bACkgRouNd: Hypertrophic cardiomyopathy (HCM) is a multifactorial disorder, with mutations implicated in 14 sarcomeric and cytoskeletal genes, leading to genotypic and phenotypic heterogeneity, and a challenging genetic and clinical diagnosis. The genetic characteristics of HCM have been studied for more than two decades in various ethnic and racial groups, and many novel genetic variations hav...

The year 1990 saw a decisive step forward in the understanding of hypertrophic cardiomyopathy (HCM)—one of the most common hereditary diseases (prevalence 1/500 families)—when it was discovered that the associated left ventricular wall hypertrophy was due to a mutation in the gene coding for the betamyosin heavy chain (MYH7),1 the main contractile protein of the sarcomere and that which forms t...

Background: Lung cancer is one of the major cause death globally. Crizotinib a first-line drug used in treating non-small-cell lung (NSCLC). However, pathophysiological mechanisms underlying its cardiotoxicity are unknown. This study investigated crizotinib-induced and explored whether this toxicity can be prevented by angiotensin receptor/neprilysin inhibitor sacubitril/valsartan. Methods: Mal...

Exercise improves insulin sensitivity and oxidative capacity in skeletal muscles. However, the effect of exercise on substrate oxidation is less clear in obese and type 2 diabetic subjects than in lean subjects. We investigated glucose and lipid metabolism and gene expression after 48 h with low-frequency electrical pulse stimulation (EPS), as an in vitro model of exercise, in cultured myotubes...

Objective: Hypertrophic cardiomyopathy (HCM) is an autosomal dominant disorder caused by mutations in sarcomeric proteins and characterized hypertrophy of the heart muscle. 
 Materials Methods: In present study, 21 patients with HCM some their parents were evaluated via next-generation sequencing (NGS) using a targeted panel 17 genes. Results: Pathogenic or likely pathogenic variants detec...

Letter to the Editor With interest we read the article by Esposito et al. about a female child with myopathy and left ventricular hypertrabeculation / noncompaction (LVHT) carrying a mutation in two different genes, the integrin-α7 gene and the myosin heavy chain 7B gene (MYH7B) [1]. We have the following comments and concerns. The authors mention in the discussion that MYL2 and MYL3 mutations ...