Introdução Danon disease (DD) is a rare, dominant X-linked disease caused by mutation of the LAMP2 gene, which encodes a lysosome-associated membrane glycoprotein, thereby affecting lysosomal deposition. DD is characterized by a classic triad of cardiomyopathy (featured by hypertrophic cardiomyopathy [HC]), skeletal myopathy, and cognitive changes. While female patients tend to have milder phenotypic manifestations, an isolated cardiac involvement, in addition to a later onset of symptoms, without the need for heart transplantation before the fourth decade of life, male […]

Abstract Sports competition can be a trigger to fatal arrhythmias in predisposed individuals, leading to sudden cardiac death. Athletes have 2.8 fold more risk of sudden cardiac death than non-athletes. However, female athletes seem to have some cardiac protection, dying suddenly much less than men during sports. Although the mechanisms for this protection have not been well established until now, hormonal, genetic and molecular factors may play a role in it. The so-called “fair sex” might harbour the key for […]

Background: Galectin-3 is the designation given to the protein that binds to ß-galactosides, expressed by activated macrophages and described as a cardiac fibrosis mediator. In hypertrophic cardiomyopathy (HCM), myocardial fibrosis is an independent predictor of adverse outcome; however, the association between Galectin-3 and myocardial fibrosis has not been studied in this cardiopathy. Objective: To evaluate the association of Galectin-3 and the presence of myocardial fibrosis in a patient with hypertrophic cardiomyopathy. Methods: Galectin-3 was measured in automated equipment using the […]

Introdução A cardiomiopatia hipertrófica (CMH) é uma doença intrínseca do miocárdio caracterizada por hipertrofia cardíaca (espessura da parede ≥ 15 mm), não causada por sobrecarga de pressão (p.ex. hipertensão, estenose aórtica grave). A CMH é a cardiomiopatia primária genética mais comum, cuja prevalência está estimada em aproximadamente 1 para cada 500 adultos na população geral. Mais de 450 mutações foram identificadas em 20 genes responsáveis por diferentes fenótipos. Na maioria dos casos, a CMH está associada com mutações nos genes […]