scholarly journals Brugada Syndrome: Progress in Genetics, Risk Stratification and Management

2019 ◽  
Vol 8 (1) ◽  
pp. 19-27 ◽  
Author(s):  
Jorge Romero ◽  
Dan L Li ◽  
Ricardo Avendano ◽  
Juan Carlos Diaz ◽  
Roderick Tung ◽  
...  

Brugada syndrome (BrS) is one of the most common causes of sudden cardiac death in normal structural heart individuals. First characterised in 1992, the global prevalence of BrS is unclear, with estimates placing it at around 0.05% and presenting most frequently in southeast Asian countries. This review aims to summarise the development in the understanding of BrS and, importantly, progress in its management, underpinned by knowledge regarding its genetics and molecular mechanisms. It also provides update on risk stratification and promising new therapies for BrS, including epicardial ablation. Future studies are required to increase understanding of the pathogenesis of this disease and to guide clinical practice.

2019 ◽  
Vol 14 (1) ◽  
pp. 45-49 ◽  
Author(s):  
Daniel García Iglesias ◽  
José Rubín ◽  
Diego Pérez ◽  
César Morís ◽  
David Calvo

Brugada syndrome (BrS) is an inherited disease with an increased risk of sudden cardiac death (SCD). However, testing identifies genetic disorders in only 20–30% of patients analysed, indicating a gap in knowledge of its genetic aetiology. Diagnosis relies on ECG, and risk stratification in BrS patients is challenging, primarily because of the complexity of the issue. As a result, clinicians fail to provide the appropriate strategy for SCD prevention for many patients. Several variables and interventions are being studied to improve diagnostics and maximise patient protection. In addition, the scientific community must increase efforts to provide patient care according to knowledge and research for improving stratification of risk. In this article, the authors summarise contemporary evidence on clinical variables and provide an overview of future directions in risk stratification and SCD prevention.


Circulation ◽  
2008 ◽  
Vol 118 (suppl_18) ◽  
Author(s):  
Michael Papadakis ◽  
Carey Edwards ◽  
John C Rawlins ◽  
Sanjay Sharma

Risk stratification for sudden death in Brugada syndrome and hence indications for implantation of an internal cardioverter defibrillator are based on the presence of a spontaneous type 1 electrocardiogram (ECG) pattern, in association with unheralded syncope or documented polymorphic ventricular tachycardia. Increasingly, awareness of sudden death in the young and implementation of pre-participation screening programs in sport will identify young, asymptomatic patients with the Brugada phenotype. We evaluated the predictive accuracy of symptoms, particularly unheralded syncope in victims of sudden death from Brugada syndrome. Over the past 3 years we identified 22 victims of sudden cardiac death secondary to Brugada syndrome. The diagnosis was based on sudden death with normal findings at post mortem and the identification of the type 1 Brugada ECG pattern in first-degree relatives (spontaneous or following ajmaline provocation test). All relatives underwent 12-lead ECG, echocardiography, exercise testing, 24-hour Holter monitor and biochemical tests. Cardiac magnetic resonance imaging and coronary angiography were performed when appropriate. Of the victims dying from Brugada syndrome, 15 (68%) were male. The mean age of sudden death was 30 years (range 8 –56 years) and 95% died suddenly at rest or during sleep. We interviewed first-degree relatives and partners regarding prodromal symptoms or a history of epilepsy. Only 3 out of 22 victims (14%) had significant symptoms. Specifically, 2 individuals experienced unheralded syncope and 1 suffered nocturnal seizures. Only 14% had a family history of premature sudden cardiac death. Indeed we obtained 12-lead ECGs in 3 victims taken less than 6 months prior to sudden death, which failed to reveal the typical Brugada ECG phenotype. Our results indicate that the vast majority of individuals who die from Brugada syndrome in the UK are asymptomatic and raise concerns that the absence of symptoms does not necessarily mean low risk. Better understanding of the disorder and risk stratification protocols is necessary to permit genuine reassurance in asymptomatic individuals exhibiting the Brugada phenotype.


2021 ◽  
Vol 33 (5) ◽  
pp. 1149-1156
Author(s):  
Swan Sim Yeap ◽  
Aree Tanavalee ◽  
Emmanuel C. Perez ◽  
Maw Pin Tan ◽  
Bernadette Heizel M. Reyes ◽  
...  

Abstract Background Since 2014, the European Society for Clinical and Economic Aspects of Osteoporosis, Osteoarthritis and Musculoskeletal Diseases (ESCEO) algorithm for the management of knee osteoarthritis (OA) is available worldwide. Aim Based on this document, a Southeast Asia Working Group (SEAWG) wished to see how the new ESCEO algorithm developed in 2019 was perceived by Southeast Asian experts and how it was integrated into their clinical practice. Methods A SEAWG was set up between members of the international ESCEO task force and a group of Southeast Asian experts. Results Non-pharmacological management should always be combined with pharmacological management. In step 1, symptomatic slow-acting drugs for osteoarthritis are the main background therapy, for which high-quality evidence is available only for the formulations of patented crystalline glucosamine sulfate and chondroitin sulfate. In step 2, oral NSAIDs are a useful option, considering the cardiovascular/renal/gastrointestinal profiles of the individual patient. Intra-articular hyaluronic acid and corticosteroids are a possible alternative to oral NSAIDs, but limited evidence is available. If steps 1 and 2 do not give adequate relief of symptoms, tramadol can be used, but its safety is debated. In general, the indications of the ESCEO algorithm are important in Southeast Asian countries, but the reimbursement criteria of local health systems are an important aspect for adherence to the ESCEO algorithm. Conclusion This guidance provides evidence-based and easy-to-follow advice on how to establish a treatment algorithm in knee OA, for practical implementation in clinical practice in Southeast Asian countries.


