scholarly journals Brugada Syndrome Caused by Autonomic Dysfunction in Multiple Sclerosis

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Michel Ibrahim ◽  
Garly Saint-Croix ◽  
Rosario Colombo
Keyword(s):  
Multiple Sclerosis ◽  
Autonomic Dysfunction ◽  
Brugada Syndrome ◽  
Neurological Deficits ◽  
Type I ◽  
Increased Risk ◽  
Risk Of Falls ◽  
Balance Problems ◽  
Brugada Pattern

Only one case report has previously described a patient with multiple sclerosis and a type 1 Brugada pattern on the electrocardiogram. Patients with multiple sclerosis have several neurological deficits including sensory symptoms, acute or subacute motor weakness, gait disturbance, and balance problems that may lead to an increased risk of falls. Concurrent autonomic dysfunction and neurologic consequences of multiple sclerosis may precipitate both mechanical falls and falls with loss of consciousness. While mechanistically different, the type 1 Brugada pattern presents similarly with syncope due to an insufficient cardiac output during dysrhythmia. In such patients, intracardiac defibrillators have shown to prevent sudden cardiac death in patients with the Brugada syndrome. In light of these similarly presenting but unique clinical entities, MS patients who develop a syncopal event in the setting of a spontaneous type I Brugada pattern pose a diagnostic and therapeutic dilemma. This case illustrates an approach to the risks and benefits of an ICD placement in an MS patient with the type 1 Brugada pattern.

scholarly journals Ventricular fibrillation arrest due to Brugada syndrome in a COVID-19 patient with negative procainamide challenge: a case report

2021 ◽  
Author(s):  
Guangchen Zou ◽  
Mukul Khanna ◽  
Saliha Zahid ◽  
Samir Dengle ◽  
Bhavna Matta ◽  
...  
Keyword(s):  
Ventricular Fibrillation ◽  
Brugada Syndrome ◽  
Stress Test ◽  
Challenge Test ◽  
Exercise Stress Test ◽  
Exercise Stress ◽  
Type I ◽  
Icd Implantation ◽  
Brugada Pattern

Abstract Background Pharmacologic challenge test is often used to diagnose Brugada syndrome (BrS) when spontaneous ECGs do not show type I Brugada pattern but reported sensitivity varies. The role of exercise stress test in diagnosing Brugada syndrome is not well-established. Case Summary A patient had a type I Brugada pattern ECG during the recovery phase of exercise stress test but had a negative procainamide challenge test. He had a loop recorder implanted and later survived a ventricular fibrillation (VF) arrest provoked by COVID-19. ECG on arrival showed type 1 Brugada pattern. He was discharged after implantable cardioverter-defibrillator (ICD) implantation. He later underwent genetic testing and was found to be heterozygous for c.844C>G (p.Arg282Gly) mutation in the SCN5A gene. Discussion Type 1 Brugada pattern ECG may be unmasked by ST segment augmentation during recovery from exercise. Exercise stress test may play a role in diagnosis of Brugada syndrome when suspicion for Brugada syndrome remains after a negative procainamide challenge test or if the patient has exercise related symptoms. COVID-19 can unmask BrS and trigger a VF cardiac arrest.

P945What is the role of late-potentials determined by signal-averaged ECG in predicting flecainide provocative test in brugada pattern?

EP Europace ◽  
2020 ◽  
Vol 22 (Supplement_1) ◽  
Author(s):  
J Brito ◽  
N Cortez-Dias ◽  
N Nunes-Ferreira ◽  
I Aguiar-Ricardo ◽  
G Silva ◽  
...  
Keyword(s):  
Risk Stratification ◽  
Brugada Syndrome ◽  
Fold Increase ◽  
Diagnostic Study ◽  
Late Potentials ◽  
Qrs Complex ◽  
Provocative Test ◽  
Sudden Cardiac Death Risk ◽  
Brugada Pattern

