CONGRESS ABSTRACT

Background: Genetic cardiac overlap syndromes pose significant diagnostic and therapeutic challenges in pediatric patients, particularly when arrhythmogenic and structural phenotypes coexist. Variants in the RYR2 gene are classically associated with catecholaminergic polymorphic ventricular tachycardia and arrhythmogenic cardiomyopathy; however, their involvement in complex phenotypes including long QT syndrome (LQTS) and…

A 31 years old male patient experienced witnessed cardiac arrest (CA), with ventricular fibrillation (VF) as first detected rhythm. Return of spontaneous circulation (ROSC) was achieved after CPR, administration of adrenaline, amiodarone and 3 direct-current defibrillation shocks. ECG after ROSC was negative for STEMI showing sinus tachycardia, first degree…

Background: Thalassemia major is a chronic hematologic disorder requiring regular blood transfusions and associated with a high risk of iron overload, including myocardial deposition and the development of cardiac hemochromatosis. This condition represents a leading cause of morbidity and mortality, making early detection of structural and functional cardiac alterations…

A 49-year-old man with unremarkable past medical history presented to the emergency department for chest pain. Echocardiography showed biventricular severe dilatation and dysfunction (left ventricular ejection fraction [FEVS] 19%) with eccentric hypertrophy (Figure 1). ECG did not show acute ischemic issues (Figure 2). Serum biomarkers revealed raised Troponin-I, low…

Background: Takotsubo syndrome is an acute and reversible cardiomyopathy traditionally considered benign; however, growing evidence highlights a significant risk of malignant ventricular arrhythmias. Genetic susceptibility, particularly variants associated with channelopathies, may modulate arrhythmic risk and influence management. Case Presentation: A 69-year-old woman with a family history of sudden cardiac…

Saw-tooth cardiomyopathy (STC) is a rare form of left ventricular cardiomyopathy , characterised by an irregular, “saw-tooth” endocardial contour with myocardial projections extending from the lateral walls towards the ventricular cavity. This pattern is distinct from LVNC. It is a newly discovered cardiomyopathy, first described in 2009, and to…

An adult patient was referred for cardiological assessment due to a complex family history of cardiac disease. Two of his five children, who had structural cardiac abnormalities, were being followed for suspected long QT syndrome despite negative genetic testing and one of his cousins died suddenly at 44 years…

A 71-years-old woman presented to the emergency department of our institution. In the last three weeks she had fever with acme at 40 °C associated with general malaise and intense asthenia. The patient also complained of two syncopal episodes which prompted her to go to the hospital. The physical…