Abstract 13618: Negative Association of H558r Polymorphism and Ventricular Fibrillation in Patients With Brugada Syndrome

Circulation ◽  
2014 ◽  
Vol 130 (suppl_2) ◽  
Author(s):  
Hiroya Matsumura ◽  
Yukiko Nakano ◽  
Masaaki Toshishige ◽  
Hidenori Ochi ◽  
Takehito Tokuyama ◽  
...  
Keyword(s):  
Ventricular Fibrillation ◽  
Membrane Trafficking ◽  
Brugada Syndrome ◽  
Clinical Manifestations ◽  
Taqman Assay ◽  
Nonsynonymous Mutation ◽  
Study Population ◽  
The Common ◽  
Electrocardiogram Ecg ◽  
Normal Controls

BACKGROUND: The common SCN5A polymorphism H558R has been reported as a genetic modulator that improves sodium channel activity in mutated channels by repairing abnormal channel gating kinetics and membrane trafficking. We investigated the possible effects of H558R on the clinical manifestations of Brugada syndrome. METHODS: The study population comprised 95 Brugada syndrome patients (mean age 42 ± 14 years, 91 males and 4 females) and 1,875 normal controls. H558R was genotyped by TaqMan assay in all subjects. The SCN5A gene mutation was screened by resequencing. We evaluated the PR, QRS, and QTc intervals from lead II and the J-point amplitude from leads V1 and V2 of a 12-lead electrocardiogram (ECG). We also evaluated signal-averaged ECG and electrophysiological parameters. RESULTS: H558R was less frequent in patients with Brugada syndrome than normal controls (4.7% vs. 10.3%, P = 0.01). Surprisingly, H558R (minor allele A) was not observed in patients with Brugada syndrome without ventricular fibrillation (VF; n = 60), whereas 7.5% of patients with VF had H558R (n = 35). Nonsynonymous mutation of SCN5A was not detected in patients with H558R. The H558R carriers showed lower J-point elevation in lead V1 than noncarriers (1.8 ± 0.4 vs. 3.3 ± 0.3 mV, P = 0.04). Other parameters in the 12-lead and signal-averaged ECG were similar in patients with and without H558R. CONCLUSION: We demonstrated that the H558R polymorphism was a strong protective genetic modulator even in Brugada syndrome patients without SCN5A mutation.

Brugada Syndrome – Report of Familial Occurrence Diagnosed in the Emergency Department

2020 ◽  
Vol 6 (1) ◽  
pp. 17-19
Author(s):  
Mojtaba Fazel ◽  
Fatemeh Hamidi ◽  
Elham Afshari
Keyword(s):  
Emergency Department ◽  
Ventricular Fibrillation ◽  
Rare Disease ◽  
Male Patient ◽  
Brugada Syndrome ◽  
Genetic Disorder ◽  
Clinical Manifestations ◽  
St Segment ◽  
Increased Risk

AbstractIntroduction: Brugada syndrome represents the clinical manifestation of a rare disease with genetic etiology. The syndrome is characterized by ventricular dysrhythmias associated with syncope or sudden cardiac death in the lack of any structural cardiac disease. The diagnosis of Brugada syndrome is established if a type 1 electrocardiographic (ECG) pattern of ST-segment and QRS morphology is present, in association with certain clinical manifestations and/or familial history.Case presentation: A 31-year-old male patient, without any medical history, presented in the emergency department (ED) of a clinical center. His only complaints consisted in palpitations, chest discomfort, and emotional stress related to the recent death of his wife. Earlier on the same day, his wife, a 25-year-old female was brought via emergency medical services (EMS) to the ED after presenting ventricular fibrillation. The female patient presented a long term history of chest pain and one year prior to this episode she presented idiopathic ventricular fibrillation, for which she had undergone implantation of an automated cardioverter defibrillator. As the couple were cousins, the EMS specialist suspected the presence of a familial cardiac disorder. The electrocardiogram of the male patient revealed a coved-type ST-segment elevation of 4 mm in leads V1–V3 compatible with type 1 Brugada syndrome.Conclusion: In case of Brugada syndrome, a genetic disorder associated with increased risk of SCD, the patient's first-degree relatives should be investigated as well, in order to identify the presence of the syndrome and to prevent SCD. As the sole established effective therapeutic measure for patients diagnosed with Brugada syndrome, ICD implantation should be considered in order to decrease the risk of syncope and SCD. This case is particular because a rare disease with familial etiology was identified in both husband and wife, who were cousins.

