Genomic and Molecular Cardiovascular Medicine

1st Edition - June 20, 2024
Imprint: Academic Press
Editors: Dhavendra Kumar, Arthur A.M. Wilde, Perry Mark Elliott
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 2 2 9 5 1 - 4
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 2 2 9 2 0 - 0

The Genomic and Molecular Cardiovascular Medicine largely focuses on pertinent genomic and molecular aspects of cardiovascular medicine relevant to all levels of clinical practice,… Read more

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The Genomic and Molecular Cardiovascular Medicine largely focuses on pertinent genomic and molecular aspects of cardiovascular medicine relevant to all levels of clinical practice, from primary care to preventive healthcare. The book also focuses on practice applications of translational genomic and molecular developments and advances that impact on cardiovascular system structure and function. Each chapter is evidence-based and comprehensive, with in-depth, cutting-edge knowledge relevant to the practice of clinical cardiology and cardiovascular surgery. The book aims to fill a major gap of knowledge resource focused on genomic and molecular aspects of contemporary cardiovascular medicine and surgery practice.

In view of scientific and technical complexities of the field, the book is written by a team of globally acknowledged experts in respective clinical, investigative, therapeutic and preventive aspects. The current practices within cardiovascular medicine and surgery offer excellent opportunity for genomic and molecular applications to achieve the high order effectiveness with maximum efficiency.

