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دانلود کتاب Clinical Cardiogenetics

دانلود کتاب کاردیوژنتیک بالینی

Clinical Cardiogenetics

مشخصات کتاب

Clinical Cardiogenetics

ویرایش: 3 
نویسندگان: , , ,   
سری:  
ISBN (شابک) : 9783030454562 
ناشر: SPRINGER 
سال نشر: 2020 
تعداد صفحات: 453 
زبان: English 
فرمت فایل : PDF (درصورت درخواست کاربر به PDF، EPUB یا AZW3 تبدیل می شود) 
حجم فایل: 24 مگابایت 

قیمت کتاب (تومان) : 58,000



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توضیحاتی درمورد کتاب به خارجی

This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion.





Clinical Cardiogenetics compiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.








02
02
This practical cardiogenetic reference is for those who are involved in the care for cardiac patients with a genetic disease. It contains detailed discussion of the basic science of cardiogenetics in order to assist in the clinical understanding of the topic.




03
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Clinical management and signsare 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?




04
02
Molecular Genetics.- Clinical genetics.- Differential diagnosis of cardiomyopathies.- Hypertrophic Cardiomyopathy.- Dilated Cardiomyopathy.- Arrhythmogenic Cardiomyopathy.- Non-Compaction Cardiomyopathy.- Hereditary neuromuscular diseases and cardiac involvement.- Fabry disease.- Long QT Syndrome.- Brugada Syndrome.- Short QT Syndrome.- Cathecholaminergic Polymorphic VT.- Sudden death and Idiopathic Ventricular Fibrillation.- Thoracic Aortic Aneurysm Dissection.- Bicuspid aortic valve.- Premature coronary artery disease.




13
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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.









18
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This thoroughly revised third edition provides a comprehensive grounding on hereditary heart diseases with special emphasis on the genetic aspects of these conditions. It continues to provide the expertise that all cardiologists, clinical and molecular geneticists, and related medical professionals require to provide optimal care for patients with cardiac disease of genetic origin and for their relatives. Topics covered include the different cardiomyopathies, the primary arrhythmia syndromes and the hereditary thoracic aortic disorders. In addition other topics such as cardiac involvement in hereditary neuromuscular diseases, the clinical policy for sudden cardiac death and the possibilities of pre-implantation genetic diagnosis are included to extend the discussion.





Clinical Cardiogeneticscompiles current knowledge on the topic in an easy to understand reference. It provides a practical clinical primer for cardiologists, clinical geneticists, trainees and other physicians involved in the management of these patients.





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Represents a practical cardiac genetics textbook for the clinician and trainee in cardiology

Contains detailed information on disease-causing genes

Features a bench-to-bedside approach to enable readers to appreciate future developments in this discipline




