OBJECTIVE To determine the influence of a positive genetic test for hypertrophic
cardiomyopathy (HCM) on clinical outcome. PATIENTS AND METHODS A cohort of 203 …

Aims Retrospective studies have identified a mutation in the lamin A/C (LMNA) gene in
patients selected on the basis of a phenotype characterized by dilated cardiomyopathy …

Background Danon disease (DD) is a rare disorder characterized by cardiomyopathy,
intellectual disability, and proximal myopathy. It is caused by mutations in the LAMP2 gene …

Introduction: To improve the endomyocardial biopsy (EMB) diagnostic sensitivity for
arrhythmogenic right ventricular cardiomyopathy/dysplasia (ARVC/D), we hypothesized a …

Anderson-Fabry disease (FD) is a rare, progressive, multisystem storage disorder caused by
the partial or total deficit of the lysosomal enzyme α-galactosidase A (α-Gal A). It is an X …

Background: Serum anti-heart autoantibodies (AHAs) and anti-intercalated disk
autoantibodies (AIDAs) are autoimmune markers in myocarditis. Myocarditis has been …

Background In hypertrophic cardiomyopathy (HCM), most of the factors associated with the
risk of sudden cardiac death (SCD) are also involved in the pathophysiology of exercise …

Background Myocardial hyperintensity on T2-weighted short-tau inversion recovery
(STIR)(HyT2) cardiac magnetic resonance (CMR) images has been demonstrated in …

Sudden cardiac death (SCD) is the most life-threating complication of hypertrophic
cardiomyopathy. Guidelines of the European Society of Cardiology (ESC) suggest the …

Background Mutations causing hypertrophic cardiomyopathy (HCM) have been described in
nine different genes of the sarcomere. Three genes account for most known mutations: β …