CONGRESS ABSTRACT

In November 2023, a 38-year-old woman was referred to our outpatient clinic for dyspnea. Her medical history included systemic lupus erythematosus complicated by lupus nephritis for which she underwent renal transplantation in 2017. She was in NYHA class III with signs of congestive heart failure. Electrocardiography showed sinus rhythm…

Background and aim: Obstructive hypertrophic cardiomyopathy (oHCM) is a common cause of heart failure in children and is often associated with RASopathies, such as Noonan Syndrome (NS). High-dose beta blockers remains the first-line option in patients with OHCM. In this case series, we aim to describe the effect of…

Background: Fabry disease may present with a late-onset phenotype and predominantly cardiac involvement; diagnosis can emerge through cascade screening even in asymptomatic individuals. Case presentation: A 70-year-old man was referred after Fabry disease was identified through family screening triggered by a positive newborn screening result in a second-degree grandchild….

Background: A 71-year-old woman with a history of hypertension, dyslipidemia, diabetes, ischemic heart disease and permanent atrial fibrillation (since 2013) was admitted for post-infectious gonarthritis. A recent evaluation had suggested a hypertrophic phenotype, raising suspicion of infiltrative cardiomyopathy. Case Presentation: During hospitalization, a cardiological consultation was requested. The echocardiogram…

A 64-year-old woman with maternally inherited hypertrophic cardiomyopathy (MIHCM) was referred to our Cardiomyopathy Center. She was diagnosed with HCM at age 30 via family screening, initially presenting with moderate hypertrophy (IVS 16 mm, PW 13 mm) and preserved left ventricular (LV) systolic function. Family history was significant for…

Il paziente è un giovane di 18 anni affetto da cardiomiopatia da mutazione c.1598>Gp (His530Arg) nel gene PRKAG2 , diagnosticata in età pediatrica e caratterizzata da progressivo incremento degli spessori parietali ventricolari. Tale patologia, rappresenta una cardiomiopatia metabolica da accumulo di glicogeno con fenotipo caratteristico: ipertrofia massiva, disturbi di…

Background Fabry disease is an X-linked lysosomal storage disorder characterized by heterogeneous clinical expression, particularly in female patients, in whom cardiac involvement may be subtle and diagnosis delayed. Cardiopulmonary exercise testing (CPET) provides an integrated assessment of cardiovascular, pulmonary, and peripheral responses to exercise and may help identify early…