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فهرست مطالب

Preface
Contents
Contributors
Part I: Genetics
	1: Introduction to Molecular Genetics
		Introduction
		DNA, RNA, and Proteins
		Genetic Mutations
		Genes in Families and Populations
		Modes of Inheritance
		Penetrance and Disease Expressivity
		Genetic Heterogeneity
		Multifactorial Inheritance
		Molecular Genetic Techniques from Past to Future
		Cytogenetics
		Molecular DNA Techniques
		NGS
		Analysis and Interpretation
			Variant Classification
		Data Quality Issues and NGS
		Reporting of Results
		Finding New Disease Genes
		Clinical Genetic Diagnostics
		References
	2: Clinical Genetics
		Introduction
			The Clinical Genetic Intake
				Family History
			Pedigree Construction
			Basic Concepts in Inherited Disease
			Mitosis and Meiosis
				Chromosomal Abnormalities
				Inheritance Patterns
			Single-Gene Disorders: Mendelian Inheritance
				Autosomal Dominant Inheritance
				Autosomal Recessive Inheritance
				X-Linked Recessive Inheritance
				X-Linked Dominant Inheritance
			Non-Mendelian Inheritance
				Multifactorial Inheritance
				Maternal (Mitochondrial) Inheritance
			New (De Novo) Mutations
			Mosaicism
			On Penetrance and Variable Expressivity
		Genotype–Phenotype Correlations
		Basic Concepts in Population Genetics
			Hardy–Weinberg Equilibrium
			Mutation–Selection Equilibrium
		Founder Mutations
		Genetic Isolates
			Consanguinity
			Genetic Testing
			Genetic Counseling
			Cardiac Genetic Counseling
		Cardiac Genetic Testing
			Pre- and Posttest Genetic Counseling
			Interpreting Genetic Test Results
				Controls
		Predictive Testing and the Dynamics of Family Studies
			Predictive DNA Testing
			Adverse Consequences of Predictive Testing
			Predictive Testing in Minors
				Conducting Family Studies
			Prenatal Diagnosis
			The Cardiogenetics Outclinic
		References
Part II: Cardiomyopathies
	3: Introduction to Hereditary Cardiomyopathies
		Hypertrophic Cardiomyopathy
		Dilated Cardiomyopathy
		Arrhythmogenic Cardiomyopathy
		Restrictive Cardiomyopathy
		Non-compaction Cardiomyopathy
		Take-Home Message
		References
	4: Hypertrophic Cardiomyopathy
		Introduction
		Etiology/Pathophysiology
		Clinical Presentation
		Genotype Specific
		Clinical Diagnosis
		Differential Diagnosis
		Molecular Diagnosis
			Disease Penetrance
		Therapy
		Risk Stratification for SCD
		ICD Indications
		Recommendations During Pregnancy and Delivery
			Follow-Up During Pregnancy
			Management During Labor and Delivery
		Follow-Up Advices
		Family Screening (Fig. 4.6)
		Take-Home Messages
		References
	5: Dilated Cardiomyopathy
		Introduction
		Clinical Presentation
			Etiology of DCM
		Clinical Diagnosis
		Clinical Therapy
		Molecular Diagnostics
		Molecular Genetics
			TTN
			LMNA
			Other Genes
		Family Screening
			Familial DCM and Affected Relatives
			Cardiac Screening of Relatives
			Genetic Testing Approach
		Summary
		Take-Home Messages
		References
	6: Arrhythmogenic Cardiomyopathy
		Introduction
		Etiology/Pathophysiology: Theory of Desmosomal Dysfunction
		Clinical Presentation
			Classical Form of ACM, Also Defined as ARVC
			Other Forms of ACM
		Naxos Disease
		Carvajal Syndrome
		Clinical Diagnosis
			ECG Criteria
				Depolarization Abnormalities
				Repolarization Abnormalities
				Arrhythmias
				Global and/or Regional Dysfunction and Structural Alterations
				Tissue Characterization
				Family History
		Differential Diagnosis
		Molecular Diagnosis
			Autosomal Recessive ACM
			Autosomal Dominant ACM
			Other, Nondesmosomal, Genes
		Therapy, Risk Stratification, and ICD Indications
		Recommendations During Pregnancy and Delivery
		References
	7: Left Ventricular Noncompaction
		Introduction
			Description of disease
			Prevalence
		Aetiology/Pathophysiology
			Pathology
				Macroscopy
				Microscopy
		Clinical Presentation
