| Description |
1 online resource : illustrations |
| Contents |
Intro -- 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 |
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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 |
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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 |
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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 |
| Summary |
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 |
| Bibliography |
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 |
| Subject |
Cardiovascular system -- Diseases -- Genetic aspects
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Cardiology.
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Medical genetics.
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Cardiovascular Diseases -- genetics
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Cardiology
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Genetic Predisposition to Disease
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Genetics, Medical
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Medical genetics.
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Cardiovascular medicine.
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Medical -- Genetics.
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Medical -- Cardiology.
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Cardiovascular system -- Diseases -- Genetic aspects
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| Form |
Electronic book
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| Author |
Baars, H. F
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Doevendans, Pieter A
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Houweling, Arjan C
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Tintelen, J. Peter van (Johannes Peter), 1964-
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| ISBN |
9783030454579 |
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3030454576 |
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