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E-raamat: Inherited Cardiac Disease

Edited by (Professor of Cardiovascular Medicine, University College London; Head of the UCL Centre for Heart Muscle Disease, and lead of the Inherited Cardiovascular Disease Unit, St Bartholomew's Hospital, London, UK), Edited by , Edited by (Professor of Cardiology, U)
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Every year, thousands of people die or suffer chronic disability as the result of inherited diseases of the cardiovascular system. In many cases, diagnosis of inherited disease is delayed or missed owing to a lack of awareness, and an even greater number of relatives are exposed to unnecessary risk. This new edition of Inherited Cardiac Disease provides a comprehensive summary of the aetiology, presentation, and management of genetic disorders of the cardiovascular system. Fully updated to reflect the advances in molecular genetic technologies and the publication of national guidelines for the management of families with inherited cardiac diseases, it retains the first edition's broad scope and applicability to all members of the multidisciplinary team, from specialists in cardiology and clinical genetics, to genetic counsellors, paediatricians, nurse specialists, and GPs who may come into contact with families presenting with inherited cardiac diseases.

Containing both a short section on the general principles of cardiovascular genetics, individual disorders are then examined in detail, each featuring a clinical summary, diagnostic tests and special investigations, and treatments relevant to each inherited cardiac disease. Written in the succinct bullet-point style of the Oxford Specialist Handbooks, this new edition of Inherited Cardiac Disease delivers key information in an accessible manner, and is an invaluable guide to anyone who works with patients who are affected by inherited diseases of the cardiovascular system in their practice.
Contributors ix
Symbols and abbreviations xi
Glossary xv
1 Introduction
1(2)
2 Genes, genome, and inheritance patterns
3(24)
3 Genetic laboratory techniques
27(22)
4 Genetic counselling
49(10)
5 Congenital heart disease
59(28)
6 Marfan syndrome and related inherited disorders of connective tissue
87(34)
7 Cardiomyopathies
121(124)
8 Inherited arrhythmias and conduction disorders
245(42)
9 Metabolic disease and neuromuscular disorders
287(38)
10 Mitochondrial cardiovascular diseases
325(18)
11 Familial hypercholesterolaemia
343(6)
12 Coronary artery disease and myocardial infarction
349(6)
13 Pulmonary arterial hypertension
355(8)
14 Hereditary haemorrhagic telangiectasia
363(4)
15 The heart and inherited haematological disorders
367(16)
16 Stroke
383(6)
Index 389
Dr Elliott studied medicine at St. Thomas's Hospital Medical School, London. After qualifying in 1987 he trained in general medicine, gaining membership of the Royal College of Physicians in 1991. He completed his general cardiology training at St. George's Hospital Medical School, London. Over the past 10 years he has established an international reputation in the field of heart muscle disease, authoring more than 170 peer reviewed papers on the subject.

Professor Lambiase is a consultant cardiologist specialising in electrophysiology at the Heart Hospital, University College London. He originally trained in Medicine at Oxford graduating in 1992. Following specialisation in Cardiology at the Hammersmith Hospital, he completed a PhD at St Thomas' Hospital London before sub-specialising in cardiac electrophysiology and pacing. He was awarded the British Cardiac Society Young Investigator prize in 2002

Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, The University of Glamorgan and Consultant in Clinical Genetics for All Wales Medical Genetics Service at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University. After qualifying in Medicine from the King George Medical College, University of Lucknow, India, he completed postgraduate training in Pediatrics with an MD. Since 1980 he has pursued a career in Medical Genetics in the UK. He is a Fellow of the American College of Medical Genetics (FACMG) and as well as Royal Colleges of Physicians (FRCP-London and FRCP-Ireland) and Pediatrics and Child Health (FRCPCH-UK). Professor Kumar's current research is focussed on inherited cardiovascular disease, specifically 'sudden cardiac death' and 'molecular genetics of chronic heart failure'. He represents and leads 'cardiovascular genetics' on the panel for cardiovascular research group in Wales.