Clinical Cardiogenetics

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?

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 disease of the heart muscle may occur secondarily to common diseases, such as ischemic, hypertensive and valvular, among others. However, there is a group of conditions with intrinsic myocardial involvement from gene or multifactorial etiology, and high morbidity and mortality that represent a diagnostic and therapeutic challenge for the physician. The book is focused on these cardiomyopathies, its features, its pathophysiology and its relation to sudden death. Mention is made also on general aspects, like ecocardiographic findings and myocardial contractile reserve, specific as pathophysiology and molecular mechanisms and cardiomyopathies in special populations. Special attention was deserved to cardiomyopathies in pediatrics, diabetic patients and women, as well as to the cases of chronic heart failure and dilated cardiomyopathy.

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

This book provides a comprehensive summary of the latest developments in the field of the genomics of cardiac disease. Written and edited by leading clinicians and scientists involved in the analysis and therapy of genetic cardiac disorders, it discusses the genetic causes of a variety of cardiac diseases, such as the complex genetics and etiology of congenital heart diseases. It also explores sex differences in prevalent diseases, genetics-based therapeutic strategies and the use of various animal models and alternatives. The book is intended for research scientists and clinical scientists in the cardiovascular field, human geneticists and cardiologists.

Edited and written by internationally recognized authorities, Current Concepts in Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia (ARVC/D) presents important insights to all aspects of this unique disease and will serve as a valuable guide to help readers provide the best possible care for their patients. Discussion of ARVC/D by the experts includes: · Basic and clinical science. · Pathophysiology, molecular mechanisms, and genetic background. · The mechanisms of disease progression leading to a diversity of disease phenotypes. · Challenges in the clinical setting with respect to diagnosis, risk stratification, and therapy. “The editors…have enlisted as authors those who first recognized and named the disease, and most of those responsible for the recent advances in this fascinating area. The result is an excellent, comprehensive but very readable text dealing with this increasingly important spectrum of diseases. It is a unique book that should be found on the shelves of everyone who seeks to manage patients with cardiac arrhythmia because amongst those who seek advice there are sure to be patients with this challenging disease.” - From the foreword by A. John Camm, MD

This book offers a comprehensive review of clinical cardiac electrophysiology in a question and answer format. Chapters contain over 200 questions divided into 9 chapters, each organized by cardiac electrophysiology topic. Each question is followed by the correct answer with a detailed explanation along with references for further reading. Important concepts are highlighted and supported by over 200 illustrations and high resolution images. The book addresses a broad range of topics that are important when studying for the initial certification or recertification of the clinical cardiac electrophysiology board examination. It is also highly relevant for daily clinical practice in cardiology and cardiac electrophysiology. Topics covered in the book include: Review of basic and clinical cardiac electrophysiology principles associated with cardiac arrhythmias The evaluation and management of patients with cardiac rhythm disorders Review of pharmacologic and nonpharmacologic therapies for the treatment of arrhythmias Clinical indications, fundamental principles and electrical characteristics of implantable cardiac electronic devices such as pacemakers and defibrillators Clinical, electrocardiographic, and electrophysiologic characteristics of specific cardiac arrhythmia syndromes Cardiac Electrophysiology Board Review is a must-have resource for cardiology and cardiac electrophysiology trainees as well as attending physicians preparing for the certification or recertification examination. It may also be a useful guide for cardiologists, cardiac electrophysiologists and all clinicians who wish to further their understanding of heart rhythm disorders.

Recognized scientists and clinicians from around the world discuss the most recent molecular approaches to understanding the cardiovascular system in both health and disease. The authors focus on all components of the system, including blood vessels, heart, kidneys, and the brain, and cover disease states ranging from vascular and cardiac dysfunction to stroke and hypertension. The methods described for identifying the genes that cause susceptibility to cardiovascular diseases emphasize the possibility of discovering new drug targets. Authoritative and ground-breaking, Cardiovascular Genomics offers an unprecedented examination of both the cutting-edge scientific approaches now possible and the results obtained from them in the new science of cardiovascular genomics.