CONGRESS ABSTRACT

Obstructive hypertrophic cardiomyopathy (oHCM) is driven by hypercontractility and systolic anterior motion (SAM) of the mitral valve, causing dynamic left ventricular outflow tract obstruction (LVOTO) and symptoms (dyspnea, angina, reduced exercise tolerance). Traditional therapies (β-blockers, non-dihydropyridine calcium-channel blockers ± disopyramide) mainly relieve symptoms; septal reduction therapy (SRT) is considered…

INTRODUCTION: Hypertrophic cardiomyopathy (HCM) is a genetic myocardial disease caused by sarcomeric mutations, most commonly involving MYBPC3 and MYH7 genes. While the obstructive form is prevalent, a minority of non-obstructive patients may progress to a dilated–hypokinetic phase characterized by systolic dysfunction, myocardial fibrosis, and poor prognosis. This advanced phenotype…

Hypertrophic cardiomyopathy (HCM) is the most common genetic cardiovascular disorder and it has an extremely variable clinical presentation. Here we report the case of a young patient, with no previous cardiac history or cardiovascular risk factors, presenting to the emergency department with chest pain, electrocardiographic changes, and troponin elevation….

Background: We report a family affected by hypertrophic cardiomyopathy (HCM) caused by a pathogenic variant (c.3192dup p.Lys1065GlnfsTer12) in the MYBPC3 gene, illustrating remarkable phenotypic heterogeneity and a malignant clinical course. Case Presentation: The proband (second-born) was diagnosed at age 17 with obstructive HCM. His clinical course was characterized by…

Introduction Hypertrophic cardiomyopathy (HCM) is a cardiac disease characterized by increased ventricular wall thickness in the absence of abnormal loading conditions. Most cases are associated with genetic variants encoding sarcomeric proteins. 964 variants have been identified in over 25 HCM-associated genes, most frequently involving MYH7 and MYBPC3. Variants in…

Introduction : Mavacamten, a first-in-class cardiac myosin ATPase inhibitor used as second-line option for treating hypertrophic obstructive cardiomyopathy (HOCM), was introduced in Italy in early 2024 through a compassionate use program. Aim : To illustrate 48 week (W) follow up (FU) data from compassionate use of Mavacamten in a…

Background Hypertrophic cardiomyopathy (HCM) is a genetically determined myocardial disorder defined by unexplained left ventricular hypertrophy. Although frequently asymptomatic in the early stages, it remains one of the leading causes of sudden cardiac death in young individuals and athletes. Detecting subtle manifestations of the disease during routine screening plays…

Background: Isolated left posterior fascicular block (LPFB) is rare in youth and may signal underlying LV fibrosis and cardiomyopathy. We report a case of sudden cardiac arrest (SCA) followed by death (SCD) in a previously healthy adolescent with known LPFB and autopsy-proven hypertrophic cardiomyopathy (HCM). Case: A previously healthy…