The Era of Personalized Medicine in Cardiomyopathies

Abstract

Learning about cardiomyopathies has become more in-depth in recent years. Thus, several views of specialists from Brazil are present in this edition of ABC Heart Failure & Cardiomyopathy, of the ABC Family of Arquivos Brasileiros de Cardiologia (ABC Cardiol), from the most common etiologies to the rarest and ultra-rare ones, with their systemic repercussions, including toxic, genetic, peripartum, stress, diabetes, collagenosis, cardiogenetic interaction, as well as a vision of the future with artificial intelligence and 3D printing in cardiomyopathies. Advances in imaging such as coronary computed tomography angiography in the non-invasive diagnosis of coronary artery disease, magnetic resonance imaging and its various specific evaluations of cardiomyopathies, nuclear medicine in microvascular disease and non-invasive diagnosis of transthyretin amyloidosis, and genetic tests have facilitated the recognition of different phenotypes. Moreover, based on the genotype of a given case, an entire family can also be identified related to preexisting clinical syndromes. Interaction between specialties and heart teams have improved care, disease management, and assistance of affected families. Accordingly, follow-up with a geneticist and genetic counseling are imperative in the era of personalized medicine. Genetic sequencing of patients in the context of advances in cardiac imaging has indicated a new perspective for these concepts. The “MOGES” classification of cardiomyopathies, since 2014, has emphasized extracardiac manifestations, familial inheritance pattern, and genetic etiology.1 Recent clinical studies have described cohorts with specific variants that show subtypes of different phenotypes. Indeed, in the coming years, new classifications of cardiomyopathies and clinical conduct are plausible. Follow-up by multidisciplinary teams specializing in cardiogenetics demonstrates better communication and management of variants of uncertain significance that may be relevant in the clinical expression of cardiomyopathies and may reclassify them. Furthermore, today we can rely on in vitro techniques with targeted gene identification to assist families with variants.2-5 Genetics is a useful tool in diagnosis, risk stratification, and family management. Currently, there are guidelines with wellestablished recommendations regarding the application of