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?
Table des matières
Section I: BASIC CONCEPTS – Introduction, Introduction to molecular genetics, Molecular genetics in cardiology, Clinical Genetics of cardiac diseases.- Section II: CARDIOMYOPATHY – Hypertrophic cardiomyopathy.- Dilated cardiomyopathy, Arrhythmogenic Right Ventricular Cardiomyopathy, Other cardiomyopathies.- Section III: PRIMARY ELECTRICAL HEART DISEASES – Congenital long QT-syndrome, Brugada syndrome, Short QT-syndrome, Catecholamine induced polymorphic ventricular tachycardia, Familial atrial fibrillation, Hereditary conduction diseases, Connective tissue disorders and smooth muscle disorders, Genetics of congenital heart diseases, Genetics of hypertension and clinical aspects, Genetics of the lipoprotein metabolism and clinical aspects, Genetics of homocysteine metabolism and clinical aspects, Genetic markers of hemostatic factors, The pharmacogenetics of atherosclerosis, Genetics of (premature) coronary artery disease, Cardiac involvement in hereditary neuromuscular diseases, Sudden cardiac death < 40 years, The outpatient clinic for cardiogenetics, The future of cardiogenetics
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