of cases meeting diagnostic criteria for LQTS remain genetically elusive despite genetic testing of established genes (genotype negative). These observations raise the possibility that common genetic variants with small effect size contribute to the clinical picture of LQTS. This study aimed to characterize and quantify the contribution of common genetic variation to LQTS disease susceptibility. METHODS: We conducted genome-wide association studies followed by transethnic meta-analysis in 1656 unrelated patients with LQTS of European or Japanese ancestry and 9890 controls to identify susceptibility single nucleotide polymorphisms. We estimated the common variant heritability of LQTS and tested the genetic correlation between LQTS susceptibility and other cardiac traits. Furthermore, we tested the aggregate effect of the 68 single nucleotide polymorphisms previously associated with the QT-interval in the general population using a polygenic risk score. RESULTS: Genome-wide association analysis identified 3 loci associated with LQTS at genome-wide statistical significance (P<5×10-8) near NOS1AP, KCNQ1, and KLF12, and 1 missense variant in KCNE1(p.Asp85Asn) at the suggestive threshold (P<10-6). Heritability analyses showed that ≈15% of variance in overall LQTS susceptibility was attributable to common genetic variation (h2SNP 0.148; standard error 0.019). LQTS susceptibility showed a strong genome-wide genetic correlation with the QT-interval in the general population (rg=0.40; P=3.2×10-3). The polygenic risk score comprising common variants previously associated with the QT-interval in the general population was greater in LQTS cases compared with controls (P<10-13), and it is notable that, among patients with LQTS, this polygenic risk score was greater in patients who were genotype negative compared with those who were genotype positive (P<0.005). CONCLUSIONS: This work establishes an important role for common genetic variation in susceptibility to LQTS. We demonstrate overlap between genetic control of the QT-interval in the general population and genetic factors contributing to LQTS susceptibility. Using polygenic risk score analyses aggregating common genetic variants that modulate the QT-interval in the general population, we provide evidence for a polygenic architecture in genotype negative LQTS.

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