Genotype-Phenotype Correlation in Hypertrophic Cardiomyopathy: New Variant p.Arg652Lys in .

Hypertrophic cardiomyopathy (HCM) is a genetic disease characterised by increased left ventricle (LV) wall thickness caused by mutations in sarcomeric genes. Finding a causal mutation can help to better assess the proband's risk, as it allows the presence of the mutation to be evaluated in relatives and the follow-up to be focused on carriers. We performed an observational study of patients with HCM due to the novel p.

Diastolic dysfunction and exercise capacity in patients with metabolic syndrome and overweight/obesity.

Background: Left ventricle diastolic dysfunction (LVDD) is a common finding in high risk individuals, its presence being associated with reduced exercise capacity (EC). We assessed the prevalence of LVDD, applying the 2016 guidelines of the American Society of Echocardiography (ASE)/European Association of Cardiovascular Imaging (EACVI), in a population with overweight/obesity and metabolic syndrome and its association with EC.

Methods And Results: This was a prospective, cross-sectional study of a cohort of 235 patients (mean age of 65 ± 5 years old and 33% female) without heart disease and an ejection fraction >50% who underwent a complete echocardiographic assessment and cardiopulmonary exercise testing.