Inherited Cardiac Disease

Perry Elliott; Pier D. Lambiase; Dhavendra Kumar
Pub date
May 2011
Oxford Specialist Handbooks in Cardiology
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Many heart conditions are inherited and if not diagnosed and managed appropriately place the patient at risk of blackouts, weakening of the heart, or sudden death.While individually uncommon, inherited diseases of the cardiovascular system collectively represent a major health burden. Current recommendations suggest that individuals and families affected by inherited cardiovascular diseases should have access to specialist care in the form of multidisciplinary teams, with particular knowledge and experience in the diagnosis and management of these conditions. As a result, multidisciplinary services for inherited cardiovascular diseases, involving cardiologists, clinical geneticists, specialist nurses and genetic counsellors, are being developed throughout Europe. Inherited Cardiac Disease provides healthcare specialists involved in the diagnosis and treatment of inherited cardiovascular disorders with a clinically relevant summary of genetic diseases and readily accessible information that can be used in everyday practice. Containing summaries of most common inherited cardiovascular disorders and describing cardiomyopathies, inherited arrhythmia syndromes, and other inherited cardiovascular syndromes with a focus on aetiology, presentation and management, it also provides the non-specialist with a detailed knowledge of inherited cardiovascular diseases, from the fundamentals of molecular biology and genetic testing to the detailed clinical information relevant to patient management.


1. Introduction
2. General principles of medical genetics
3. Genetic laboratory techniques
4. Genetic counselling
5. Genetic testing and genetic screening
6. Congenital heart disease
7. Cardiovascular manifestations in chromosomal disorders
8. Cardiomyopathies
9. Inherited arrhythmias and conduction disorders
10. Inherited disorders of connective tissue
11. Familial hypercholesterolaemia
12. Coronary artery disease and myocardial infarction
13. Stroke
14. Pulmonary arterial hypertension
15. Hereditary Haemorrhagic Telangiectasia (HHT)
16. Cardiac manifestations in inherited skeletal muscle disease
17. Mitochondrial disease
18. Cardiovascular disorders and inherited metabolic disease
19. The heart and inherited haematological disorders
20. Therapeutic approaches in cardiovascular genetics

About the author: 

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. Dr Elliott chairs The National Coroner/Pathologist sub-group of the National Service Framework implementation board and is chair and co-founder of the UK Cardiac Pathology Network. In 2009, he was appointed as Deputy Editor of The Heart Journal. ; Dr Lambiase is a senior lecturer and 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, He conducts a national sudden arrhythmic death syndrome (SADS) family screening clinic at the Heart Hospital and undertakes research investigating arrhythmia mechanisms in cardiomyopathy and ion channel disorders funded by the British Heart Foundation and Heart UK. ; 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.

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