Cardiovascular genetics and genomics : principles and clinical practice /

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Bibliographic Details
Imprint:	Cham : Springer, 2018.
Description:	1 online resource
Language:	English
Subject:	Cardiovascular system -- Diseases -- Genetic aspects. Genomics. Pharmacogenomics. Cardiovascular Diseases -- genetics. Genomics -- methods. Cardiovascular system -- Diseases -- Genetic aspects. Genomics. Pharmacogenomics.
Format:	E-Resource Book
URL for this record:	http://pi.lib.uchicago.edu/1001/cat/bib/11543139

Hidden Bibliographic Details
Other authors / contributors:	Kumar, Dhavendra, editor. Elliott, Perry, editor.
ISBN:	9783319661148 3319661140 9783319661124 3319661124 9783319661131 3319661132 9783319881799 3319881795
Digital file characteristics:	PDF text file
Notes:	Includes bibliographical references and index. Online resource; title from PDF title page (EBSCO, viewed January 24, 2018).
Summary:	This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice includes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine. This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practice鮣ludes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.
Other form:	Print version: Cardiovascular genetics and genomics. Cham : Springer, 2018 9783319661124 3319661124
Standard no.:	10.1007/978-3-319-66114-8

Table of Contents:

Intro; Foreword; Preface; Contents; Contributors; 1: Introduction toÂ Genes, Genome and Â Inheritance; 1.1 Introduction; 1.2 Basic Facts: Cell Biology, Nucleic Acids, Gene, Genome; 1.2.1 Human Genome: Structure and Â Functional Organization; 1.3 The Mitochondrial Genome: Structure and Â Function; 1.4 The Morbid Genome; 1.4.1 Genetic Variation or Genetic Differences; 1.4.2 Coding and Â Non-Coding Genome; 1.4.3 Epigenome; 1.5 Traditional Inheritance; 1.5.1 Chromosomal; 1.5.2 Mendelian; 1.5.2.1 Autosomal Recessive; 1.5.2.2 Autosomal Dominant; 1.5.2.3 X-Linked Recessive.
1.5.2.4 X-Linked Dominant1.5.3 Mitochondrial; 1.6 Polygenic/Multi-Factorial; 1.7 Nontraditional Inheritance; 1.7.1 Epigenetics/Genetic Imprinting/Uniparental Disomy; 1.7.2 Trinucleotide (Triplet) Repeats; 1.7.3 Nonallelic Homologous Recombination; 1.8 Digenic, Oligogenic and Â Multigenic Inheritance; 1.9 Mosaicism: Somatic and Â Gonadal; References; Suggested Reading; 2: Spectrum and Â Classification of Â Inherited Cardiovascular Disease; 2.1 Introduction: Why Classification is Challenging; 2.1.1 Are YouÂ aÂ â#x80;#x98;Lumperâ#x80;#x99; or aÂ â#x80;#x98;Splitterâ#x80;#x99;?
2.1.2 The Central Paradigm: AÂ Simple Disease Model2.2 Current Classification Systems; 2.2.1 Classification Based onÂ Pathology/Anatomy/Physiology; 2.2.1.1 ICD10; 2.2.1.2 Online Inheritance inÂ Man (OMIM); 2.2.1.3 Sequential Anatomical Classification; 2.2.2 Classification Based onÂ Genetic Mechanism; 2.2.3 Classification Based onÂ Molecular Pathway; 2.2.3.1 Ion Channelopathy; 2.2.3.2 Familial Cardiomyopathy; Familial Hypertrophic Cardiomyopathy (fHCM); Heterogeneity inÂ Dilated Cardiomyopathy: Multiple MolecularÂ Mechanisms; Laminopathy; Titinopathy.
Limb Girdle Muscular Dystrophies (LGMD)Metabolic Disorders; Right Ventricular Cardiomyopathy and Â Desmosomal Diseases; Familial Thoracic Aneurysm/Dissection; 2.3 The Future: Combining Classification Systems; 2.4 Summary; References; 3: Principles and Â Practice of Â Genetic Counselling forÂ Inherited Cardiac Conditions; 3.1 Introduction; 3.2 Family History; 3.2.1 Information Gathering; 3.2.2 Inheritance Patterns; 3.2.3 Red Flags; 3.2.4 Conduction Disease; 3.2.5 Alternative Inheritance and Â Other Non-Cardiac Features; 3.3 Genetic Testing; 3.3.1 Diagnostic Genetic Testing.
3.3.2 When toÂ Offer aÂ Diagnostic Test?3.3.3 Who Should Have aÂ Diagnostic Test?; 3.3.4 What Type of Â Sample toÂ Test?; 3.3.5 Possible Outcomes of Â Diagnostic Testing inÂ anÂ Affected Family Member; 3.3.6 Predictive Genetic Testing; 3.3.6.1 Possible Outcomes of Â Predictive Testing; 3.3.7 Genetic Testing inÂ Children; 3.3.8 Consent forÂ Genetic Testing; 3.3.8.1 Is Consent Required?; 3.3.8.2 Who Should Give Consent?; 3.3.8.3 Qualifying Relationships; 3.3.9 Living Child; 3.3.9.1 Deceased Child; 3.3.10 Have They Sufficient Information toÂ Understand?

Cardiovascular genetics and genomics : principles and clinical practice /

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