Abstract Introduction The sudden cardiac death risk in Brugada Syndrome (BrS) is higher in patients with spontaneous type 1 pattern. Brugada diagnosis is also established in patients with induced type 1 morphology after provocative test with intravenous administration with a sodium blocker channel. Nevertheless, this group of patients is known to be at a lower risk of SCD, and their risk stratification is still a matter of discussion.  Late potentials (LP) detected on signal-averaged ECG (SAECG) on the RVOT have been previously proposed as a predictor factor for BrS, even though data is lacking on its value. Purpose To evaluate the association between positive LP (LMS40> 38ms) on SAECG with modified Brugada leads and a positive flecainide test in patients with non-type 1 BrS. Methods Retrospective single-center study of non-type 1 BrS patients referred for the performance of a flecainide provocative test. Patients presenting with spontaneous type 1 morphology were excluded from the study. Study of LP on SAECG with modified leads for Brugada were evaluated before administration of flecainide [2mg/kg (maximum150mg), for 10minutes] with determination of filtered QRS duration (fQRS), root mean square voltage of the last 40ms of the QRS complex (RMS40) and duration of low amplitude signals <40μV of the terminal QRS complex (LMS40). Results 126 patients (47.3 ± 14.1 years, 61.9% males) underwent study with LP SAECG and flecainide test. Among these patients, 7.9% were symptomatic and 16.7% had familiar history of BrS. Flecainide test was positive in 46.8% of patients. In patients with a positive flecainide test, 64.4% presented LMS40 > 38ms whereas LMS40 > 38ms was present in only 46% of those with a negative flecainide test (p = 0.031). The presence of positive LMS40 was a positive predictor for a positive flecainide test, associated with a two-fold increase likelihood in the induction of a Brugada pattern (OR: 2,12; IC95% 1,025-4,392; P = 0,043). There was no association between fQRS or RMS40 and a positive flecainide test (p = NS). fQRS > 114ms and RMS40 <20uV was present in 22% and 61% of patients with a positive flecainide test, respectively. Conclusion In patient with non-type 1 Brugada syndrome, LMS40 > 38ms in SAECG was a predictor for a positive flecainide test, suggesting that this finding could be helpful on the risk stratification of patients undergoing diagnostic study for Brugada syndrome. Abstract Figure. Effect of LMS 40 in flecainide test

scholarly journals Influence of fibrillin-1 genotype on aortic stiffness in men: a note of caution

2006 ◽  
Vol 100 (4) ◽  
pp. 1431-1432
Author(s):  
Yasmin ◽  
Ian B. Wilkinson ◽  
Kevin M. O’Shaughnessy
Keyword(s):  
Mechanical Properties ◽  
Pulse Pressure ◽  
Aortic Stiffness ◽  
Collagen Type ◽  
Collagen Type I ◽  
Type I ◽  
Increased Risk ◽  
Fibrillin 1 ◽  
Echo Tracking

Aortic stiffness is a predictor of cardiovascular mortality. The mechanical properties of the arterial wall depend on the connective tissue framework, with variation in fibrillin-1 and collagen I genes being associated with aortic stiffness and/or pulse pressure elevation. The aim of this study was to investigate whether variation in fibrillin-1 genotype was associated with aortic stiffness in men. The mechanical properties of the abdominal aorta of 79 healthy men (range 28–81 yr) were investigated by ultrasonographic phase-locked echo tracking. Fibrillin-1 genotype, characterized by the variable tandem repeat in intron 28, and collagen type I alpha 1 genotype characterized by the 2,064 G\?\T polymorphism, were determined by using DNA from peripheral blood cells. Three common fibrillin-1 genotypes, 2-2, 2-3, and 2-4, were observed in 50 (64%), 10 (13%), and 11 (14%) of the men, respectively. Those of 2-3 genotype had higher pressure strain elastic modulus and aortic stiffness compared with men of 2-2 or 2-4 genotype ( P = 0.005). Pulse pressure also was increased in the 2-3 genotype ( P = 0.04). There was no significant association between type 1 collagen genotype and aortic stiffness in this cohort. In conclusion, the fibrillin-1 2-3 genotype in men was associated with increased aortic stiffness and pulse pressure, indicative of an increased risk for cardiovascular disease.

scholarly journals Glioblastoma Multiforme in the Posterior Cranial Fossa in a Patient with Neurofibromatosis Type I

2009 ◽  
Vol 2009 ◽  
pp. 1-4 ◽  
Author(s):  
Marike L. D. Broekman ◽  
Roelof Risselada ◽  
JooYeon Engelen-Lee ◽  
Wim G. M. Spliet ◽  
Bon H. Verweij
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
High Grade ◽  
High Grade Astrocytoma ◽  
Increased Risk ◽  
Pilocytic Astrocytomas ◽  
Benign Nature ◽  
Cranial Fossa ◽  
The Brain

