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 […]

Introduction Filamins interconnect actin filaments and form a broad network in cardiac and skeletal muscle cells by anchoring membrane proteins to the cytoskeleton. Filamin C, encoded by the FLNC gene, is one of three filamin-related proteins and binds to several proteins in the Z-disc of the sarcomere. Mutations in FLNC were initially associated with skeletal myofibrillar myopathy but are now recognized as associated with dilated and arrhythmogenic cardiomyopathy phenotypes, with autosomal dominant inheritance and an estimated penetrance of 92–97%, and […]

Introduction Sarcoidosis is a multisystem inflammatory granulomatous disease of unknown cause, related to genetic factors, with an incidence of 1 to 30 cases/100,000 people, and is more prevalent in women over 50 years of age. The formation of scar tissue characterizes it and can affect any organ, with a predilection for the lungs in approximately 90% of cases. Patients with cardiac involvement are mainly male and, in general, have a worse prognosis, with high mortality rates observed in this population […]

Abstract Background Few studies compared different sodium (Na) diets associated with high furosemide doses (FHD) and fluid intake restriction (FIR) on the PCWC in compensated heart failure (HF) patients. Objectives The study was aimed to verify FHD effects, 120 mmol/Na/day and FIR (1.000 ml day) vs FHD, FIR, and 80 mmol/Na/day on the PCWP, during 12 months of follow-up. Methods 289 patients with HF were randomized: Group A (n =146) received 120 mmol Na/day, FIR, and 125-250 mg bid of […]

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 Desmoplakin (DSP) is a pivotal component of the desmosome, a cell junction complex anchoring intermediate filaments. In the heart molecular architecture, desmosomes play a relevant role in cellular adhesion and force transducer through the myocardium. Mutations in the DSP gene cause distinct arrhythmogenic cardiomyopathy with myocardial injury, left ventricular fibrosis, further systolic dysfunction, and a high incidence of ventricular arrhythmias. We describe the clinical cases of three siblings with DSP cardiomyopathy diagnosed after the index patient had been referred […]

Abstract Background Functional classification is a critical predictor to establish a prognosis for heart failure (HF) and Coronary Artery Disease (CAD). However, recent research has questioned the reproducibility of the New York Heart Association (NYHA) and Canadian Cardiovascular Society (CCS) classifications, and their ability to discriminate patient prognosis at an individual level. Objective To investigate the discordance rate between the NYHA/CCS class assigned by the physician during outpatient consultation and the 6-minute walk test (6MWT) performance to refine the assessment […]

Abstract Background Heart failure (HF) is a clinical diagnosis of a condition that develops secondary to either left ventricular systolic or diastolic functions. Lately, inhibitors of sodium-glucose cotransporter 2 (SGLT2) have been added to the list of drugs used in the management of HF. Objectives To compare the efficacy of SGLT2 inhibitors to traditional treatment in hospitalization and death for HF. Methods Relevant databases were searched for articles published until October 2023. Out of 24 nonduplicated screened studies, 11 studies […]

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 […]

Abstract SARS-CoV-2 infection affects multiple organs and systems, including the cardiovascular system. Cardiovascular complications include myocarditis, pericarditis, acute coronary syndrome, acute heart failure (HF), pulmonary hypertension, right ventricular dysfunction, and arrhythmias. Inflammation is a mechanism that is present in both COVID-19 and HF. The mechanisms of myocardial injury due to COVID-19 include direct damage by the pathogen, hypoxemic stress, endothelial dysfunction with associated thromboembolic phenomena, and effects of systemic inflammatory syndrome. Impaired cardiopulmonary reserve makes patients with chronic HF more […]