		Clinical Diagnosis
		Differential Diagnosis
		Molecular Diagnosis
			Molecular Defects in LVNC
			Genotype–Phenotype Correlations
			Isolated LVNC
			Nonisolated LVNC
			Congenital Heart Disease
			Neuromuscular Disease
			Syndromes
			Mitochondrial Disorders
			Diagnostic Work-up
			Therapy
		Risk Stratification and Indications for ICD Implantation
			Prognosis
		Recommendations During Pregnancy and Delivery
		Follow-Up Advice
		Family Screening
			Molecular and Cardiologic Family Screening
		Summary
		Take-Home Messages
		References
	8: Restrictive Cardiomyopathy
		Introduction
		Clinical Presentation and Diagnosis
		Differentiation from Constrictive Pericarditis
		General Treatment of RCM
			Infiltrative Causes of RCM
				Sarcoidosis
				Cardiac Amyloidosis
				Hemochromatosis
					Clinical Features
					Diagnostic Evaluation
					Treatment
			Primary Genetic RCM
			Lysosomal Storage Diseases
				Fabry Disease
				Gaucher Disease
				Glycogen Storage Disease
				Mucopolysaccharidoses
			Cardiovascular Causes of RCM
				Pseudoxanthoma Elasticum
				Scleroderma/Systemic Sclerosis
			Endo(Myo)Cardial Causes of RCM
				Endomyocardial Fibrosis, Endocardial Fibroelastosis and Hypereosinophilic Syndromes
			Cancer-Related Causes of RCM
				Radiation-Induced Heart Disease
				Approach to a Patient Suspected of RCM
		Summary
		Take-Home Messages
		References
	9: Metabolic Cardiomyopathy
		Introduction
		Incidence and Prevalence
		Aetiology/Pathophysiology
		Clinical Presentation
		Examples of Inborn Errors of Metabolism Associated with Cardiac Involvement
			Disorders of Amino Acid and Organic Acid Metabolism
			Disorders of Fatty Acid Metabolism
				Carnitine Transport Defects
				Fatty Acid Oxidation Defects
			Lysosomal Storage Diseases (LSDs)
			Glycogen Storage Diseases (GSDs)
		Summary
		Take-Home Message
		References
	10: Cardiac Amyloidosis
		Introduction
		Etiology/Pathophysiology
			Pathophysiology of Heart Failure in Cardiac Amyloidosis
			Clinical Presentation
		Diagnostic Tests
			Electrocardiography
			Echocardiography
			Cardiac Magnetic Resonance Imaging
			Nuclear Imaging Techniques
			Histological Diagnosis
		Therapy for Cardiac Amyloidosis
			Heart Failure Therapy
			Cardiac Transplantation
			AL Amyloidosis and Heart Transplantation
			ATTR Amyloidosis and Heart/Liver Transplantation
			Novel Treatment Strategies for ATTR
			Cardioverter Defibrillators in Cardiac Amyloid
		Pregnancy and Family Screening
		Summary and Take-Home Message
		References
	11: Mitochondrial Cardiomyopathies
		Introduction
		Etiology
		Clinical Presentation
		Clinical Diagnosis
		Differential Diagnosis
		Molecular Diagnosis
		Therapy
		Risk Stratification
		Recommendations During Pregnancy and Delivery
		General and Specific Recommendations, ICD Recommendations, Follow-Up Advice
		Family Screening
		Summary
		Take-Home Message
		References
Part III: Inherited Arrhythmia Syndromes
	12: Long QT Syndrome
		Introduction
			Aetiology/Pathophysiology
			Molecular Genetics
			Mechanisms of Arrhythmia in LQTS
		Clinical Presentation
			Genotype-Phenotype Correlation
			Natural History
		Clinical Diagnosis
			Diagnostic Criteria: Taskforce Criteria and Expert Opinion
			Electrocardiographic Features of LQTS
				QT Interval
				T-Wave Morphology
				T-Wave Alternans
				Post-Ectopic QT Prolongation
				Sinus Node Dysfunction
			Clinical Evaluation
				Clinical History and Examination
				ECG
				Cardiac Imaging
				Holter
				Lying/Standing ECG
				Exercise ECG
				Epinephrine Challenge
		Differential Diagnosis
			Multisystem Disorders
		Molecular Diagnosis
			Unclassified Variants and Importance of Genotype-Phenotype Correlation
			Genetic Modifiers
		Risk Stratification
			Age and Gender
			Physiological States
			Family History
			Symptoms
			QTc Interval
			Genotype
		Management/Therapy
			Lifestyle
			Drugs to Avoid