Cover image
Title page
Table of Contents
Copyright
Contributors
Foreword
Preface
Chapter 1. Introduction to genomic and molecular biology
Introduction
Basic facts – Cell biology, nucleic acids, gene, genome
The morbid genome
Traditional inheritance
Non-traditional inheritance
Summary – Key learning points
Chapter 2. Genetic and genomic technologies for inherited cardiovascular conditions
Introduction: What is ‘next generation sequencing’ and why we need it in inherited cardiovascular conditions
Next-generation sequencing technologies
The interpretation of next-generation sequencing results
Transcriptomics and proteomics: From genes to functional defects
Clinical information
Chapter 3. Cardiovascular embryology and foetal heart development
Introduction
Genetics of cardiac development
Use of animal models in the exploration of genetics of CHD
Early embryological development
Heart looping and creation of atria
Valve development
Formation of septa
Outflow tract development
Development of the myocardium and coronary vasculature
Conclusions
Chapter 4. Genomic basis of heart rate and rhythm generation
The cardiac conduction system
The cardiac action potential
The sinoatrial node
Atrial cardiomyocyte impulse propagation
Atrioventricular nodal conduction
The His-Purkinje system
The ventricular myocardium
Ectopic rhythms
Clinical implications
Summary
Chapter 5. Molecular and immunological basis of pulmonary arterial hypertension and pulmonary veno-occlusive disease
Introduction
Molecular basis for pulmonary arterial hypertension and pulmonary veno-occlusive disease
Immunological and cellular basis for pulmonary arterial and venous pulmonary hypertension
Innate immunity
Linking innate and adaptive immunity
Adaptive immunity
Immunomodulatory therapy in PAH and PVOD
Summary and conclusions
Chapter 6. Genetic and immunogenetic basis of myocarditis
Introduction
Aetiopathogenesis of myocarditis
Clinical presentation and diagnosis of myocarditis
Myocarditis and genetics
Conclusions
Chapter 7. Cardiovascular metabolomics
Metabolomics
Sources of metabolites relevant to cardiovascular system
Cardiovascular disorders and metabolomics
Applications of cardiovascular metabolomics: Dietary modulation of the gut microbiome
Chapter 8. Developmental disorders of the heart
Introduction
Genetic testing in CHD
Epigenetics and congenital heart disease
Clinical approach to genetic assessment of CHD
Conclusions
Chapter 9. Application of molecular genetics to congenital vascular anomalies
Clinical characteristics of vascular anomalies: example lymphatic malformations
Lymphatic malformation related to syndromes
Unexplained features of head and neck lymphatic malformations
Genetic aetiology of head and neck lymphatic malformation
Therapy for head and neck lymphatic malformations based on malformation genotype
Conclusions
Chapter 10. Aortic and arterial diseases (Aortopathies)
The aorta
Aortic aneurysm
Syndromic thoracic aortic disorders
BAV-related TAA
Non-syndromic TAA
Aortic aneurysmal disease-related mechanisms
Molecular diagnostics
Conclusion and future perspectives
Chapter 11. Collagenopathies – The Ehlers-Danlos syndromes
The Ehlers-Danlos syndromes, a general introduction
Clinical hallmarks of the Ehlers-Danlos syndromes
Vascular Ehlers-Danlos syndrome
Classical EDS
Kyphoscolitic EDS
EDS types caused by defects in non-collagenous ECM molecules
Diagnostic approach
Chapter 12. Collagenopathies: Osteogenesis imperfecta and related disorders
Aetiology of OI
Classification of OI
Genetics of OI
Clinical manifestations in OI
Diagnosis in OI
Management in OI
Chapter 13. Cardiomyopathies – Inherited subtypes and phenocopies
Introduction
Hypertrophic cardiomyopathy
Inherited and acquired phenocopies of HCM
Restrictive cardiomyopathy
Dilated cardiomyopathy
Arrhythmogenic right ventricular cardiomyopathy
Summary and conclusions
Chapter 14. Inherited channelopathies and acquired phenocopies
Long QT syndrome: Inherited and acquired phenocopies
Catecholaminergic polymorphic ventricular tachycardia: Inherited and acquired phenocopies
Brugada syndrome: Inherited and acquired phenocopies
Chapter 15. Genetics of pulmonary arterial hypertension
Introduction
Clinical presentation
Clinical diagnosis
Genes associated with pulmonary arterial hypertension
Genotype–phenotype correlation
Genetic testing
Clinical validity
Possible implications of genetic testing for treatment
Closing remarks
Chapter 16. Genetic and metabolic perspectives of heart failure
Introduction
Causes and classification of the heart failure
Proteomics and metabolomics of heart failure
Conclusion
Chapter 17. Disorders manifesting with systemic hypertension
Introduction
Blood pressure regulation – Key systems
Genetics of hypertension
Monogenic forms of systemic hypertension
Genetic overlap of monogenic forms of hypertension and essential hypertension
Clinical implications from genetic studies of hypertension
Useful URLS
Chapter 18. Monogenic causes of stroke
Introduction
Diagnosing a monogenic cause of stroke
Conclusions
Chapter 19. Cardiovascular pharmacogenomics – Molecular basis of protective and adverse drug response
Evolution of pharmacogenomics
Scope of pharmacogenomics
Actionable pharmacogenes
Clopidogrel
Warfarin
Direct-acting oral anti-coagulants
Statins
Cardiovascular pharmacogenomics: Beta blockers
Hydralazine
Antiarrhythmic drugs
PGx implementation
Conclusions
Chapter 20. Cardiovascular precision and personalised medicine
Introduction
Genomic diagnosis in cardiovascular medicine
Targeted precision cardiovascular therapy
Stem cells research and precision clinical models
New drug development, pharmacogenomics and precision medicine
Cardiovascular database for precision medicine
Implementing precision cardiovascular medicine
Conclusions
Chapter 21. Principles of novel cellular and molecular cardiovascular therapeutics
Introduction
Myocardial regeneration
Neovascularisation
Emerging precision medicine therapies
Future perspectives
Chapter 22. Gene annotation: Resources for the heart
Introduction
Ontology-based resources
Gene Ontology
Human Phenotype Ontology
Human Disease Ontology
Identification of risk genes associated with cardiovascular diseases
Identification of key pathways associated with cardiovascular diseases
Conclusion
Chapter 23. Nursing care and genetic counselling in inherited cardiovascular conditions
Introduction
The role of the cardiovascular genetic nurse
Nursing considerations in inherited cardiovascular conditions
Patient support groups
Coping with a diagnosis
Genetic counselling
Conclusion
Chapter 24. Preventive cardiology
The spectrum of inherited cardiac conditions
Risks of sudden cardiac death in inherited cardiac conditions
Preventing SCD – Primary and secondary preventative strategies
Future directions
Summary
Chapter 25. Inherited cardiac conditions in sports medicine
Introduction
The cardiomyopathies
The channelopathies
Other inherited cardiac conditions
Conclusion
Case studies
Chapter 26. Community and population cardiology
Introduction
The first steps towards a cardiogenetic diagnosis
After the diagnosis in an index case
Uptake and cost of cascade screening
Inequity of access
Strategies of identification – From index to population
Population screening for cardiogenetic conditions
Conclusion
Glossary – Commonly used terms and phrases in cardiovascular genomic and molecular medicine
Index

