Abstract Mechanical circulatory support (MCS) devices have evolved significantly over the past decades and play a vital role in managing end-stage heart failure, especially as a bridge to heart transplantation. From the pioneering heart-lung machines to third-generation ventricular assist devices (VADs), MCS technology has advanced to provide more durable, efficient, and safer options for both short- and long-term support. This review outlines the historical development of mechanical assist devices, the types of available supports – ranging from intra-aortic balloon pumps […]

Abstract Filamin C (FLNC) plays a critical role in maintaining the structural integrity of muscle cells, particularly within the cardiac sarcomere. Pathogenic variants in the FLNC gene are increasingly recognized as significant contributors to a diverse range of cardiomyopathies, including dilated (DCM), hypertrophic (HCM), arrhythmogenic (ACM), and restrictive cardiomyopathy (RCM). This review explores the genotype-phenotype correlations in FLNC-related cardiomyopathies, emphasizing how the type and location of genetic variants influence the clinical presentation. Truncating variants are primarily associated with DCM and […]

Abstract Cardiomyopathies are pathological conditions associated with progressive dysfunction of cardiomyocytes, excluding situations in which other concomitant diseases may justify such progression. Their presentations can evolve with several phenotypes, the main ones being hypertrophic, dilated, restrictive, non-compacted, and arrhythmogenic phenotypes of the right ventricle (). Regarding this topic’s relevance, dilated and hypertrophic cardiomyopathies have a genetic origin in 30 to 50% of cases, evaluating these etiologies is a crucial tool in patient management. Assessing the risk of genetic transmission and […]

Abstract The MYH7 gene, which encodes the beta-myosin heavy chain, is a critical component in the structural and functional integrity of cardiac and skeletal muscle cells. Variants in MYH7 are among the most common genetic causes of cardiomyopathies, particularly hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), and have also been implicated in restrictive cardiomyopathy (RCM) and left ventricular hypertrabeculation (LVHT). This review explores the molecular mechanisms by which MYH7 variants lead to these diverse phenotypes, focusing on the genotype-phenotype correlations […]

Abstract The treatment of heart failure with preserved ejection fraction (HFpEF) has always represented a challenge in clinical management. The discovery of sodium-glucose cotransporter 2 inhibitors (SGLT2i) as efficient cardiac protectors brought the possibility of treating HFpEF, a topic driven by robust studies such as EMPEROR-Preserved and DELIVER. The present work aims to identify the main studies on SGLT2i and primary outcomes in HFpEF. The qualified search was carried out in the BVS and Pubmed indexed databases, with the inclusion […]

Abstract Heart failure (HF) is characterized as a clinical syndrome comprised of different etiologies. HF can be classified according to the left ventricular ejection fraction (LVEF) in heart failure with preserved ejection fraction (HFpEF) and heart failure with reduced ejection fraction (HFrEF). Studies have shown that sodium-glucose cotransporter2 (SGLT2) inhibitors can collaborate in the treatment of HF. To conduct a bibliographic survey in the form of an integrative qualitative review on the use of SGLT2 inhibitors in the treatment of […]

Abstract Alpha-protein kinase 3 (ALPK3) variants, particularly truncating mutations (ALPK3tv), have been associated with both hypertrophic cardiomyopathy (HCM) and dilated cardiomyopathy (DCM), contributing to phenotypic variability and severe clinical outcomes. HCM is characterized by left ventricular hypertrophy (LVH) not attributable to other causes and is a common genetic disorder, often linked to pathogenic variants in sarcomeric genes. However, clinical genetic testing fails to identify a causative mutation in approximately 40% of the cases, suggesting the involvement of non-sarcomeric genes such […]

Abstract Danon disease is a rare genetic disorder associated with mutations in the LAMP2 gene, located on the X chromosome, which encodes the LAMP2 protein that is essential for autophagy. The disease is characterized by a triad of cardiomyopathy, skeletal myopathy, and intellectual disability, with clinical manifestations that vary between the sexes. Men generally present with more severe and earlier forms, with hypertrophic cardiomyopathy and arrhythmias, whereas women present with later progression and less homogeneous symptoms. To illustrate the wide […]

Abstract Chronic obstructive pulmonary disease (COPD) is a lung disease that often has an indolent course and systemic repercussions. Its main cause is constant and prolonged exposure to cigarette smoke or other gases. Such particles lead to reduced airflow and consequent lung hyperinflation with varying degrees of airway obstruction, also causing skeletal muscle dysfunction, respiratory failure, and decreased peripheral blood flow. COPD patients with concomitant cardiovascular disease (CVD) have a worse prognosis than simply the prognosis of each disease alone. […]

Abstract Heart failure is a highly prevalent syndrome worldwide, including in Latin America, where prevalence rates are estimated at 1.2% to 2.1% of the population. This reality is no different in Brazil, where the syndrome is estimated to affect approximately 2% of the adult population, leading to an overwhelming financial impact of approximately 28.1 billion Brazilian reals in 2015 alone, when the total costs to society and the health system were measured. As if the broad economic impact were not […]