2014 ◽  
Vol 5 (4) ◽  
pp. 3-12
Author(s):  
A V Ardashev ◽  
G P Arutyunov ◽  
E G Zhelyakov ◽  
Yu N Belenkov

Cardiovascular mortality in Russia is one of the highest in the world and is 1462 deaths per 100,000 per year. The main mechanisms dramatic outcomes of cardiovascular disease are death due to heart failure and sudden cardiac death (SCD). According to the calculated data 200,000-250,000 patients died suddenly in Russia per year.The problem of the SCD is one of the urgent problems of healthcare because prevalence of it is growing up and there is obvious possibility of effective preventive measures.In the present article presents definitions associated with SCD, mechanisms, primary and secondary risk factors for SCD.


2018 ◽  
Vol 7 (2) ◽  
pp. 79 ◽  
Author(s):  
Shohreh Honarbakhsh ◽  
Rui Providencia ◽  
Pier D Lambiase ◽  
◽  
◽  
...  

Brugada syndrome (BrS) is one of the most common inherited channelopathies associated with an increased risk of sudden cardiac death. Appropriate use of an ICD in high-risk patients is life-saving. However, there remains a lack of consensus on risk stratification, and even on the diagnosis of BrS itself. Some argue that people with a type 1 Brugada ECG pattern but no symptoms should not be diagnosed with BrS, and guidelines recommend observation without therapy in these patients. Others argue that the presence of a spontaneous (rather than drug-induced) type 1 ECG pattern alone is enough to label them as high-risk for arrhythmic events, particularly if syncope is also present. Syncope and a spontaneous type 1 ECG pattern are the only factors that have consistently been shown to predict ventricular arrhythmic events and sudden cardiac death. Other markers have yielded conflicting data. However, in combination they may have roles in risk scoring models. Epicardial catheter ablation in the right ventricular outflow tract has shown promise in studies as an alternative management option to an ICD, but longer follow-up is required to ensure that the ablation effect is permanent.


2020 ◽  
Vol 48 (2) ◽  
pp. 429-439 ◽  
Author(s):  
Jorge Gago ◽  
Danilo M. Daloso ◽  
Marc Carriquí ◽  
Miquel Nadal ◽  
Melanie Morales ◽  
...  

Besides stomata, the photosynthetic CO2 pathway also involves the transport of CO2 from the sub-stomatal air spaces inside to the carboxylation sites in the chloroplast stroma, where Rubisco is located. This pathway is far to be a simple and direct way, formed by series of consecutive barriers that the CO2 should cross to be finally assimilated in photosynthesis, known as the mesophyll conductance (gm). Therefore, the gm reflects the pathway through different air, water and biophysical barriers within the leaf tissues and cell structures. Currently, it is known that gm can impose the same level of limitation (or even higher depending of the conditions) to photosynthesis than the wider known stomata or biochemistry. In this mini-review, we are focused on each of the gm determinants to summarize the current knowledge on the mechanisms driving gm from anatomical to metabolic and biochemical perspectives. Special attention deserve the latest studies demonstrating the importance of the molecular mechanisms driving anatomical traits as cell wall and the chloroplast surface exposed to the mesophyll airspaces (Sc/S) that significantly constrain gm. However, even considering these recent discoveries, still is poorly understood the mechanisms about signaling pathways linking the environment a/biotic stressors with gm responses. Thus, considering the main role of gm as a major driver of the CO2 availability at the carboxylation sites, future studies into these aspects will help us to understand photosynthesis responses in a global change framework.


2020 ◽  
Vol 17 (2) ◽  
pp. 63
Author(s):  
ROHASLINDA BINTI RAMELE ◽  
YAMAZAKI JUICHI ◽  
MD NAJIB IBRAHIM ◽  
LILIS SHEREENA SAFIEE

This study aims to clarify regulations used among each type of registered and unregistered Malaysian homestays and to reveal issues arose regarding the implemented regulations. Selected homestays that are established by the government organizations and individuals were investigated to carry out the comparison on each homestay. Host families and persons in charge of the Ministry of Tourism, Arts and Culture (MOTAC), the Ministry of Agriculture (MOA), and the Ministry of Rural and Regional Development (MRRD) were also interviewed. Findings showed that there is only one guideline used for all types of homestays in Malaysia, which is the Malaysia Homestay Registration Guideline, established by MOTAC. MOTAC has also been selected as a leader of homestays in the Southeast Asian countries by the ASEAN Secretariat; therefore, the ASEAN Homestay Standard is also being referred. However, the implementation of this guideline and standard among other homestays unregistered with MOTAC (homestays established by MOA, MRRD, and individuals) is not compulsory, although encouraged, where they may receive equal benefits in term of facilities and promotion. Some issues arose due to the tax regulated by the local authorities, failure on homestays to be registered with MOTAC, and abandoned homestays. This study recommended that the Malaysia Homestay Registration Guideline to be standardized and regulated to all types of homestays, including individuals and unregistered homestays in Malaysia. This is important in order to reduce issues arose involving the homestay industry, providing safety and comfort to the tourists and, to help to develop rural income among host families and the rural community themselves.Keywords: Rural tourism, homestay, regulation, management, operation


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