Clinical management and signs are the focus of this practical cardiogenetic reference for those who are involved in the care for cardiac patients with a genetic disease. With detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic. The genetic causes of various cardiovascular diseases are explained in a concise clinical way that reinforces the current management doctrine in a practical manner. The authors will cover the principles of molecular genetics in general but also specific to cardiac diseases. They will discuss the etiology, pathogenesis, pathophysiology, clinical presentation, clinical diagnosis, molecular diagnosis and treatment of each cardiogenetic disease separately. Therapy advice, ICD indications, indications for and manner of further family investigation will all be covered, while each chapter will also contain take-home messages to reinforce the key points. The chapters reviewing the different diseases will each contain a table describing the genes involved in each. Each chapter will also contain specific illustrations, cumulatively giving a complete, practical review of each cardiogenetic disease separately. Special emphasis will be given to advice on how to diagnose and manage cardiogenetic diseases in clinical practice, which genes should be investigated and why, and the pros and cons of genetic testing. Guidelines for investigation in families with sudden cardiac death at young age will also be included. This book will be written for the general cardiologist and the clinical geneticist who is involved in cardiac patients and will provide answers to question such as: Which genes are involved and which mutations? What is the effect of the mutation at cellular level? Which genes should be tested and why? What is the value of a molecular diagnosis? Does it influence therapy? When should the first degree relatives be tested and in which way?
The electrocardiogram (ECG) remains the most accessible and inexpensive diagnostic tool to evaluate the patient presenting with symptoms suggestive of acute myocardial ischemia. It plays a crucial role in decision making about the aggressiveness of therapy especially in relation to reperfusion therapy, because such therapy has resulted in a considerable reduction in mortality from acute myocardial infarction. Several factors play a role in the amount of myocardial tissue that can be salvaged by reperfusion therapy, such as the time interval between onset of coronary occlusion and reperfusion, site and size of the jeopardized area, type of reperfusion attempt (thrombolytic agent or an intracoronary catheter intervention), presence or absence of risk factors for thrombolytic agents, etc. Most important in decision making on reperfusion therapy and the type of intervention is to look for markers indicating a higher mortality rate from myocardial infarction. The ECG is a reliable, inexpensive, non-invasive instrument to obtain that information. Recently it has become clear that both in anterior and inferior myocardial infarction, the ECG frequently allows not only to identify the infarct related coronary artery, but also the site of occlusion in that artery and therefore the size of the jeopardized area. Obviously, the more proximal the occlusion, the larger the area at risk and the more aggressive the reperfusion attempt.
The electrocardiogram (ECG) remains the most accessible and inexpensive diagnostic tool to evaluate the patient presenting with symptoms suggestive of acute myocardial ischemia. It plays a crucial role in decision making about the aggressiveness of therapy especially in relation to reperfusion therapy, because such therapy has resulted in a considerable reduction in mortality from acute myocardial infarction. Several factors play a role in the amount of myocardial tissue that can be salvaged by reperfusion therapy, such as the time interval between onset of coronary occlusion and reperfusion, site and size of the jeopardized area, type of reperfusion attempt (thrombolytic agent or an intracoronary catheter intervention), presence or absence of risk factors for thrombolytic agents, etc. Most important in decision making on reperfusion therapy and the type of intervention is to look for markers indicating a higher mortality rate from myocardial infarction. The ECG is a reliable, inexpensive, non-invasive instrument to obtain that information. Recently it has become clear that both in anterior and inferior myocardial infarction, the ECG frequently allows not only to identify the infarct related coronary artery, but also the site of occlusion in that artery and therefore the size of the jeopardized area. Obviously, the more proximal the occlusion, the larger the area at risk and the more aggressive the reperfusion attempt.
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