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    Wyświetlanie 1-4 z 4
    Autorzy:
    Aziz, Hasina Masha
    Kim, Min Seo
    Tse, Gary
    Zarzecki, Michał
    Won, Hong-Hee
    Matusik, Paweł
    Bijak, Piotr
    García-Zamora, Sebastian
    Opis:
    Brugada syndrome (BrS) is a primary electrical disease associated with life-threatening arrhythmias. It is estimated to cause at least 20% of sudden cardiac deaths (SCDs) in patients with normal cardiac anatomy. In this review paper, we discuss recent advances in complex BrS pathogenesis, diagnostics, and current standard approaches to major arrhythmic events (MAEs) risk stratification. Additionally, we describe a protocol for umbrella reviews to systematically investigate clinical, electrocardiographic, electrophysiological study, programmed ventricular stimulation, and genetic factors associated with BrS, and the risk of MAEs. Our evaluation will include MAEs such as sustained ventricular tachycardia, ventricular fibrillation, appropriate implantable cardioverter–defibrillator therapy, sudden cardiac arrest, and SCDs from previous meta-analytical studies. The protocol was written following the Preferred Reporting Items for Systematic review and Meta-Analysis Protocols (PRISMA-P) guidelines. We plan to extensively search PubMed, Embase, and Scopus databases for meta-analyses concerning risk-stratification in BrS. Data will be synthesized integratively with transparency and accuracy. Heterogeneity patterns across studies will be reported. The Joanna Briggs Institute (JBI) methodology, A MeaSurement Tool to Assess systematic Reviews 2 (AMSTAR 2), and the Grading of Recommendations, Assessment, Development and Evaluation (GRADE) are planned to be applied for design and execution of our evidence-based research. To the best of our knowledge, these will be the first umbrella reviews to critically evaluate the current state of knowledge in BrS risk stratification for life-threatening ventricular arrhythmias, and will potentially contribute towards evidence-based guidance to enhance clinical decisions.
    Dostawca treści:
    Repozytorium Uniwersytetu Jagiellońskiego
    Artykuł
    Tytuł:
    Differences in the rate and yield of genetic testing in patients with brugada syndrome : a systematic review and analysis of cohort studies
    Autorzy:
    Rajan, Rajesh
    Bazoukis, George
    Chung, Cheuk To
    Radford, Danny
    Mok, Ngai Shing
    Lee, Sharen
    Zaklyazminskaya, Elena
    Matusik, Paweł
    Tse, Gary
    Liu, Tong
    Opis:
    Genetic testing is used for the diagnosis and risk stratification of Brugada syndrome (BrS), but few studies have systematically evaluated regional differences and variations of its use worldwide. This study investigated the rates and yields of genetic testing reported by various BrS cohorts. PubMed was searched systematically for cohort studies on BrS patients between January 2002 and April 2022. Of the 60 studies identified, 20 studies contained relevant information. In total, the rate of genetic testing is 59.4% with a yield of 26.3%. The highest rate of genetic testing of 100% was achieved by some centers in China, Japan, France, and Spain, while the lowest rate of genetic testing of 10% was observed in Hong Kong, China. The highest yield of 67% was reported in a Belgium center, while the lowest yield of 10% was reported by centers from Japan. Together this study highlights the variations in both the percentage of patients undergoing genetic testing and its percentage yield.
    Dostawca treści:
    Repozytorium Uniwersytetu Jagiellońskiego
    Artykuł
    Tytuł:
    Clinical characteristics, genetic findings and arrhythmic outcomes of patients with catecholaminergic polymorphic ventricular tachycardia from China : a systematic review
    Autorzy:
    Behnoush, Amir Hossein
    Tse, Gary
    Liu, Tong
    Mahmoudi, Elham
    Lee, Sharen
    Matusik, Paweł
    Pay, Levent
    Jeevaratnam, Kamalan
    Cinier, Goksel
    Radford, Danny
    Zeng, Shaoying
    Chen, Ziliang
    Xia, Yunlong
    Leung, Justin
    Bazoukis, George
    Zhou, Jiandong
    Altinsoy, Meltem
    Coakley-Youngs, Emma
    Garcia-Zamora, Sebastian
    Lakhani, Ishan
    Opis:
    Introduction: Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a rare inherited cardiac ion channelopathy. The present study aims to examine the clinical characteristics, genetic basis, and arrhythmic outcomes of CPVT patients from China to elucidate the difference between CPVT patients in Asia and Western countries. Methods: PubMed and Embase were systematically searched for case reports or series reporting on CPVT patients from China until 19 February 2022 using the keyword: “Catecholaminergic Polymorphic Ventricular Tachycardia” or “CPVT”, with the location limited to: “China” or “Hong Kong” or “Macau” in Embase, with no language or publication-type restriction. Articles that did not state a definite diagnosis of CPVT and articles with duplicate cases found in larger cohorts were excluded. All the included publications in this review were critically appraised based on the Joanna Briggs Institute Critical Appraisal Checklist. Clinical characteristics, genetic findings, and the primary outcome of spontaneous ventricular tachycardia/ventricular fibrillation (VT/VF) were analyzed. Results: A total of 58 unique cases from 15 studies (median presentation age: 8 (5.0–11.8) years old) were included. All patients, except one, presented at or before 19 years of age. There were 56 patients (96.6%) who were initially symptomatic. Premature ventricular complexes (PVCs) were present in 44 out of 51 patients (86.3%) and VT in 52 out of 58 patients (89.7%). Genetic tests were performed on 54 patients (93.1%) with a yield of 87%. RyR2, CASQ2, TERCL, and SCN10A mutations were found in 35 (71.4%), 12 (24.5%), 1 (0.02%) patient, and 1 patient (0.02%), respectively. There were 54 patients who were treated with beta-blockers, 8 received flecainide, 5 received amiodarone, 2 received verapamil and 2 received propafenone. Sympathectomy (n = 10), implantable cardioverter-defibrillator implantation (n = 8) and ablation (n = 1) were performed. On follow-up, 13 patients developed VT/VF. Conclusion: This was the first systematic review of CPVT patients from China. Most patients had symptoms on initial presentation, with syncope as the presenting complaint. RyR2 mutation accounts for more than half of the CPVT cases, followed by CASQ2, TERCL and SCN10A mutations.
    Dostawca treści:
    Repozytorium Uniwersytetu Jagiellońskiego
    Artykuł
      Wyświetlanie 1-4 z 4

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