Dhavendra Kumar

Professor Kumar has considerable previous experience in writing and editing books and journals related to genetics and genomics. His books include Genomics and Clinical Medicine and Genomics and Health in the Developing World. He founded and leads the new open access journal Applied and Translational Genomics, published by Elsevier. He has published 40 articles in the journals literature.

Professor Dhavendra Kumar is a Visiting Professor, Genomic Policy Unit, Faculty of Life Sciences and Education, The University of South Wales and Consultant in Clinical Genetics at the University Hospital of Wales, Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom. He is one of the Consultants for the All Wales Medical Genetics Service and the lead Clinician for Clinical Cardiovascular Genetics. After qualifying in Medicine from the King George’s 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. In 1990 he became a Diplomate of the American Board of Medical Genetics. 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).

In 2015, he was conferred with the higher degree of DSc by his Alma Mater, King George’s Medical University, Lucknow (UP, India) based on his life-time contributions and achievements to genetic and genomic applications in medicine and health.

Affiliations and expertise

Honorary Clinical Professor, William Harvey Research Institute, Queen Mary University of London, UK

Arthur A.M. Wilde

Dr. Arthur A. M. Wilde is a clinical Cardiologist and translational researcher with a focus in electrophysiology, cardiogenetics and inherited arrhythmias. In Amsterdam University Medical Centers (location AMC), his lab is one of the first worldwide to start an outpatient cardiogenetic clinic. Over the years they have seen thousands of patients and families with inherited arrhythmia syndrome. This is the basis of his Academic Research, which is focused on inherited cardiac diseases which are associated with sudden cardiac death. Different aspects, including gene discovery, genotype-phenotype relationships and new treatment modalities have been and are being covered. Dr. Wilde has been the coordinator of the European Reference Network GUARD-Heart (The ERN for rare cardiac diseases) since 2017.

Affiliations and expertise

Professor in Cardiology, Heart Centre, Department of Clinical and Experimental Cardiology, Academic Medical Centre, University of Amsterdam, Amsterdam, The Netherlands

Perry Mark Elliott

Perry Elliott) is Professor of Cardiovascular Medicine and director of the Centre for Heart Muscle Disease at University College London (UCL) and a consultant cardiologist in the Centre for Inherited Cardiovascular Disease at St. Bartholomew's Hospital London, UK. He is Chairman of the ESC Heart Academy and the ESC Council on Cardiovascular Genomics. He is past Chairman of the ESC Working Group on Myocardial and Pericardial Diseases (2010–2012), the Executive Committee for the European Outcomes Research Programme (EORP) registry on cardiomyopathies and the ESC Guideline Task Force on Hypertrophic Cardiomyopathy. He is President of Cardiomyopathy UK, Europe’s foremost charity for patients with heart muscle disease. Over the past 25 years, Prof. Elliott has established an international reputation in the field of heart muscle disease, authoring more than 500 peer-reviewed papers on the subject. He develops diagnostic standards, risk stratification tools and clinical service models.

Affiliations and expertise

Professor of Cardiovascular Medicine and Director, Centre for Heart Muscle Disease, University College London, London, UK

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health

Genomic and Molecular Cardiovascular Medicine

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Dhavendra Kumar

Arthur A.M. Wilde

Perry Mark Elliott

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