دانلود کتاب کاردیومیوپاتی‌ها در عمل: از فنوتایپینگ عمیق تا پزشکی دقیق

The approach to cardiomyopathies has deeply evolved over the past decades, moving from a diagnostic framework largely based on clinical evaluation and conventional imaging to a more integrated approach that incorporates advanced imaging and genetics. Despite these advances, the classification of cardiomyopathies remains fundamentally phenotype-based, encompassing dilated cardiomyopathy (DCM), non-dilated left ventricular cardiomyopathy (NDLVC), hypertrophic cardiomyopathy (HCM), arrhythmogenic right ventricular cardiomyopathy (ARVC), restrictive cardiomyopathy (RCM), and related forms. However, phenotype represents the starting point rather than the destination of the diagnostic process; in this perspective, the purpose of this book is to guide the reader through this evolving framework, drawing on the experience of the Trieste Cardiomyopathy Registry, which has collected more than 3600 cases of cardiomyopathies (Fig. 1.1), with systematic data acquisition and prolonged longitudinal follow-up. Over the years, the Registry has provided a solid clinical and research platform, contributing meaningful insights into disease evolution, risk stratification, and patient management, while maintaining a rigorous and methodologically sound approach. Building upon the most recent classifications and 2023 ESC guidelines and integrating clinical experience with current scientific evidence, it aims to provide a comprehensive approach to cardiomyopathies. Despite the remarkable technological progress represented by CMR and genetic testing, the diagnostic journey still begins where medicine has always begun with a careful anamnesis and a solid clinical assessment. The first and most crucial diagnostic tool remains the patient’s history. A detailed personal and family history provides the foundation upon which every subsequent investigation is built. Symptoms such as dyspnea, palpitations, syncope, or reduced exercise tolerance must be interpreted within a broader context that includes familial patterns, premature sudden cardiac death, heart failure of unclear origin, or relatives with implantable devices, especially at a young age. Clinical evaluation flows naturally from anamnesis with a red-flags approach (the so-called “cardiomyopathy mindset”). Attention should also be paid to extracardiac signs, such as skeletal muscle involvement or systemic features, which may suggest a syndromic or specific inherited form of cardiomyopathies. Importantly, the clinician’s role at this stage is not to confirm the disease but to recognize those elements that justify further investigation. Cardiomyopathies often reveal themselves gradually, and early signs may be understated. The ability to identify these early signals remains central to modern practice, both for patients and for family members. ECG and echocardiography represent the first-line instrumental extensions of clinical evaluation. They are accessible, noninvasive, and highly informative. Historically, these two tools formed the backbone of diagnosis; however, the introduction of CMR has significantly expanded diagnostic capabilities. CMR offers superior morphological definition and, more importantly, tissue characterization. The possibility of identifying myocardial fibrosis or subtle structural abnormalities has increased diagnostic sensitivity, allowing recognition of disease even when ECG and echocardiography are normal. In some cases, CMR reveals myocardial “scar” in patients who would previously not have fulfilled criteria for cardiomyopathy. While this has refined our understanding of disease spectrum and improved risk stratification, it also requires careful interpretation to avoid overdiagnosis or misclassification of clinically borderline findings. Parallel to imaging advancements, genetics has profoundly transformed the conceptual framework of cardiomyopathies. The identification of pathogenic variants can clarify etiology, confirm the diagnosis, refine risk stratification, guide decisions regarding sports eligibility, and enable cascade family screening. In selected conditions, it may also have therapeutic implications, and its role is expected to expand further in the next future with the development of targeted and gene-based therapies. Nevertheless, genetics is not merely a confirmatory instrument and may introduce complexity, particularly when variants of uncertain significance are identified or in specific gene-elusive patients with overt phenotype of cardiomyopathy. Such findings can generate uncertainty and require careful interpretation within the broader clinical and imaging context. Thus, although genetics and CMR have undeniably strengthened our diagnostic armamentarium, enhancing sensitivity and etiological definition, they complement rather than replace the fundamental steps of anamnesis, clinical reasoning, ECG, and echocardiography. Within this integrated framework, the management of cardiomyopathy extends beyond the individual diagnosis to include structured evaluation and longitudinal follow-up of the entire family. Nevertheless, important challenges persist. The optimal management of genotypepositive but phenotype-negative individuals remains unresolved, particularly regarding risk stratification and therapeutic decisions. Likewise, patients with a definite clinical phenotype but no identifiable pathogenic variant—the so-called gene-elusive cases—expose the current limits of genetic testing. Emerging approaches, including polygenic risk scores and other advanced genomic technologies, may further refine etiological classification and support more personalized treatment strategies. Finally, the deep-phenotyping process of all patients with cardiomyopathies, across the entire spectrum of clinical phenotypes, may increasingly benefit from artificial intelligence soon. A more personalized classification and management strategy supported by artificial intelligence represents an important horizon, although it is not yet fully applicable in everyday clinical practice. For this reason, comprehensive clinical evaluation remains the cornerstone in the management of these complex patients and their families. This book aims to accompany the reader through this evolving landscape. Starting from the most recent disease classifications and the latest ESC guidelines, it seeks to integrate scientific evidence, advanced imaging, and genetic insights with consolidated clinical experience.