scholarly journals An Open Invitation to Join the International Brugada Electrocardiographic Indices Registry

2020 ◽  
Vol 4 (3) ◽  
pp. 217-221
Author(s):  
Gary Tse ◽  
Sharen Lee ◽  
Xuan Jiang ◽  
Dong Chang ◽  
Yunfei Gu ◽  
...  
Keyword(s):  
Ventricular Tachycardia ◽  
Ventricular Fibrillation ◽  
Risk Stratification ◽  
Brugada Syndrome ◽  
Additional Information ◽  
Data Registry ◽  
Asymptomatic Patients ◽  
Baseline Characteristics ◽  
Electrocardiogram Ecg ◽  
Repolarization Abnormalities

Background: The Brugada Electrocardiographic Indices Registry is a comprehensive data registry composed of patients with Brugada patterns on the electrocardiogram (ECG). The aim is to test the hypotheses that (i) ECG indices combining both depolarization and repolarization abnormalities can better predict spontaneous ventricular arrhythmias than existing ECG markers in Brugada syndrome and (ii) that serial ECG measurements will provide additional information for risk stratification, especially in asymptomatic patients.Methods: Patients with both Brugada pattern ECGs and Brugada syndrome are eligible for inclusion in this registry. Baseline characteristics and ECG variables reflecting depolarization and repolarization will be determined. The primary outcome is spontaneous ventricular tachycardia/ventricular fibrillation or sudden cardiac death. Secondary outcomes are inducible ventricular tachycardia/ventricular fibrillation and syncope.Results: As of November 15, 2019, 39 investigators from 32 cities in 18 countries had joined this registry. As of December 15, 2019, 1383 cases had been enrolled.Conclusions: The Brugada Electrocardiographic Indices Registry will evaluate the disease life course, risk factors, and prognosis in a large series of Brugada patients. It will therefore provide insights for improving risk stratification.

Association of microRNA-125a with the clinical features, disease activity and inflammatory cytokines of juvenile-onset lupus patients

Lupus ◽  
2021 ◽  
pp. 096120332110103
Author(s):  
Eman Eissa ◽  
Botros Morcos ◽  
Rania Fawzy Mahmoud Abdelkawy ◽  
Hanan H Ahmed ◽  
Naglaa M Kholoussi
Keyword(s):  
Disease Activity ◽  
Inflammatory Cytokines ◽  
Lupus Erythematosus ◽  
Plasma Levels ◽  
Clinical Manifestations ◽  
Juvenile Onset ◽  
Expression Levels ◽  
Ifn Γ ◽  
Chronic Autoimmune Disease ◽  
Normal Controls

Background Systemic lupus erythematosus (SLE) is a chronic autoimmune disease with marked variation in its clinical presentation. Juvenile-onset SLE (jSLE) exhibits an aggressive clinical phenotype and severe complications. Dysregulated expression of microRNAs (miRs) in immune cells from patients with SLE has been found. We aim to evaluate the association of miR-125a with the clinical and laboratory characteristics, disease activity and inflammatory cytokines of jSLE patients. Methods 60 jSLE patients and 25 normal controls were involved in the study. The expression pattern of miR-125a was determined in plasma of all subjects using qRT-PCR. In addition, plasma levels of IL-17 and IFN-γ were examined using ELISA. The correlation of miR-125a expression with the clinical manifestations and disease activity of jSLE patients was analyzed. Also, its association with the inflammatory cytokines was investigated in jSLE patients. Results Our findings showed that miR-125a expression levels were significantly reduced in jSLE patients compared to normal controls ( p < 0.01) and these expression levels differed based on the clinical variability of patients. In addition, plasma levels of IL-17 and IFN-γ in jSLE patients were significantly higher than healthy controls ( p < 0.01). Finally, miR-125a expression had significant negative associations with each of SLEDAI-2K ( p < 0.01), SLICC ( p < 0.01), ESR ( p < 0.05), proteinuria ( p < 0.01) and IL-17 levels ( p < 0.01) in jSLE patients. Conclusion Our findings postulate that miR-125a could act as a candidate therapeutic target for its possible regulation of inflammation in jSLE patients.

