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?

Clinics for cardiogenetic disorders have been established in many academic teaching hospitals in Europe. In these clinics, cardiologists, clinical and molecular geneticists, genetic nurses, and social workers closely cooperate to provide optimal care for individuals with cardiac disease of probable genetic origin and their family members. However, the prevalence of genetic cardiomyopathies and primary electrical heart diseases is sufficiently high, that it is neither desirable nor possible that the care for this group of patients and their relatives remains solely restricted to a small number of academic centers. Therefore basic knowledge on the genetic aspects of these types of disorders and on what to do with as yet asymptomatic at-risk family members should be considered to be a prerequisite for all practising cardiologists. Many cardiologists have not been specifically trained in genetics, let alone in explaining genetics to their patients. Clinical Cardiogenetics compiles the massive amount of information available in a single easy to read textbook. It does not require prior expert genetic knowledge and provides a practical clinical primer for cardiologists and other physicians involved in the management of these patients. With the continuing increase in genetic knowledge, and the expanding possibilities to prevent fatal arrhythmias in those individuals at high risk, a steady increase in questions regarding genetics from patients and their relatives in the years to come should be expected. This comprehensive textbook is a valuable tool in dealing with such questions.