Arrhythmogenic cardiomyopathy is an umbrella term for a group of inherited diseases of the cardiac muscle characterized by progressive fibro-fatty replacement of the myocardium. As suggested by the name, the disease confers electrical instability to the heart and increases the risk of the development of life-threatening arrhythmias, representing one of the leading causes of sudden cardiac death (SCD), especially in young athletes. In this review, the authors review the current knowledge of the disease, highlighting the state-of-the-art approaches to the prevention of the occurrence of SCD.
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http://dx.doi.org/10.1016/j.ccep.2023.04.004 | DOI Listing |
Circ Genom Precis Med
January 2025
Department of Cardiology, Cardiovascular Research Institute Maastricht, Maastricht University, the Netherlands (S.L.V.M.S., N.J.B., M.F.G.H.M.V., V.P.M.v.E., J.A.J.V.).
J Cell Sci
January 2025
Institute of Anatomy and Experimental Morphology, Center for Experimental Medicine, University Cancer Center Hamburg, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.
Desmosomes are adhesive cell contacts abundant in tissues exposed to mechanical strain, such as the stratified and simple epithelia of the epidermis and mucous membranes, as well as the myocardium. Besides their role in mechanical cell cohesion, desmosomes also modulate pathways important for tissue differentiation, wound healing and immune responses. Dysfunctional desmosomes, resulting from pathogenic variants in genes encoding desmosomal components, autoantibodies targeting desmosomal adhesion molecules or inflammation, cause the life-threatening diseases arrhythmogenic cardiomyopathy and pemphigus and contribute to the pathogenesis of inflammatory bowel diseases.
View Article and Find Full Text PDFCurr Med Chem
January 2025
Key Laboratory of Carcinogenesis and Translational Research (Ministry of Education/Beijing), Department of Gastrointestinal Oncology, Peking University Cancer Hospital and Institute, Beijing, 100142, China.
Background: Resistance to lenvatinib poses a serious threat to the therapy of patients with Hepatocellular Carcinoma (HCC). The mechanism by which HCC develops resistance to lenvatinib is currently unknown.
Objective: The aim of this study was to identify key genes and pathways involved in lenvatinib resistance in HCC using bioinformatic analysis and experimental validation.
Heart
January 2025
Department of Cardiology, University Hospital Zurich, Zurich, Switzerland
Background: Cardiac sarcoidosis (CS) is a chronic inflammatory disease characterised by non-caseating granulomas, while arrhythmogenic cardiomyopathy (ACM) is a genetic condition mainly affecting desmosomal proteins. The coexistence of CS and genetic variants associated with ACM is not well understood, creating challenges in diagnosis and management. This study aimed to describe the clinical, imaging and genetic features of patients with both conditions.
View Article and Find Full Text PDFBJR Case Rep
January 2025
Unità Operativa di Radiologia, Cà Granda Ospedale Maggiore Policlinico, Fondazione I.R.C.C.S., Milan 20122, Italy.
A 19-year-old woman presented to the emergency department with arrhythmia and signs of cardiogenic shock. After a 12-lead electrocardiogram ruled out acute myocardial infarction, and cardiac magnetic resonance showed no sign of cardiomyopathy, cardiac computed tomography angiography (CCTA) was performed, displaying ostial atresia of the right coronary artery. She was thus referred to a specialist centre for congenital cardiovascular disease, where an electrophysiological study observed an arrhythmogenic focus on the posteromedial papillary muscle, which was ablated, and she has been asymptomatic since.
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