Genetics of atrial fibrillation: implications for future research directions and personalized medicine.
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ABSTRACT:
SUBMITTER: Lubitz SA
PROVIDER: S-EPMC3062900 | biostudies-literature | 2010 Jun
REPOSITORIES: biostudies-literature
Publications
Genetics of atrial fibrillation: implications for future research directions and personalized medicine.
Lubitz Steven A SA Ozcan Cevher C Magnani Jared W JW Kääb Stefan S Benjamin Emelia J EJ Ellinor Patrick T PT
Circulation. Arrhythmia and electrophysiology 20100601 3
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Project description:Atrial fibrillation (AF) is the most common arrhythmia and is associated with increased morbidity. As the population ages and the prevalence of AF continues to rise, the socioeconomic consequences of AF will become increasingly burdensome. Although there are well-defined clinical risk factors for AF, a significant heritable component is also recognized. To identify the molecular basis for the heritability of AF, investigators have used a combination of classical Mendelian genetics, candidate gene screening, and genome-wide association studies. However, these avenues have, as yet, failed to define the majority of the heritability of AF. The goal of this review is to describe the results from both candidate gene and genome-wide studies, as well as to outline potential future avenues for creating a more complete understanding of AF genetics. Ultimately, a more comprehensive view of the genetic underpinnings for AF will lead to the identification of novel molecular pathways and improved risk prediction of this complex arrhythmia.
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Project description:BackgroundCOVID-19 infections are known to cause numerous systemic complications including cardiovascular disorders. In this regard, clinicians recently noticed that patients recovering from COVID-19 infections presented with diverse set of cardiovascular disorders in addition to those admitted to ICU (intensive care unit). COVID-19 heart has multifaceted presentation ranging from dysrhythmias, myocarditis, stroke, coronary artery disease, thromboembolism to heart failure. Atrial fibrillation is the most common cardiac arrhythmia among COVID-19 patients. In the background section, we briefly discussed epidemiology and spectrum of cardiac arrhythmias in COVID-19 patients.Main bodyIn this state-of-the-art review we present here, we present the information regarding COVID-19-induced A-fib in sections, namely mechanism of action, clinical presentation, diagnosis and treatment. Unfortunately, its occurrence significantly increases the mortality and morbidity with a potential risk of complications such as cardiac arrest and sudden death. We included separate sections on complications including thromboembolism and ventricular arrhythmias. Since its mechanism is currently a gray area, we included a separate section on basic science research studies that are warranted in the future to comprehend its underlying pathogenic mechanisms.ConclusionsTaken together, this review builds upon the current literature of COVID-19-induced A-fib, including pathophysiology, clinical presentation, treatment and complications. Furthermore, it provides recommendations for future research moving forward that can open avenues for developing novel remedies that can prevent as well as hasten clinical recovery of atrial fibrillation in COVID-19 patients.
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Project description:Stroke prevention is central to the management of patients with atrial fibrillation (AF). Vitamin K antagonists (VKAs) are the established and long-standing option for stroke prevention therapy in patients with AF. However, non-VKA oral anticoagulants (NOACs) have recently been developed and demonstrated non-inferior efficacy vs VKA treatment, with fewer limitations in clinical practice and with reduced risks of major bleeding. In order to discuss the usage, efficacy and safety of NOACs, a satellite symposium was held at the Cardiostim/ EHRA Europace Congress in Nice in June 2014. At present, three NOACs, a direct thrombin inhibitor (dabigatran) and two direct factor Xa inhibitors (rivaroxaban and apixaban) have been approved in Europe for stroke prevention in patients with AF. In addition, the once-daily factor Xa inhibitor edoxaban has recently been evaluated in this setting in the phase III Effective Anticoagulation with Factor Xa Next Generation in Atrial Fibrillation - Thrombolysis In Myocardial Infarction Study 48 (ENGAGE AF-TIMI 48) that compared edoxaban 30 mg once daily (low-dose regimen) with dose-adjusted warfarin (international normalised ratio 2.0-3.0). ENGAGE AF-TIMI 48 was the largest trial with a NOAC to date, and demonstrated that both dosing regimens of once-daily edoxaban were non-inferior to well-managed warfarin treatment for the prevention of stroke or systemic embolism and also provided significant reductions in the risk of haemorrhagic stroke, cardiovascular mortality, major bleeding and intracranial bleeding. In summary, the recent availability of NOACs has enabled physicians to avoid the limitations of VKA therapy in clinical practice and tailor anticoagulant treatment to the individual patient. However, worldwide usage of oral anticoagulant therapy remains suboptimal compared with guideline recommendations, and further dissemination of its benefits may prove helpful.