Patients with Neurofibromatosis type 1 (NF1) have an increased risk of developing neoplasms. The most common brain tumors, found in 15%–20% of NF1 patients, are hypothalamic-optic gliomas, followed by brainstem and cerebellar pilocytic astrocytomas. These tumors generally have a benign nature. NF1 patients are predisposed to a 5-fold increased incidence of high-grade astrocytomas, which are usually located in supratentorial regions of the brain. We present an NF1 patient who developed a high-grade astrocytoma in the posterior fossa and discuss possible pathophysiological mechanisms.

scholarly journals Functional Bowel Disorders in Patients with Brugada Syndrome and Drug-Induced Type 1 Brugada Pattern

2020 ◽  
Author(s):  
Anil Sarica ◽  
Serhat Bor ◽  
Mehmet Orman ◽  
Hector Barajas-Martinez ◽  
Jimmy Juang ◽  
...  
Keyword(s):  
Brugada Syndrome ◽  
Control Group ◽  
Functional Bowel Disorders ◽  
Drug Induced ◽  
Co Morbidity ◽  
History Of ◽  
Bowel Disorders ◽  
Or History ◽  
Brugada Pattern

Introduction: Irritable bowel syndrome (IBS) is one of the most widely recognized functional bowel disorders (FBDs) with a genetic component. SCN5A gene and SCN1B loci have been identified in population-based IBS cohorts and proposed to have a mechanistic role in the pathophysiology of IBS. These same genes have been associated with Brugada syndrome (BrS). The present study examines the hypothesis that these two inherited syndromes are linked. Methods and Results: Prevalence of FBDs over a 12 months period were compared between probands with BrS/drug-induced type 1 Brugada pattern (DI-Type1 BrP) (n=148) and a control group (n=124) matched for age, female sex, presence of arrhythmia and co-morbid conditions. SCN5A/SCN1B genes were screened in 88 patients. Prevalence of IBS was 25% in patients with BrS/DI-Type1 BrP and 8.1% in the control group (p=2.34×10−4). On stepwise logistic regression analysis, presence of current and/or history of migraine (OR of 2.75; 95% CI: 1.08 to 6.98; p=0.033) was a predictor of underlying BrS/DI-Type1 BrP among patients with FBDs. We identified 8 putative SCN5A/SCN1B variants in 7 (12.3%) patients with BrS/DI-Type1 BrP and 1 (3.2%) patient in control group. Five out of 8 (62.5%) patients with SCN5A/SCN1B variants had FBDs. Conclusion: IBS is a common co-morbidity in patients with BrS/DI-Type1 BrP. Presence of current and/or history of migraine is a predictor of underlying BrS/DI-Type1 BrP among patients with FBDs. Frequent co-existence of IBS and BrS/DI-Type1 BrP necessitates cautious use of certain drugs among the therapeutic options for IBS that are known to exacerbate the Brugada phenotype.

P6582Control and stability theory, modelling ventricular dynamics in superficial 12-lead ECG as a novel contribution to non-invasive risk stratification of Brugada ECG patterns(?)

2019 ◽  
Vol 40 (Supplement_1) ◽  
Author(s):  
A Sabatini
Keyword(s):  
Risk Stratification ◽  
Brugada Syndrome ◽  
Stability Theory ◽  
Cardiac Conduction ◽  
Polymorphic Ventricular Tachycardia ◽  
Ecg Signal ◽  
Stability Parameters ◽  
Poles And Zeros ◽  
Brugada Pattern