			Competitive Sports
			Drug Therapies
			ICD Indications
			Surgical Options
		Recommendations during Pregnancy and Delivery
		Follow-Up Advice
		Family Screening
			Cascade Molecular Screening
			Cascade Clinical Screening and Follow-Up Advice
		Summary
		References
	13: Short QT Syndrome
		Introduction
		Clinical Presentation
			Triggers of VF
		Clinical Diagnosis of SQTS and Prevalence
			What Is a Normal QTc Interval?
			QT Adaptation to Heart Rate
			Other Cardiac Findings in SQTS Patients
			Invasive Electrophysiological Studies in SQTS
			Diagnostic Score and Guideline Recommendations
		Genetic Background
		Pathophysiological Insights in SQTS
		Pharmacological Therapy and Follow-up of SQTS
		ICD Therapy in SQTS
		Risk Stratification in SQTS
		Summary
		References
	14: Brugada Syndrome
		Introduction
			Definition
			Disease Burden
		Clinical Presentation and Diagnosis
			Symptoms
			Resting Electrocardiogram
			Pharmacological Tests and Other Diagnostic Tools
			Structural Changes
		Differential Diagnosis
			Brugada Phenocopies
		Molecular Diagnosis
			Genetic Interpretation and Clinical Translation
			Genetic Modulators
		Cellular Therapy
		Risk Stratification
		Treatment
			Implantable Cardioverter Defibrillator
			Pharmacological Approach
			Radiofrequency Catheter Ablation
		Pregnancy
		Children
		Older Individuals
		Summary
		References
	15: Catecholaminergic Polymorphic Ventricular
		Introduction
		Aetiology
		Clinical Presentation
		Clinical Diagnosis
		Differential Diagnosis
		Molecular Diagnostics
			DNA Testing
			CPVT Genes
			CPVT Phenocopies
		Therapy (Table 15.2)
			β-Blockers
			Calcium Channel Blockers
			Sodium Channel Blockers
			Left Cardiac Sympathetic Denervation
			Lifestyle
		Risk Stratification
		Implantable Cardioverter-Defibrillator Indications
		Recommendations During Pregnancy and Delivery
		Family Screening
		Summary
		References
	16: Idiopathic Ventricular Fibrillation and Early Repolarization Syndrome
		Idiopathic Ventricular Fibrillation
		Early Repolarization Syndrome (ERS)
			Introduction
			Clinical Presentation of ERS
			Clinical Diagnosis and Differential Diagnosis
			Clinical Therapy
			The Mechanism of an ER Pattern and Early Repolarization Syndrome
			Molecular Diagnostics and Molecular Genetics
			Family Screening and Follow-Up in Relatives
			Summary
			Idiopathic Ventricular Fibrillation Without an ER Pattern
				IVF Related to His-Purkinje Conduction Disturbances
					Deletion of Irx3 in the Mouse Model
					IRX3 Mutations Related to IVF
					Other IVF Related to Conduction Disturbances
					Short-Coupled Variant of Torsade de Pointes
				IVF Related to Overexpression of DPP6
				Possible Gene Mutations for Other Types of IVF Without an ER Pattern
				Summary
		References
	17: Hereditary Cardiac Conduction Diseases
		Introduction
		Clinical Presentation
		Diagnosis and Differential Diagnosis
		Clinical Therapy and Follow-Up
		Molecular Diagnostics
		Molecular Genetics
			SCN5A
			TRPM4
			LMNA
			CCD Associated with Congenital Heart Defects: NKX2–5 and TBX5
			CCD Associated with Muscular Dystrophies: An Overview
			Other CCD Genes
		Family Screening
		Summary and Take-Home Messages
		References
	18: A Molecular Genetic Perspective on Atrial Fibrillation
		Introduction
		Epidemiology
		Molecular Background
		Pathophysiology
		Molecular Genetics
		Potassium Channels: Gain-of-Function Mutations
			KCNQ1
			KCNE2 and KCNJ2
			KCNH2
		Potassium Channels: Loss-of-Function Mutations
			KCNA5
		A Potassium Channel Variant and “Secondary Hit” Hypothesis
		Are Potassium Channel Mutations Common?
		Cardiac Gap Junctions
		Sodium Channels: Loss-of-Function Mutations
		Sodium Channels: Gain-of-Function Mutations
		Atrial Natriuretic Peptide
		Atrial Myosin Light Chain 4
		Unknown Loci
		Genome-Wide Association Studies
		The Autonomic Nervous System
