Sudden Cardiac Death and Channelopathies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Sudden Cardiac Death and Channelopathies write by Giannis G. Baltogiannis. This book was released on 2021-01-11. Sudden Cardiac Death and Channelopathies available in PDF, EPUB and Kindle.
Channelopathies in Heart Disease
Channelopathies in Heart Disease - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Channelopathies in Heart Disease write by Dierk Thomas. This book was released on 2018-09-10. Channelopathies in Heart Disease available in PDF, EPUB and Kindle. This book provides an expert overview on ion channel-related arrhythmia mechanisms, and describes important advances in our understanding of how ion channel dysfunction causes cardiac disease. Both, scientific findings and clinical implications are presented and discussed by scientists who have considerably contributed to the field. The book is organized in three parts: part I treats the molecular and electrophysiological mechanisms of function and dysfunction of ion channels, part II focuses on genetics and clinical findings, whereas part III describes novel research techniques, the use of stem cells and animal models and provides an outlook on future investigations and applications. The book is written for scientists in Cardiovascular Biology and Neuroscience and will be of general interest to Medical Doctors in Cardiology, Cardiac Electrophysiology and related disciplines.
J Wave Syndromes
J Wave Syndromes - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook J Wave Syndromes write by Charles Antzelevitch. This book was released on 2016-06-27. J Wave Syndromes available in PDF, EPUB and Kindle. This book delineates the state of the art of the diagnosis and treatment of J wave syndromes, as well as where future research needs to be directed. It covers basic science, translational and clinical aspects of these syndromes. The authors are leading experts in their respective fields, who have contributed prominently to the literature concerning these topics. J wave syndromes are one of the hottest topics in cardiology today. Cardiac arrhythmias associated with Brugada syndrome (BrS) or an early repolarization (ER) pattern in the inferior or infero-lateral ECG leads are thought to be mechanistically linked to accentuation of transient outward current (Ito)-mediated J waves. Although BrS and ER syndrome (ERS) differ with respect to magnitude and lead location of abnormal J waves, they are thought to represent a continuous spectrum of phenotypic expression termed J wave syndromes. ERS is divided into three subtypes with the most severe, Type 3, displaying an ER pattern globally in the inferior, lateral and right precordial leads. BrS has been linked to mutations in 19 different genes, whereas ERS has been associated with mutations in 7 different genes. There is a great deal of confusion as to how to properly diagnose and treat the J wave syndromes as well as confusion about the underlying mechanisms. The demonstration of successful epicardial ablation of BrS has provided new therapeutic options for the management of this syndrome for which treatment alternatives are currently very limited, particularly in the case of electrical storms caused by otherwise uncontrollable recurrent VT/VF. An early repolarization pattern is observed in 2-5% of the US population. While it is clear that the vast majority of individuals exhibiting an ER pattern are not at risk for sudden cardiac death, the challenge moving forward is to identify those individuals who truly are at risk and to design safe and effective treatments.
Ion Channel Diseases
Ion Channel Diseases - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Ion Channel Diseases write by . This book was released on 2011-09-06. Ion Channel Diseases available in PDF, EPUB and Kindle. Ion channel dysfunction in humans leads to impairment of the excitable processes necessary for the normal function of several tissues, such as muscle and brain. It follows that an increasing number of human diseases have been associated with malfunctioning ion channels, many of which have a genetic component. This volume of Advances in Genetics presents a broad and comprehensive overview of the inherited channelopathies in humans, including clinical, genetic and molecular aspects of these conditions. Keeping true to the scope of the serial, novel genomic and modeling research approaches and a review of potential therapeutic approaches for each of these conditions are also incorporated.
Unveiling Mechanisms Involved in Non-traditional Cases of Inherited Cardiac Channelopathies
Unveiling Mechanisms Involved in Non-traditional Cases of Inherited Cardiac Channelopathies - read free eBook in online reader or directly download on the web page. Select files or add your book in reader. Download and read online ebook Unveiling Mechanisms Involved in Non-traditional Cases of Inherited Cardiac Channelopathies write by Malcolm Hoshi. This book was released on 2015. Unveiling Mechanisms Involved in Non-traditional Cases of Inherited Cardiac Channelopathies available in PDF, EPUB and Kindle. Cardiac arrhythmias are diseases of electrical rhythm that can lead to sudden cardiac death. Inherited arrhythmias can strike any age group, and are a leading cause of sudden death among young people. Many of these are caused by mutations in ion channels, proteins which govern the flow of electricity through the heart. As these are genetic mutations, we are able to use genetic testing to determine who may be at risk, and to prophylactically treat them accordingly. However, a common feature of cardiac arrhythmias is genotype-phenotype discordance. This means that, for various reasons, carrying a disease-causing mutation does not ensure a disease phenotype. When one considers genotype-phenotype discordance in the light of the fact that treatments such as the implantation of a cardiodefibrillator carry significant cost and risk, it is clear that a difficult proposition faces medical professionals in balancing over- and under-treatment. Thus, the overall aim of my dissertation is to improve the diagnostic ability of clinicians when presented with an individual who has a mutation in a cardiac ion channel. My first project approaches this by examining the fidelity of clinical genetic testing in calling pathogenic mutations in the context of Long QT Syndrome. I present an interesting case of a family which carries three potential mutations and show via electrophysiology and computer modeling that it is likely a combination of all three that causes disease. For my second project, I look more closely at potential mechanisms of genotype-phenotype discordance in the context of another arrhythmia, Brugada Syndrome. Specifically, I characterize a novel mechanism using electrophysiology and biochemistry whereby apparently benign mutations in NaV1.5 can lead to a loss-of-function. These mutations do not show any defects when expressed alone, but by interaction with a wild-type protein lead to a loss-of-function. In summary, my work overall shows that biophysical characterization of mutations remains the best tool for predicting risk in genetic arrhythmias, and I also present a novel mechanism to help explain the high degree of variability seen in inherited arrhythmias.
