Brugada syndrome is characterized clinically by the onset of syncopes or sudden death related to ventricular tachyarrhythmias in patients with a structurally normal heart. Its electrocardiographic features include right bundle branch bloc and ST-segment elevations in the precordial leads V1-V3. The estimated prevalence is 1 per 1000 in Asian countries and probably lower elsewhere: Asia is probably a birthplace of the syndrome. Its transmission is autosomal dominant with variable penetrance. Mutations have been identified in a gene coding for the alpha subunit of the sodium channel (SCN5A) in only 25% of cases. These genetic abnormalities cause a reduction of the density of the sodium current and explain the aggravation of electrocardiographic abnormalities caused by antiarrhythmic sodium channel blockers. Prognosis is very serious in symptomatic patients: prevention of sudden death requires implantation of an automatic defibrillator. The treatment decision is much more difficult for asymptomatic subjects with no family history.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/j.lpm.2007.03.019 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Seizures and premature death in mice with targeted Kv1.1 deficiency in corticolimbic circuits.
Brain Commun
January 2025
Department of Biological Sciences, Southern Methodist University, Dallas, TX 75275, USA.
Sudden unexpected death in epilepsy (SUDEP) is the leading cause of epilepsy-related death, likely stemming from seizure activity disrupting vital brain centres controlling heart and breathing function. However, understanding of SUDEP's anatomical basis and mechanisms remains limited, hampering risk evaluation and prevention strategies. Prior studies using a neuron-specific conditional knockout mouse model of SUDEP identified the primary importance of brain-driven mechanisms contributing to sudden death and cardiorespiratory dysregulation; yet, the underlying neurocircuits have not been identified.
View Article and Find Full Text PDFRespiratory failure as main presentation sign of MAPT-related disorder.
J Neurol
January 2025
Centre de Génétique Humaine, Centre Hospitalier Universitaire de Besançon, Besançon, France.
Introduction: The MAPT gene encodes Tau, a protein mainly expressed by neurons. Tau protein plays an important role in cerebral microtubule polymerization and stabilization, in axonal transport and synaptic plasticity. Heterozygous pathogenic variation in MAPT are involved in a spectrum of autosomal dominant neurodegenerative diseases known as taupathies, including Alzheimer's disease, Pick's disease, fronto-temporal dementia, cortico-basal degeneration and progressive supranuclear palsy.
View Article and Find Full Text PDFSuccessful ablation of Purkinje-related ventricular ectopy leading to ventricular fibrillation in Emery-Dreifuss dilated cardiomyopathy.
J Interv Card Electrophysiol
January 2025
Cardiology Department, Hospital Universitario Virgen de Las Nieves, Granada, Spain.
Introduction: Mutations in EMD are related to an increased risk of ventricular arrhythmias and sudden cardiac death. There is a lack of data concerning ventricular arrhythmia ablation in Emery-Dreifuss patients.
Methods And Results: We present a case of successful ablation of a short-coupled ventricular ectopy (VE) triggering recurrent ventricular fibrillation (VF) episodes in a EMD patient with an intraseptal substrate.
Socioeconomic position and sudden cardiac death: A Danish nationwide study.
Europace
January 2025
Department of Cardiology, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.
Aims: The aim of this study was to examine differences in incidence rates of all-cause mortality (ACM) and sudden cardiac death (SCD) in persons of differing socioeconomic position (SEP).
Methods: All deaths in Denmark from 01-01-2010 to 31-12-2010 (1 year) were included. Autopsy reports, death certificates, discharge summaries and nationwide health registries were reviewed to identify cases of SCD.
Excessive activation of JAK-STAT signaling contributes to inflammation induced by acute infection in shrimp.
Virulence
December 2025
State Key Laboratory of Biocontrol, School of Life Sciences/Southern Marine Science and Engineering Guangdong Laboratory (Zhuhai)/China-ASEAN Belt and Road Joint Laboratory on Mariculture Technology, Sun Yat-sen University, Guangzhou, P. R. China.
Uncontrolled immune responses resulting from overactivated cellular signaling pathways, leading to inflammation and tissue injury, are a major cause of death in pathogen-infected individuals. This phenomenon has been well studied in mammals but is less explored in invertebrates. Bacteria of the genus are among the most harmful pathogens to humans and aquatic animals.
View Article and Find Full Text PDFWant AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!