Sudden cardiac death is a leading cause of mortality, claiming millions of lives every year. Recent advances in cardiac arrhythmia mapping have demonstrated that the ventricular epicardial region has a critical arrhythmogenic role in some inherited cardiogenetic diseases. Historically, electroanatomic abnormalities have been identified in the ventricular epicardium of patients with arrhythmogenic right ventricular cardiomyopathy. More recently, epicardial pathological substrates have been identified also in disease (Brugada syndrome, early repolarization syndrome) and currently in long QT syndrome. In light of these findings, the epicardial area has emerged as an important determinant in sudden cardiac death-related cardiomyopathies.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10120943 | PMC |
http://dx.doi.org/10.1093/eurheartjsupp/suad090 | DOI Listing |
Neth Heart J
February 2025
Department of Cardiology, University Medical Centre Utrecht, Utrecht, The Netherlands.
Introduction: Current family screening approaches in dilated cardiomyopathy (DCM) depend on the presence or absence of a familial genetic variant, in which variant pathogenicity (i.e. benign or pathogenic) classification drives screening recommendations.
View Article and Find Full Text PDFEur J Neurol
January 2025
Folkhalsan Research Center, Helsinki, Finland.
Background: myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration. Most reported cases are due to dominant missense mutations in the MYOT gene, two of which are largely recurrent.
View Article and Find Full Text PDFHum Genet
January 2025
Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, Karnataka, India.
Neuron navigators (NAVs) are cytoskeleton-associated proteins well known for their role in axonal guidance, neuronal migration, and neurite growth necessary for neurodevelopment. Neuron navigator 3 (NAV3) is one of the three NAV proteins highly expressed in the embryonic and adult brain. However, the role of the NAV3 gene in human disease is not well-studied.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Laboratoire de Génétique Moléculaire, Centre Hospitalier Universitaire de Montpellier, 34093 Montpellier, France.
Eur Heart J Qual Care Clin Outcomes
December 2024
Barts Heart Centre, St. Bartholomew's Hospital, Barts Health NHS Trust, West Smithfield, London EC1A 7BE, UK.
Dilated cardiomyopathy (DCM) is extensively discussed in numerous expert consensus documents and international guidelines, with differing recommendations. To support clinicians in daily practice and decision-making, we conducted a systematic review of key guidelines and recommendations concerning the diagnosis and clinical management of DCM. Our research encompassed MEDLINE and EMBASE databases for relevant articles published, as well as the websites of relevant scientific societies.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!