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ویرایش: 3 نویسندگان: Hubert F. Baars, Pieter A. F. M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen 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
در صورت تبدیل فایل کتاب Clinical Cardiogenetics به فرمت های PDF، EPUB، AZW3، MOBI و یا DJVU می توانید به پشتیبان اطلاع دهید تا فایل مورد نظر را تبدیل نمایند.
توجه داشته باشید کتاب کاردیوژنتیک بالینی نسخه زبان اصلی می باشد و کتاب ترجمه شده به فارسی نمی باشد. وبسایت اینترنشنال لایبرری ارائه دهنده کتاب های زبان اصلی می باشد و هیچ گونه کتاب ترجمه شده یا نوشته شده به فارسی را ارائه نمی دهد.
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
02
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
02
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
02
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.
19
02
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
06
05
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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