Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders

Description

Emery and Rimoin’s Principles and Practice of Medical Genetics and Genomics: Cardiovascular, Respiratory, and Gastrointestinal Disorders, Seventh Edition includes the latest information on seminal topics such as prenatal diagnosis, genome and exome sequencing, public health genetics, genetic counseling, and management and treatment strategies. This comprehensive, yet practical, resource emphasizes theory and research fundamentals relating to applications of medical genetics across the full spectrum of inherited disorders and applications to medicine. Updated sections in this release cover the genetics of cardiovascular, respiratory and gastrointestinal disorders, with an emphasis on genetic determinants and new pathways for diagnosis, prevention and disease management. In addition, genetic researchers, students and health professionals will find new and fully revised chapters on the molecular genetics of congenital heart defects, inherited cardiomyopathies, hypertension, cystic fibrosis, asthma, hereditary pulmonary emphysema, inflammatory bowel disease, and bile pigment metabolism disorders among other conditions. Offers pathways for diagnosis, prevention and disease managementIncludes color images supporting identification, concept illustration and method processingFeatures contributions by leading international researchers and practitioners of medical genetics Cover EMERY AND RIMOIN’S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS Copyright LIST OF CONTRIBUTORS PREFACE TO THE SEVENTH EDITION OF EMERY AND RIMOIN’S PRINCIPLES AND PRACTICE OF MEDICAL GENETICS AND GENOMICS PREFACE TO CARDIOVASCULAR, RESPIRATORY, AND GASTROINTESTINAL DISORDERS Section 1: Cardiovascular Disorders 1 - Congenital Heart Defects 1.1 Introduction 1.2 The Evaluation of the Patient With Congenital Heart Defect 1.3 Embryology 1.4 Specific Syndromes With Congenital Heart Defect 1.4.1 Chromosomal Disorders 1.4.1.1 Trisomy 21 (Down Syndrome) 1.4.1.2 Trisomy 18 (Edwards Syndrome) 1.4.1.3 Trisomy 13 (Patau Syndrome) 1.4.1.4 Turner Syndrome (Ulrich–Turner Syndrome) 1.4.2 Microdeletions/Microduplication Syndromes 1.4.2.1 22q11 Deletion Syndrome 1.4.2.2 Williams Syndrome 1.4.2.3 Alagille Syndrome 1.4.3 Single-Gene Disorders 1.4.3.1 Noonan Syndrome 1.4.3.2 Holt–Oram Syndrome 1.4.3.3 CHARGE Syndrome 1.4.4 Heart Malformation and Metabolic Disorders 1.4.4.1 Zellweger Syndrome 1.4.4.2 Smith–Lemli–Opitz Syndrome 1.5 Genes Responsible for Congenital Heart Malformations as Monogenic Traits 1.6 Environmental Causes and the Teratogen Syndromes 1.7 Maternal Diabetes 1.8 Maternal Cigarette Smoking 1.9 Maternal Drug Ingestion 1.9.1 Alcohol 1.9.2 Cocaine 1.9.3 Lithium 1.9.4 Maternal Phenylketonuria 1.10 Folic Acid Supplementation 1.11 The Adult With Congenital Heart Defect 1.12 Empirical Risks for Offspring 1.13 Future Developments Appendix 1 Appendix 2 Appendix 3 Appendix 4 Appendix 5 Appendix 6 Appendix 7 Appendix 8 Appendix 9 Appendix 10 Appendix 11 Appendix 12 Appendix 13: Syndromes Tetralogy Further Reading 2 - Genetic Cardiomyopathies 2.1 Introduction 2.2 Hypertrophic Cardiomyopathy 2.2.1 Prevalence 2.2.2 Pathology 2.2.3 Phenotype 2.2.4 Natural History 2.2.5 Diagnosis 2.2.6 Management 2.2.7 Genetics 2.2.7.1 Cardiac Myosin Binding Protein C 2.2.7.2 Cardiac β-Myosin Heavy Chain (MYH7) 2.2.7.3 Cardiac Troponin I (TNNI3) 2.2.7.4 Cardiac Troponin T (TNNT2) 2.2.7.5 α-Tropomyosin (TPM1) 2.2.7.6 Myosin Light Chains 2.2.7.7 α-Cardiac Actin (ACTC1) 2.2.7.8 Putative HCM Genes 2.2.8 Molecular and Experimental Models of HCM 2.2.8.1 Interacting Heads Motif Disruption 2.2.8.2 Calcium Dysregulation 2.2.8.3 Energy Compromise 2.2.9 Genetic Phenocopies of Hypertrophic Cardiomyopathy 2.2.9.1 AMPK Dysfunction 2.2.9.2 Fabry Disease 2.2.9.3 Danon Disease 2.3 Dilated Cardiomyopathy 2.3.1 Prevalence 2.3.2 Pathology 2.3.3 Phenotype 2.3.4 Natural History 2.3.5 Diagnosis 2.3.6 Management 2.3.7 Genetics 2.3.7.1 Sarcomere Mutations in DCM 2.3.7.1.2 Troponin–tropomyosin complex. Pathogenic and likely pathogenic variants in α-tropomyosin (TPM1,