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Hypertrophic Cardiomyopathy: New Clinical and Therapeutic Perspectives of an "Old" Genetic Myocardial Disease.
Genes (Basel)
January 2025
Department of Cardiac, Thoracic, Vascular Sciences and Public Health, University of Padua Medical School, 35128 Padova, Italy.
Since its first pathological description over 65 years ago, hypertrophic cardiomyopathy (HCM), with a worldwide prevalence of 1:500, has emerged as the most common genetically determined cardiac disease. Diagnostic work-up has dramatically improved over the last decades, from clinical suspicion and abnormal electrocardiographic findings to hemodynamic studies, echocardiography, contrast-enhanced cardiac magnetic resonance, and genetic testing. The implementation of screening programs and the use of implantable cardioverter defibrillators (ICDs) for high-risk individuals have notably reduced arrhythmic sudden deaths, altering the disease's mortality profile.
View Article and Find Full Text PDFAnderson-Fabry Disease: An Overview of Current Diagnosis, Arrhythmic Risk Stratification, and Therapeutic Strategies.
Diagnostics (Basel)
January 2025
Electrophysiology Unit, De Gasperis Cardio Center, Niguarda Hospital, 20162 Milan, Italy.
Anderson-Fabry disease (AFD) is a rare X-linked lysosomal storage disorder characterized by the accumulation of globotriaosylceramide, leading to multi-organ involvement and significant morbidity. Cardiovascular manifestations, particularly arrhythmias, are common and pose a considerable risk to affected individuals. This overview examines current approaches to arrhythmic risk stratification in AFD, focusing on the identification, assessment, and management of cardiac arrhythmias associated with the disease.
View Article and Find Full Text PDFClinical and CT Features, Clinical Management, and Decision on Sport Eligibility of Professional Athletes with Congenital Coronary Anomalies: A Case Series Study.
J Cardiovasc Dev Dis
December 2024
Department of Biomedical and Clinical Sciences, University of Milan, 20122 Milan, Italy.
Background: Congenital coronary artery anomalies (CAAs) are a significant cause of sudden cardiac death and a key factor in determining athletes' eligibility for competitive sports. Their prevalence varies with diagnostic modalities and may present as asymptomatic or with life-threatening ischemic or arrhythmic events. This case series highlights the diverse manifestations of CAAs and the clinical approaches used to determine sports eligibility.
View Article and Find Full Text PDFWhich Brugada patient deserves continuous ECG monitoring through implantable loop recorder? An evidence update.
J Cardiovasc Med (Hagerstown)
February 2025
Division of Cardiology, Department of Pharmacy, Health and Nutritional Sciences, University of Calabria, Rende (CS).
Brugada syndrome (BrS) is a genetic condition that increases the risk of life-threatening arrhythmias, which can result in sudden cardiac death (SCD). Implantable loop recorders (ILRs) have become a key tool in managing patients with unexplained syncope, and guidelines advise their use in individuals with recurrent, unexplained syncope or palpitations. However, the role of ILRs in inherited arrhythmic conditions like BrS remains a topic of debate.
View Article and Find Full Text PDFBackground: The association between corrected QT (QTc) interval and life-threatening cardiac events in patients with hypertrophic cardiomyopathy (HCM) remains unclear. This study sought to investigate whether the prolonged QTc was associated with HCM-related death in patients with HCM.
Methods: We included 445 patients with HCM (mean age 51 ± 16 years, 67% men).
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