Abstract The era of personalized medicine emphasizes the provision of health care guided by the cardiomyopathy phenotypes described, their interpretation based on genotype, and genetic counseling. The identification of high-risk cardiomyopathy subtypes and the diagnosis of rare etiologies with potential therapies cannot be neglected. Genetic sequencing of these patients, in addition to advances in cardiac imaging techniques, has indicated a new perspective for these concepts, and consequently possible new classifications of cardiomyopathies and new clinical practices. The interaction between multidisciplinary […]

Definition Cardiomyopathies (CMPs) are a group of diseases with multiple etiologies and heterogeneous phenotypes, ranging from microscopic changes in cardiomyocytes in asymptomatic patients to cases of fulminant heart failure with fluid retention, and perfusion and heart rhythm changes. A CMP was initially defined as a heart muscle disease caused by genetic defects, myocyte injury or myocardial infiltration, and characterized by structural and functional abnormalities in the absence of congenital disease, valvular disease or hypertension. The initial approach of patients with […]

Introduction Twenty years ago, the Human Genome Project made history by announcing the sequencing of 92% of the human genome through the development of modern genetic sequencing techniques. In 2022, the complete sequencing of human DNA was announced. This knowledge made it possible to better understand how genetics influences the functioning of the human body and, at the same time, facilitated the identification of genetic variants that can cause diseases. In the field of cardiology, genetic study assists the assessment […]

The interest in myocardial damage is very old, but only in recent decades has there been a reasonable advance in greater knowledge thereof. Ancient peoples were limited to rudimentary observations on the morphology and physiology of the circulatory system, but with special interest directed to the heart. Texts in cuneiform scripts from Sumer, considered the first civilization in human history; others from the Library of Ashurbanipal, with inscriptions on clay tiles, discovered intact under the sands at Nineveh; Egyptian hieroglyphs […]

Introduction Etiological identification of young patients with heart failure should always be a medical goal. In this scenario, infectious myocarditis is a possible diagnosis and, when it occurs, it has a benign course in the majority of cases. However, congenital heart diseases or familial forms of cardiomyopathy should be considered in differential diagnosis and/or concomitantly, particularly in more severe presentations of myocarditis. In these cases, in addition to specific investigation for myocarditis, which may include clinical evaluation, imaging exams, laboratory […]