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Project description:Scientific and technologic advances are revolutionizing our approach to genetic cancer risk assessment, cancer screening and prevention, and targeted therapy, fulfilling the promise of personalized medicine. In this monograph, we review the evolution of scientific discovery in cancer genetics and genomics, and describe current approaches, benefits, and barriers to the translation of this information to the practice of preventive medicine. Summaries of known hereditary cancer syndromes and highly penetrant genes are provided and contrasted with recently discovered genomic variants associated with modest increases in cancer risk. We describe the scope of knowledge, tools, and expertise required for the translation of complex genetic and genomic test information into clinical practice. The challenges of genomic counseling include the need for genetics and genomics professional education and multidisciplinary team training, the need for evidence-based information regarding the clinical utility of testing for genomic variants, the potential dangers posed by premature marketing of first-generation genomic profiles, and the need for new clinical models to improve access to and responsible communication of complex disease risk information. We conclude that given the experiences and lessons learned in the genetics era, the multidisciplinary model of genetic cancer risk assessment and management will serve as a solid foundation to support the integration of personalized genomic information into the practice of cancer medicine.
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Project description:Atrial fibrillation (AF) is a common arrhythmia of substantial public health importance. Recent evidence demonstrates a heritable component underlying AF, and genetic discoveries have identified common variants associated with the arrhythmia. Ultimately one hopes that the consideration of genetic variation in clinical practice may enhance care and improve health outcomes. In this review we explore areas of potential clinical utility in AF management including those relating to pharmacogenetics and risk prediction.
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Project description:BackgroundHuman genetics research lacks diversity; over 80% of genome-wide association studies have been conducted on individuals of European ancestry. In addition to limiting insights regarding disease mechanisms, disproportionate representation can create disparities preventing equitable implementation of personalized medicine.ObjectiveThis systematic review provides an overview of research involving Parkinson's disease (PD) genetics in underrepresented populations (URP) and sets a baseline to measure the future impact of current efforts in those populations.MethodsWe searched PubMed and EMBASE until October 2021 using search strings for "PD," "genetics," the main "URP," and and the countries in Latin America, Caribbean, Africa, Asia, and Oceania (excluding Australia and New Zealand). Inclusion criteria were original studies, written in English, reporting genetic results on PD from non-European populations. Two levels of independent reviewers identified and extracted information.ResultsWe observed imbalances in PD genetic studies among URPs. Asian participants from Greater China were described in the majority of the articles published (57%), but other populations were less well studied; for example, Blacks were represented in just 4.0% of the publications. Also, although idiopathic PD was more studied than monogenic forms of the disease, most studies analyzed a limited number of genetic variants. We identified just nine studies using a genome-wide approach published up to 2021, including URPs.ConclusionThis review provides insight into the significant lack of population diversity in PD research highlighting the immediate need for better representation. The Global Parkinson's Genetics Program (GP2) and similar initiatives aim to impact research in URPs, and the early metrics presented here can be used to measure progress in the field of PD genetics in the future. © 2022 International Parkinson and Movement Disorder Society.
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Project description:There has been an exponential growth of artificial intelligence (AI) and machine learning (ML) publications aimed at advancing our understanding of atrial fibrillation (AF), which has been mainly driven by the confluence of two factors: the advances in deep neural networks (DeepNNs) and the availability of large, open access databases. It is observed that most of the attention has centred on applying ML for dvsetecting AF, particularly using electrocardiograms (ECGs) as the main data modality. Nearly a third of them used DeepNNs to minimize or eliminate the need for transforming the ECGs to extract features prior to ML modelling; however, we did not observe a significant advantage in following this approach. We also found a fraction of studies using other data modalities, and others centred in aims, such as risk prediction, AF management, and others. From the clinical perspective, AI/ML can help expand the utility of AF detection and risk prediction, especially for patients with additional comorbidities. The use of AI/ML for detection and risk prediction into applications and smart mobile health (mHealth) technology would enable 'real time' dynamic assessments. AI/ML could also adapt to treatment changes over time, as well as incident risk factors. Incorporation of a dynamic AI/ML model into mHealth technology would facilitate 'real time' assessment of stroke risk, facilitating mitigation of modifiable risk factors (e.g. blood pressure control). Overall, this would lead to an improvement in clinical care for patients with AF.
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Project description:Atrial fibrillation is the most common cardiac arrhythmia mainly caused by valvular, ischemic, hypertensive, and myopathic heart disease. Atrial fibrillation can occur in families suggesting a genetic background especially in younger subjects. Additionally recent studies have identified common genetic variants to be associated with atrial fibrillation in the general population. This cardiac arrhythmia has important public health implications because of its main complications: congestive heart failure and ischemic stroke. Since atrial fibrillation can result in ischemic stroke, one might assume that genetic determinants of this cardiac arrhythmia are also implicated in cerebrovascular disease. Ischemic stroke is a multifactorial, complex disease where multiple environmental and genetic factors interact. Whether genetic variants associated with a risk factor for ischemic stroke also increase the risk of a particular vascular endpoint still needs to be confirmed in many cases. Here we review the current knowledge on the genetic background of atrial fibrillation and the consequences for cerebrovascular disease.
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