		Clinical Aspects: Genetic Diagnosis and Targeted Therapy
		Summary
		References
Part IV: Hereditary Thoracic Aortic Diseases
	19: Heritable Thoracic Aortic Diseases: Syndromal and Isolated (F)TAAD
		Introduction
		Clinical Presentation
			Marfan Syndrome
			Loeys-Dietz Syndrome
			Vascular Ehlers-Danlos Syndrome
			Multisystemic Smooth Muscle Dysfunction Syndrome
			Nonsyndromic H-TAD
		Clinical Diagnosis and Differential Diagnosis
			Clinical Diagnosis
				Marfan Syndrome
				Loeys-Dietz Syndrome
				Vascular Ehlers-Danlos Syndrome
				Multisystemic Smooth Muscle Dysfunction Syndrome
				Nonsyndromic H-TAD
			Differential Diagnosis
		Clinical Therapy
			Marfan Syndrome
				Medical Treatment
				Surgical Treatment
				Follow-Up
				Lifestyle Advice
				Endocarditis Prophylaxis
				Pregnancy
				Management of Other Manifestations
			Loeys-Dietz Syndrome
				Cardiovascular Management
				Management of Other Manifestations
			Vascular Ehlers-Danlos Syndrome
			Multisystemic Smooth Muscle Dysfunction Syndrome
			Nonsyndromic H-TAD
		Molecular Diagnostics
			Marfan Syndrome
			Loeys-Dietz Syndrome
			Vascular Ehlers-Danlos Syndrome
			Multisystemic Smooth Muscle Dysfunction Syndrome
			Nonsyndromic H-TAD
		Molecular Genetics and Specific Consequences of the Genotype
			Marfan Syndrome
				Molecular Genetics
				Pathophysiology
				Genotype-Phenotype Correlation
			Loeys-Dietz Syndrome
				Molecular Genetics
				Pathophysiology
			Vascular Ehlers-Danlos Syndrome
				Pathophysiology
				Genotype/Phenotype Correlation
			Multisystemic Smooth Muscle Dysfunction Syndrome
			Nonsyndromic H-TAD
				Molecular Genetics
				Pathophysiology
				Genotype/Phenotype Correlations
		Family Screening and Follow-Up in Relatives
		Summary/Take-Home Message
		References
	20: Bicuspid Aortic Valve
		Introduction
		Pathophysiology
		Clinical Presentation
		Clinical Diagnosis
			Diagnosing BAV
			Diagnosing BAV-Related Cardiovascular Manifestations
		Differential Diagnosis
		Molecular Diagnosis
			Molecular Genetics
				BAV Genes in Humans
				BAV in Animal Models
			Molecular Diagnostic Testing
		Patient Management
			Medical Therapy
			Surgical Intervention
			Cardiovascular Management in Pregnancy
			Sports Recommendations
		Patient Follow-Up
		Family Screening
			Cascade Clinical Screening
			Cascade Molecular Screening
		Conclusions
		References
Part V: Miscellaneous
	21: Sudden Cardiac Death in the Young: Post-mortem Investigation and Cardiogenetic Evaluation of Victims and Their Relatives
		Introduction
		After the Event
		Autopsy and Toxicological Screening
		Post-mortem Imaging
		Molecular Autopsy
		Cardiogenetic Evaluation of First-Degree Relatives of Young SCD Victims
			Phenotypic Screening
			Mutation-Positive SCD Victim
			Mutation-Negative SCD Victim
			Yield of Cardiogenetic Evaluation
		Conclusion
		References
	22: Hereditary Neuromuscular Diseases and Cardiac Involvement
		Introduction
		Muscle Disorders
			Muscular Dystrophies
				Sarcolemma-Associated Proteins/Structural Proteins
				Proteins with Enzymatic Activity
				Inner Nuclear Membrane Proteins
			Nucleotide Repeat Disorders with Myotonia
				Myotonic Dystrophy
				Myotonic Dystrophy Type 2
			Ion Channel Disorder Associated with Periodic Paralysis and Heart Involvement
				Andersen Syndrome
			Myofibrillar Myopathies
			Congenital Myopathies
				Central Core Disease
				Nemaline Rod Myopathy
				Myosin Storage Myopathy
				Centronuclear Myopathy with Cardiomyopathy
			Metabolic Disorders Affecting Muscle
				Lysosomal Glycogenosis
				Mitochondrial Disorders
		Neuropathies
			Familial Amyloid Polyneuropathy (TTR Amyloidosis)
			Charcot-Marie-Tooth Disease Type 2 Caused by Lamin A/C Mutations
			Refsum’s Disease
		Summary
		References
	23: Genetic Disorders of Lipoprotein Metabolism: Diagnosis and Management
		Introduction
		Structure of Lipids and Lipoproteins
