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40 results for “Brugada syndrome;”
Genome-wide association analyses identify novel Brugada syndrome risk loci and highlight a new mechanism of sodium channel regulation in disease susceptibility
<p>The Brugada syndrome GWAS summary statistics</p> <p>Brugada syndrome is a cardiac arrhythmia disorder associated with sudden death in young adults. With the exception of <em>SCN5A</em>, encoding the cardiac sodium channel Na<sub>V</sub>1.5, susceptibility genes remain largely unknown. We performed a genome-wide association meta-analysis comprising 2,820 unrelated cases with Brugada syndrome and 10,001 controls.</p> <p> </p>
Dataset related to the article "Clinical and Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation"
<p>This record contains raw data related to the article “ Molecular Data Define a Diagnosis of Arrhythmogenic Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 Mutation”. </p> <p>Plakophilin-2 (<em>PKP2</em>) is the most frequently mutated desmosomal gene in arrhythmogenic cardiomyopathy (ACM), a disease characterized by structural and electrical alterations predominantly affecting the right ventricular myocardium. Notably, ACM cases without overt structural alterations are frequently reported, mainly in the early phases of the disease. Recently, the <em>PKP2</em> p.S183N mutation was found in a patient affected by Brugada syndrome (BS), an inherited arrhythmic channelopathy most commonly caused by sodium channel gene mutations. We here describe a case of a patient carrier of the same BS-related <em>PKP2</em> p.S183N mutation but with a clear diagnosis of ACM. Specifically, we report how clinical and molecular investigations can be integrated for diagnostic purposes, distinguishing between ACM and BS, which are increasingly recognized as syndromes with clinical and genetic overlaps. This observation is fundamentally relevant in redefining the role of genetics in the approach to the arrhythmic patient, progressing beyond the concept of "one mutation, one disease", and raising concerns about the most appropriate approach to patients affected by structural/electrical cardiomyopathy. The merging of genetics, electroanatomical mapping, and tissue and cell characterization summarized in our patient seems to be the most complete diagnostic algorithm, favoring a reliable diagnosis.</p>
Deep learning unmasks the ECG signature of Brugada Syndrome
<p><span>One in ten cases of sudden cardiac death strikes without warning as the result of an inherited arrhythmic cardiomyopathy, </span><span>such as Brugada Syndrome (BrS). Normal physiological variations often obscure visible signs of this and related life-</span><span>threatening channelopathies in conventional electrocardiograms (ECGs). Sodium channel blockers can reveal previously </span><span>hidden diagnostic ECG features, however, their use carries the risk of life-threatening proarrhythmic side effects. The </span><span>absence of a non-invasive test places a grossly underestimated fraction of the population at risk of SCD. Here, we present </span><span>a machine learning algorithm that extracts, aligns, and classifies ECG waveforms for the presence of BrS. This protocol, </span><span>which succeeds without the use of a sodium channel blocker (88.4% accuracy, 0.934 AUC in validation), can aid clinicians </span><span>everywhere to identify the presence of this potentially life-threatening heart disease more easily.</span></p>
Deep learning unmasks the ECG signature of Brugada Syndrome
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Epicardial Ablation in Brugada Syndrome. An Extension Study of 500 BrS.Patients
ClinicalTrials.gov study NCT03106701. IPD Sharing: NO. Countries: 1. Publications: 3.
VF Mapping in Brugada and Early Repolarization Syndromes
ClinicalTrials.gov study NCT03764592. IPD Sharing: NO. Countries: 1. Publications: 4.
Invasive and Clinical Features in Patients With Brugada Syndrome Undergoing Catheter Ablation
ClinicalTrials.gov study NCT05685134. IPD Sharing: YES. Countries: 1. Publications: 3.
Validation Of A New S-ICD Algorithm To Reduce Oversensing Of Dynamic T-Waves In Patients With Brugada Syndrome
ClinicalTrials.gov study NCT04504591. IPD Sharing: Not stated. Countries: 3. Publications: 1.
Artificial Intelligence for the Prioritization of Genetic Background in Brugada Syndrome
ClinicalTrials.gov study NCT06376552. IPD Sharing: UNDECIDED. Countries: 1. Publications: 3.
Epicardial Ablation in Brugada Syndrome to Prevent Sudden Death
ClinicalTrials.gov study NCT03294278. IPD Sharing: NO. Countries: 1. Publications: 1.
Brugada Syndrome and Artificial Intelligence Applications to Diagnosis
ClinicalTrials.gov study NCT04641585. IPD Sharing: NO. Countries: 1. Publications: 7.
Epicardial Ablation in Brugada Syndrome
ClinicalTrials.gov study NCT02641431. IPD Sharing: NO. Countries: 1. Publications: 6.
Ablation in Brugada Syndrome for the Prevention of VF
ClinicalTrials.gov study NCT02704416. IPD Sharing: YES. Countries: 2. Publications: 4.
Brugada Syndrome Substrate Characterization and Ablation
ClinicalTrials.gov study NCT05643209. IPD Sharing: NO. Countries: 1. Publications: 1.
Southeast Asian Brugada Syndrome Cohort
ClinicalTrials.gov study NCT04232787. IPD Sharing: YES. Countries: 1. Publications: 6.
DNA Methylation in Brugada Syndrome and Risk of Sudden Cardiac Death
ClinicalTrials.gov study NCT06888271. IPD Sharing: UNDECIDED. Countries: 0. Publications: 1.
Patient-Specific and Genome-Edited Induced Pluripotent Stem Cell-Derived Cardiomyocytes Elucidate Single-Cell Phenotype of Brugada Syndrome
GEO Series GSE93530. Homo sapiens. 4 samples. Type: Expression profiling by high throughput sequencing.
N-Palmitoylglycine activates transient receptor potential channel 5 and increases the risk of Brugada syndrome
GEO Series GSE278421. Rattus norvegicus. 10 samples. Type: Expression profiling by high throughput sequencing.
High Density Mapping in Brugada Syndrome
ClinicalTrials.gov study NCT06567639. IPD Sharing: NO. Countries: 1. Publications: 0.
Diagnostic Value and Safety of Flecainide Infusion Test in Brugada Syndrome
ClinicalTrials.gov study NCT02302274. IPD Sharing: Not stated. Countries: 1. Publications: 0.
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International Brain Laboratory public data
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OpenNeuro
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