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Title Clinical cardiogenetics / Hubert F. Baars, Pieter A.F.M. Doevendans, Arjan C. Houweling, J. Peter van Tintelen, editors
Edition Second edition
Published Cham : Springer, 2016
Online access available from:
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Description 1 online resource (391 pages)
Contents Preface; Contents; 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; Next-Generation Sequencing; 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; 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
Risk Stratification for SCD Genetics of HCM and Genetic Testing; Screening of Relatives: Genetic Counseling and Testing; 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; Screening of Relatives; Summary; References; 6: Arrhythmogenic Cardiomyopathy; Molecular and Genetic Background; Desmosomes and Other Intercalated Disc Structures
The Cardiogenetics Out-patient clinicReferences; Part II: Cardiomyopathies; 3: Introduction Hereditary Cardiomyopathies; Hypertrophic Cardiomyopathy; Dilated Cardiomyopathy; Arrhythmogenic Cardiomyopathy; Restrictive Cardiomyopathy; Non-compaction cardiomyopathy; References; 4: Hypertrophic Cardiomyopathy; Introduction; Diagnosis; Disease Presentation: Histopathology, the Cardiac Sarcomere, Pathophysiology, and Symptoms; Histopathology; The Cardiac Sarcomere and Pathophysiology; Symptoms; Clinical Management; Treatment of Symptoms and Prevention of Complications
Summary 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
Notes Print version record
Subject Cardiovascular system -- Diseases -- Genetic aspects.
Cardiovascular Diseases -- genetics.
Genetic Predisposition to Disease.
Form Electronic book
Author Baars, H. F.
Doevendans, Pieter A.
Houweling, Arjan C.
Tintelen, J. Peter van (Johannes Peter), 1964-
ISBN 9783319442037 (electronic bk.)
3319442031 (electronic bk.)