scholarly journals Excited delirium syndrome from psychostimulant abuse can mimic a violent scene of death

2019 ◽  
Vol 9 (1) ◽  
Author(s):  
Shatishraj Jothee ◽  
Mohamed Swarhib Shafie ◽  
Faridah Mohd Nor
Keyword(s):  
Clinical Manifestations ◽  
The Body ◽  
Law Enforcement Agencies ◽  
Manner Of Death ◽  
Case Presentation ◽  
Excited Delirium ◽  
The Common ◽  
Violent Scene ◽  
Naked Body ◽  
Psychostimulant Abuse

Abstract Background Previous reported cases on excited delirium syndrome studied on the common clinical manifestations of the syndrome. The usual forensics implication for the syndrome is that death commonly is associated with restraint procedures by law enforcement agencies; however, not many cases reported highlights the difficulties in attributing a violent scene of death to the syndrome. Case presentation We present a case of a partially naked body found in an apartment unit under suspicious circumstances with multiple injuries. The scene of death was violent, and the body was found with blood wiped all over the floor and walls. Investigators believed a violent crime had occurred, and a suspect was reprimanded. However, upon autopsy, it was found that all injuries were superficially inflicted and were unlikely to have been part of an act of commission or caused his death. Internal examination found no remarkable pathology. Toxicology revealed a presence of psychostimulants, that is, methamphetamine, MDMA, and ethyl alcohol. Reconstruction of events by the witness, who was initially suspected of the ‘murder’, revealed that the injuries and his death could likely be explained by an episode of excited delirium. Conclusion The case highlights the challenges faced when attributing excited delirium syndrome as a cause of death. The syndrome can present with injuries from aggressive or bizarre behaviour, coupled with the destruction of property, which may confuse investigators on the possible manner of death.

Complex and irregular heart rate dynamics in fetuses compromised by maternal anemia as a high-risk pregnancy

2015 ◽  
Vol 43 (6) ◽  
Author(s):  
Young-Sun Park ◽  
Jeong-Kyu Hoh
Keyword(s):  
Heart Rate ◽  
High Risk ◽  
Approximate Entropy ◽  
Risk Groups ◽  
Adverse Outcomes ◽  
Maternal Anemia ◽  
Risk Pregnancy ◽  
Heart Rate Dynamics ◽  
Study Population ◽  
Normal Controls

AbstractTo examine how complex and irregular fetal heart rate (FHR) dynamics differ between fetuses of normal pregnancies and those of pregnancies complicated by maternal anemia (MA), and to place this in the context of high-risk pregnancies.Our study population consisted of 97 pregnant women affected by MA, 118 affected by pregnancy-induced hypertension (PIH), 88 affected by gestational diabetes mellitus (GDM), 53 with preterm premature rupture of membranes (pPROM), and 356 normal pregnancies as controls. We calculated approximate entropy (ApEn), sample entropy (SampEn), and correlation dimension (CD) to quantify irregularity and the chaotic dynamics of each FHR time series.The ApEn in the fetuses of the MA and PIH groups was significantly lower than that of the normal controls (P<0.05). The SampEn was significantly lower in the high-risk groups, except for the pPROM group, than in the normal controls (P<0.05). The CD in the PIH and severe MA groups was significantly lower than that of the normal controls (P<0.05, respectively). In the MA group, the dynamic indices showed a highly significant positive correlation with hemoglobin (Hb) levels (P<0.0001).The decreased complexity and/or irregularity in the FHR from pregnancies with MA may reflect abnormalities in the complex, integrated cardiovascular control. The irregularity and complexity of the FHR increased together with Hb levels in pregnancies with MA. Our data suggest that the integrity of the nervous system in the fetuses compromised by severe MA might result directly in adverse outcomes.

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