Genetic Cardiomyopathies

Download or read book Dilated Cardiomyopathy written by Gianfranco Sinagra and published by Springer. This book was released on 2019-05-17 with total page 239 pages. Available in PDF, EPUB and Kindle. Book excerpt: This open access book presents a comprehensive overview of dilated cardiomyopathy, providing readers with practical guidelines for its clinical management. The first part of the book analyzes in detail the disease’s pathophysiology, its diagnostic work up as well as the prognostic stratification, and illustrates the role of genetics and gene-environment interaction. The second part presents current and future treatment options, highlighting the importance of long-term and individualized treatments and follow-up. Furthermore, it discusses open issues, such as the apparent healing phenomenon, the early prognosis of arrhythmic events or the use of genetic testing in clinical practice. Offering a multidisciplinary approach for optimizing the clinical management of DCM, this book is an invaluable aid not only for the clinical cardiologists, but for all physicians involved in the care of this challenging disease.

Download or read book Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics written by Reed E. Pyeritz and published by Academic Press. This book was released on 2022-08-26 with total page 384 pages. Available in PDF, EPUB and Kindle. Book excerpt: Emery and Rimoin's Principles and Practice of Medical Genetics and Genomics: Hematologic, Renal, and Immunologic Disorders, Seventh Edition thoroughly examines medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these conditions, diagnostic approaches, and treatment methods. Here, genetic researchers, students and health professionals will find new and fully revised chapters on the genetics of red blood cell diseases, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, and diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions. With regular advances in genomic technologies propelling precision medicine into the clinic, this book, which has served as the ultimate resource for clinicians integrating genetics into medical practice, continues to provide the most important information. With nearly 5,000 pages of detailed coverage, contributions from over 250 of the world's most trusted authorities in medical genetics, and a series of 11 volumes available for individual sale, this updated 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. - Fully addresses medical genetics and genomics as applied to hematologic, immunologic and endocrinologic disorders, with an emphasis on understanding the genetic mechanisms underlying these disorders, diagnostic approaches and treatment methods - Provides genetic researchers, students and health professionals with new and updated chapters on the genetic basis of, and treatment pathways for, red blood cell disorders, rhesus and other fetomaternal incompatibilities, immunodeficiency disorders, inherited complement deficiencies, celiac disease, diabetes mellitus, as well as thyroid, parathyroid and gonad disorders, among other conditions - Includes color images supporting identification, concept illustration and method processing - Features contributions by leading international researchers and practitioners of medical genetics - Includes a robust companion website that offers lecture slides, image banks and links to outside resources and articles to help readers stay up-to-date on the latest developments in the field

Download or read book Diagnosis and Management of Hypertrophic Cardiomyopathy written by Barry J. Maron and published by John Wiley & Sons. This book was released on 2008-04-15 with total page 527 pages. Available in PDF, EPUB and Kindle. Book excerpt: Diagnosis and Management of Hypertrophic Cardiomyopathy is aunique, multi-authored compendium of information regarding thecomplexities of clinical and genetic diagnosis, natural history,and management of hypertrophic cardiomyopathy (HCM)—the mostcommon and important of the genetic cardiovasculardiseases—as well as related issues impacting the health oftrained athletes. Edited by Dr. Barry J. Maron, a world authority on HCM, and withmajor contributions from all of the international experts in thisfield, this book provides a single comprehensive source ofinformation concerning HCM. Recent advances in the field arediscussed, including the importance of left ventricular outflowtract obstruction, the use of implantable defibrillators for theprevention of sudden death in young people, definition of thegenetic basis for HCM and its role in clinical diagnosis and riskstratification, the development of more precise strategies forassessing the level of risk for sudden death among all patientswith HCM, and the evolution of invasive interventions for heartfailure symptoms, such as surgical management and its alternatives(alcohol septal ablation and dual-chamber pacing). Key Features: Contributions from all experts in the field,representing diverse viewpoints regarding this heterogeneousdisease and related issues in athletes Information to dispel misunderstandings regarding issuesassociated with HCM and cardiovascular disease in athletes The only comprehensive source of information available on thetopic

Download or read book Cardiomyopathy written by Gustav Mattsson and published by . This book was released on 2021 with total page 0 pages. Available in PDF, EPUB and Kindle. Book excerpt: Cardiomyopathies are diseases of the heart muscle with diverse etiologies ranging from myocarditis to gene mutations. They are classified according to morphology and function, and then further categorized based on whether they are familial or non-familial and based on specific etiologies. This book examines the various cardiomyopathies, including arrhythmogenic cardiomyopathy, hypertrophic cardiomyopathy, and dilated cardiomyopathy, as well as their genetic basis.

Download or read book Genetic Cardiomyopathies written by Gianfranco Sinagra and published by Springer Science & Business Media. This book was released on 2012-12-09 with total page 170 pages. Available in PDF, EPUB and Kindle. Book excerpt: In the last decade, genetics has been emerging as a primary issue in the diagnosis and management of cardiomyopathies. This book is intended to be a state-of-the-art monograph on these diseases, describing their genetic causes, defining the molecular basis and presenting extensive descriptions of genotype–phenotype correlations. Other chapters are focused on the role of clinical observation, on ECG and echocardiography. With its highlight on the most recent discoveries in the field of molecular genetics as well as on the correct clinical approach to patients with heart muscle disease, the book is aimed at physicians and clinical cardiologists with a particular interest in myocardial diseases and in their genetic causes.

Download or read book Clinical Cardiogenetics written by H.F. Baars and published by Springer Science & Business Media. This book was released on 2010-12-25 with total page 453 pages. Available in PDF, EPUB and Kindle. Book excerpt: Clinical management and signs are 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?

Download or read book Genetic Causes of Cardiac Disease written by Jeanette Erdmann and published by Springer Nature. This book was released on 2019-11-27 with total page 407 pages. Available in PDF, EPUB and Kindle. Book excerpt: This book provides a comprehensive summary of the latest developments in the field of the genomics of cardiac disease. Written and edited by leading clinicians and scientists involved in the analysis and therapy of genetic cardiac disorders, it discusses the genetic causes of a variety of cardiac diseases, such as the complex genetics and etiology of congenital heart diseases. It also explores sex differences in prevalent diseases, genetics-based therapeutic strategies and the use of various animal models and alternatives. The book is intended for research scientists and clinical scientists in the cardiovascular field, human geneticists and cardiologists.