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?

Hubert F. Baars has been a general and genetic cardiologist in the Elisabeth-Tweesteden Hospital Tilburg, The Netherlands, for over 20 years. He has a particular interest in hereditary heart diseases and founded the Brabant outpatient clinic for cardiogenetics. At present he is the director of the DNA clinic in the Netherlands, a chain of outpatient clinics for cardiogenetics. In addition he is a consultant cardiologist at the OLVG Hospital in Amsterdam.

Pieter A. F. M. Doevendans completed his training as a cardiologist in Maastricht. In 2004 he was appointed Professor of Translational Cardiology in the UMC Utrecht, the Netherlands. His research focus is on cardiac failure, cardiac stem cells and cardiogenetics.

Arjan C Houweling is a clinical geneticist at the VU Medical Center in Amsterdam. He has been working in the field of cardiogenetics since 2007. His research in the field of cardiogenetics has been mainly focused on genetic aspects of Pulmonary Arterial Hypertension and on the genetic aspects of aortic disease.

J. Peter van Tintelen is clinical geneticist and head of the department of Genetics at the UMC Utrecht, the Netherlands. His research focuses on identifying novel genes and mutations, early detection and understanding clinical variability in inherited cardiac diseases. In 2019 he was appointed Professor of Cardiogenetics.