The field of cardiovascular genetics has tremendously benefited from the recent application of massive parallel sequencing technology also referred to as next generation sequencing (NGS). However, along with the discovery of additional genes associated with human cardiac diseases, the analysis of large dataset of genetic information uncovered a much more complex and variegated landscape, which often departs from the comfort zone of the monogenic Mendelian diseases image that clinical molecular geneticists have been well acquainted with for many decades. It is now clear that, in addition to highly penetrant genetic variants, which in isolation are able to recapitulate the full clinical presentation when expressed in animal models, we are now aware that a small but significant fraction of subjects presenting with cardiac muscle diseases such as cardiomyopathies or primary arrhythmias such as long QT syndrome (LQTS), may harbor at least two deleterious variants in the same gene (compound heterozygous) or in different gene (double heterozygous). Although the clinical presentation in subjects with more than one deleterious variant appears to be more severe and with an earlier disease onset, it somehow changes the viewpoint of clinical molecular geneticists whose aim is to identify all possible genetic contributors to a human condition. In this light, the employment in clinical diagnostics of the NGS technology, allowing the simultaneous interrogation of a DNA target spanning from large panel of genes up to the entire genome, will definitely aid at uncovering all such contributors, which will have to be tested functionally to confirm their role in human cardiac conditions. The uncovering of all clinically relevant deleterious changes associated with a cardiovascular disease would probably increase our understanding of the clinical variability commonly occurring among affected family relatives, and potentially provide with unexpected therapeutic targets for the treatment of symptoms related to the presence of “accessory” deleterious genetic variants other than the key molecular culprit. The objective of this Research Topic is to explore the current challenges presenting to the cardiovascular genetics providers, such as clinical geneticists, genetic counselors, clinical molecular geneticists and molecular pathologists involved in the diagnosis, counseling, testing and interpretation of genetic tests results for the comprehensive management of patients affected by cardiovascular genetic disorders.

Consisting of contributions from experts in all specialties of cardiovascular genetics and applied clinical cardiology, Principles and Practice of Clinical Cardiovascular Genetics serves as the comprehensive volume for any clinician or resident in cardiology and genetics. Each chapter provides a detailed and comprehensive account on the molecular genetics and clinical practice related to specific disorders or groups of disorders, including Marfan syndrome, thoracic and abdominal aortic aneurysms, hypertrophic, dilated and restrictive cardiomyopathies and Arrhythmogenic right ventricular cardiomyopathy, as well as many others. All sections comprehensively address cardiovasuclar genetic disorders, beginning with an introduction and including separate sections on the disease's basic biological aspects, specific genetic mechanisms or issues, clinical aspects, genetic management (e.g., genetic diagnosis, risk assessment, genetic counseling, genetic testing), and clinical management issues. The final section exclusively addresses the management of cardiovascular genetic disorders, specifically considering stem cell therapy, genetic counseling, pharmacogenomics and the social and ethical issues surrounding disease treatment.

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First multi-year cumulation covers six years: 1965-70.

By integrating technology, supporting infrastructure and efficient application, the all-in-one guide presents molecular diagnostics as an essential component of modern, personalized clinical practice. It considers all important aspects, from the hardware and software needed, to recent improvements in blood- and non-blood-based biomarker tests. Chapters on ethical challenges and a look at current trends and the latest innovations are also included. Bridging the gap between industry and academia, this is a highly useful resource for practitioners as well as for developers of modern, DNA- and RNA-based molecular diagnostics.

Metabolic Phenotyping in Personalized and Public Healthcare provides information on the widespread recognition that a personalized or stratified approach to patient treatment may offer a more efficient and effective healthcare solution than phenotype-led approaches.In order to achieve that objective, a deep personal description is required at the level of the genome, proteome, metabolome, or preferably a combination of these aided by technology. This book, edited and written by the outstanding luminaries of this evolving field, evaluates metabolic profiling and its uses across personalized and population healthcare, while also covering the advent of new technology fields, such as surgical metabonomics. In addition, the text presents specific examples of where this technology has been used clinically and with efficacy, pointing towards a framework and protocol for usage as it hits the clinical mainstream. - Translates the conjunction of new surgical tools for intraoperative, real-time, metabolite evaluation and direct analysis of biofluid samples into novel options for augmented clinical decision-making - Discusses longitudinal sampling from individual patients for stratified medicine - Covers high resolution analytical spectroscopy and sophisticated computational modelling for prediction of adverse reactions in critical care scenarios, prognostic evaluation of cancer from biofluidism, and prognostic prediction of metabolism or response of patients to pharmaceutical interventions - Encapsulates recent technology options for broader population profiling considerations, in particular, the metabolome-wide association studies (MWAS) that aid the translational researcher in identifying metabolic patterns associated with disease - Foreword written by Professor Dame Sally Davies who is the Chief Medical Officer for England

This book covers the discovery of molecular biomarkers, the development of laboratory testing techniques and their clinical applications, focusing on basic research to clinical practice. It introduces new and crucial knowledge and ethics of clinical molecular diagnosis. This book emphasizes the applications of clinical molecular diagnostic test on health management, especially from different diseased organs. It lets readers to understand and realize precision healthcare.

This is the first book to focus entirely on the role of pathology in cardiac transplantation, linked to the clinical perspective through clinical–pathological correlation, multidisciplinary team working, and collaborative research. It provides a scientific framework with up-to-date pathological protocols and classification schemes and guides the reader through the chronological phases of the transplant process in a step-by-step approach. Topics include end-stage heart failure with pathologies encountered in the native heart, current issues surrounding donor selection, the multiple faces of rejection pathology correlated with clinical management and immunology, other post-transplant complications, details of pediatric and combined heart/other organ transplantation, and a useful practical appendix. Many high-quality images and illustrative cases are presented, along with learning points and ample references. Transplantation medicine today is continuously changing as collaborative research into novel diagnostic techniques and immunosuppressive therapies translates into improved recipient management and survival. This book is aimed at practicing transplant pathologists and specialist trainees. It will also appeal to general pathologists and to physicians and surgeons involved in cardiac transplantation who need to understand the role of pathology in the clinical management of transplant recipients.