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.

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.

Cellular and Molecular Pathobiology of Cardiovascular Disease focuses on the pathophysiology of common cardiovascular disease in the context of its underlying mechanisms and molecular biology. This book has been developed from the editors' experiences teaching an advanced cardiovascular pathology course for PhD trainees in the biomedical sciences, and trainees in cardiology, pathology, public health, and veterinary medicine. No other single text-reference combines clinical cardiology and cardiovascular pathology with enough molecular content for graduate students in both biomedical research and clinical departments. The text is complemented and supported by a rich variety of photomicrographs, diagrams of molecular relationships, and tables. It is uniquely useful to a wide audience of graduate students and post-doctoral fellows in areas from pathology to physiology, genetics, pharmacology, and more, as well as medical residents in pathology, laboratory medicine, internal medicine, cardiovascular surgery, and cardiology. - Explains how to identify cardiovascular pathologies and compare with normal physiology to aid research - Gives concise explanations of key issues and background reading suggestions - Covers molecular bases of diseases for better understanding of molecular events that precede or accompany the development of pathology

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

Clearly presents the pathology of heart disease from fetus to adolescence, integrating histology and macroscopy with effects of treatment.

Neuromuscular disorders are diagnosed across the lifespan and create many challenges especially with infants, children and adolescents. This new edition of the definitive reference, edited by the established world renowned authorities on the science, diagnosis and treatment of neuromuscular disorders in childhood is a timely and needed resource for all clinicians and researchers studying neuromuscular disorders, especially in childhood. The Second Edition is completely revised to remain current with advances in the field and to insure this remains the standard reference for clinical neurologists and clinical research neurologists. The Second Edition retains comprehensive coverage while shortening the total chapter count to be an even more manageable and effective reference. - Carefully revised new edition of the classic reference on neuromuscular disorders in infancy, childhood and adolescence. - Definitive coverage of the basic science of neuromuscular disease and the latest diagnosis and treatment best practices. - Includes coverage of clinical phenomenology, electrophysiology, histopathology, molecular genetics and protein chemistry

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.

The 2nd Edition of Metabolic Diseases provides readers with a completely updated description of the Foundations of Clinical Management, Genetics, and Pathology. A distinguished group of 31 expert authors has contributed 25 chapters as a tribute to Enid Gilbert-Barness and the late Lewis Barness--- both pioneers in this topic. Enid’s unique perspectives on the pathology of genetic disorders and Lew’s unsurpassed knowledge of metabolism integrated with nutrition have inspired the contributors to write interdisciplinary descriptions of generally rare, and always challenging, hereditary metabolic disorders. Discussions of these interesting genetic disorders are organized in the perspective of molecular abnormalities leading to morphologic disturbances with distinct pathology and clinical manifestations. The book emphasizes recent advances such as development of improved diagnostic methods and discovery of new, more effective therapies for many of the diseases. It includes optimal strategies for diagnosis and information on access to specialized laboratories for specific testing. The target audience is a wide variety of clinicians, including pediatricians, neonatologists, obstetricians, maternal-fetal specialists, internists, pathologists, geneticists, and laboratorians engaged in prenatal and/or neonatal screening. In addition, all scientists and health science professionals interested in metabolic diseases will find the comprehensive, integrated chapters informative on the latest discoveries. It is our hope that the 2nd Edition will open new avenues and vistas for our readers and that they will share with us the interest, excitement and passion of the research into all these challenging disorders.

Diagnostic Molecular Pathology: A Guide to Applied Molecular Testing, Second Edition assembles a group of experts to discuss the molecular basis and mechanisms of major human diseases and disease processes and how the molecular features of disease can be harnessed to develop practical molecular tests for disease detection, diagnosis and prognosis. The book explains how molecular tests are utilized in the treatment of patients in personalized medicine, highlights new technologies and approaches of applied molecular pathology, and discusses how this discovery-based research yields new and useful biomarkers and tests. As it is essential to stay up-to-date on new molecular diagnostics in this changing field, this book covers critically important areas in the practice of personalized medicine and reflects our understanding of the pathology, pathogenesis and pathophysiology of human disease. - Includes new material on mass spectrometry for infectious diseases, microbiome, homology-directed repair for PARPi, whole genome sequencing for constitutional testing, and much more - Provides insights on the value of the molecular test in comparison to traditional methods, which include speed, precision, sensitivity and clinical impacts for the patient - Focuses on the menu of molecular diagnostic tests available in modern molecular pathology or clinical laboratories that can be applied to disease detection, diagnosis and classification in the clinical workup of a patient - Explains how molecular tests are utilized to guide the treatment of patients in personalized medicine (guided therapies) and for the prognostication of disease