		Lipid and Lipoprotein Metabolism
		Absorption of Exogenous and Endogenous Lipids
		Endogenous Synthesis of Lipids and Lipoproteins
		HDL Metabolism and RCT
		Genetic Causes of Elevated LDL-C Levels
		Familial Hypercholesterolemia
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Familial Defective Apolipoprotein B
			Genetics
			Clinical Characteristics, Diagnosis, and Management
		Autosomal Recessive Hypercholesterolemia
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Familial Combined Hyperlipidemia
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Sitosterolemia
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Genetic Causes of HDL-C Disorders
		Apolipoprotein AI Deficiency
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		ABCA1 Deficiency and Tangier Disease
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Familial LCAT Deficiency and Fish-Eye Disease
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Genetic Disorders of CETP
			Genetics
			Clinical Characteristics
		Genetic Causes of Elevated Triglycerides
		Familial chylomicronemia syndrome: LPL Deficiency and Apo-CII Deficiency
			Genetics
			Clinical Characteristics
			Diagnosis
			Treatment
		Familial Dysbetalipoproteinemia (Apo E2/E2 Deficiency)
			Genetics
			Clinical Characteristics
			Diagnosis
			Management
		Familial Combined Hyperlipidemia
		Familial Hypertriglyceridemia
			Clinical Characteristics
			Diagnosis
			Management
		Summary
		References
	24: Genetics of (Premature) Coronary Artery Disease
		Introduction
		Importance of Family History
		Familial Forms of Coronary Artery Disease
			MEF2A
			GUCY1A1
		Heritability Estimates of Coronary Artery Disease
		Heritability of Coronary Anatomy and Pathology
		Genes Affecting Coronary Artery Disease
		Genome-Wide Association Studies for CAD and MI: Novel Insights
		Annotation of CAD Loci and Druggability
		Chromosome 9p21.3
		Pleiotropic Effects of Chromosome 9p21.3
		Pathophysiology Behind Chromosome 9p21.3
		SORT1: LDL-C and Beyond
		ADAMTS-7: Protective Role in Atherosclerosis
		ZC3HC1: Single Nonsynonymous SNP Hit
		Chromosome 6q26–27: Haplotype Approach Links Risk SNPs to Lp(a)
		Genetic Architecture of (Premature) Coronary Artery Disease
		Genetic Variants and Relevance for Therapeutic Development
		General Lessons from Modern CAD Genetics
		Is Genetic Risk Prediction Feasible?
		Cardiovascular System Genetics
		Summary/Take Home Message
		Advice for the Clinical Practice
		References
	25: The Genetics of Mitral Valve Prolapse
		Introduction
		Clinical Presentation, Diagnostics, Complications, and Pathophysiology of Mitral Valve Disease
			Ventricular Arrhythmias and Sudden Cardiac Death in MVP
			Treatment of Ventricular Arrhythmias in MVP
		Genetic Aspects of Mitral Valve Disease
		Molecular Diagnostics
		Family Screening and Follow-Up in Relatives
		Summary
		References
	26: Induced Pluripotent Stem Cells
		Introduction
		iPS-CM Models of Inherited Cardiac Disease
			Cardiomyopathies
				Hypertrophic Cardiomyopathy
				Dilated Cardiomyopathy
				Arrhythmogenic Cardiomyopathy
				Noncompaction Cardiomyopathy
				Metabolic Cardiomyopathy
				Cardiac Amyloidosis
				Mitochondrial Cardiomyopathy
			Inherited Arrhythmia Syndromes
				Long QT Syndrome
				Catecholaminergic Polymorphic Ventricular Tachycardia
			Miscellaneous
				Congenital Heart Defects
				Syndromic
				Neuromuscular
				Other Diseases with Cardiac Traits
		Summary of the Cardiac Disease Models
		Advancing iPS-CM Disease Modeling
		Take Home Message
		References
	27: Prenatal Diagnosis and Preimplantation Genetic Testing for Inherited Cardiac Diseases
		Introduction
		Prenatal Diagnosis (PND)
		Preimplantation Genetic Testing (PGT)
		Noninvasive Prenatal Diagnosis (NIPD)
		PND and PGT for Inherited Cardiac Diseases
		Case
		In Summary
		References




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