Abstract Background Brugada syndrome (BrS) risk stratification in asymptomatic subjects is still currently the most important yet unresolved clinical problem to determine the subset of patients with BrS requiring ICD implantation. The underlying pathophysiological mechanisms responsible for BrS ECG patterns remain unknown, as well as the mechanisms of the sudden onset of polymorphic ventricular tachycardia which leads to ventricular fibrillation and sudden cardiac death (SCD). Purpose This study aims to analyze from a totally alternative perspective, superficial 12-lead ECG signals. It departs from the numerous and various attempts to characterize and measure single morphology of specific and individual ECG segments, intervals and waves, rather focusing on and studying the dynamics and stability of the superficial 12-lead ECG signal as a whole to determine stability parameters able to contribute to BrS ECG pattern risk stratification and differential diagnosis of BrS. Methods A quantitative stability control closed loop system has been designed to model the electrophysiology dynamics of the cardiac conduction system with a 12-lead superficial ECG signal being the input and output of the system (Fig. 1). A normal ECG signal and a type-1 coved Brugada pattern ECG-V2 portion have been scanned, digitized and quantitatively processed to obtain stability parameters (poles and zeros in the S-plane). Scanning was performed by Digitizeit – Digital River GmbH. Processing in the S-plane was performed by ©2019 Wolfram Demonstrations Project & Contributors, http://demonstrations.wolfram.com/, poles and zeros and Microsoft Excel software was also used. Results Poles and zeros of the system for type-1 coved Brugada pattern ECG-V2 and for the normal ECG-V2 are shown in Fig. 2, together with stability. Conclusions Based on our data, 1. It appears that portions of the ECG patterns, approximated by mathematical continuous time models representing, at the infinitesimal limit, every possible pattern and behaviors of an ECG signal, such as repolarization patterns, may exhibit interesting dynamics characteristics of stability and can be stratified as stable, marginally stable or unstable. 2. Such a classification may then be implemented to risk stratify repolarization patterns. When tending to instability, such patterns seem to be associated to high risk repolarization patterns such as BrS coved type-1 pattern, hence indicating higher risk of developing polymorphic VT or SCD. In conclusion, more work will be needed to further this methodology to improve the understanding of the effects of the various physiological and pathological substrates involved with malignant arrhythmias and to improve risk stratification strategies to determine the subset of patients with Brugada syndrome requiring ICD insertion. Control systems and stability theory may indeed indicate an interesting and effective procedure for future work.

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.

Gastrointestinal stromal tumor associated with neurofibromatosis type I.

2013 ◽  
Vol 31 (15_suppl) ◽  
pp. 10539-10539
Author(s):  
Toshirou Nishida ◽  
Tsuyoshi Takahashi ◽  
Mari Kaneda ◽  
Maiko Ako ◽  
Takeshi Omori ◽  
...  
Keyword(s):  
Neurofibromatosis Type ◽  
Type I ◽  
Short Term ◽  
Distinctive Features ◽  
Increased Risk ◽  
Nf1 Gene ◽  
Normal Intestine ◽  
Single Lesion

10539 Background: Most gastrointestinal stromal tumors (GIST) have either KIT or PDGFRA mutations. Neurofibromatosis type 1 pts caused by mutations in the NF1 gene have increased risk of GIST development, which may have no mutation in both genes. In this study, we analyzed clinical and pathological features of NF-1 associated GISTs. Methods: Study 1: We have screened 95 adults NF1 pts (age 31-66, 35 male and 60 female) by enhanced MDCT between 2003 and 2012. Study 2: We collected 1,184 sporadic GISTs from community hospitals in Japan between 2001 and 2010 retrospectively, and found 24 primary NF1-GISTs (1.7% of sporadic) and 2 recurrent NF1-GISTs, of whom clinicopathological features were analyzed. Results: Study1: By MDCT screening, we have found histologically confirmed 6 GISTs (4 males and 2 female; 6/1,000 NF1-persons/year) in the small intestine. Median age of NF1-GIST was 45, and five pts had multiple tumors, ICC hyperplasia in the normal intestine and no mutation in the KIT and PDGFRA genes. Study 2: Median age of 26 NF1-GIST (12 male and 14 female) was 58. 25 GISTs were located in the small bowel and one in the stomach. 17 pts had multiple GISTs and 9 pts single lesion. Pathologically, KIT was positive for all NF1-GISTs. 24 pts had spindle cell tumors and 2 had mixed or epithelioid. No mutation was found in the KIT and PDGFRA genes of 11 pts examined. Median values of mitosis (0/50HPF) and Ki67 (0.5%) were lower than those of sporadic GIST (3/50HPF and 2.5%). With media follow-up of 3.6 years, 8 pts had recurrences and 4 pts died of the disease. By western blotting, KIT was faintly phosphorylated but its downstream kinases including MEK, p44/22, AKT, mTOR, p38 and STAT3, were activated. Six pts received imatinib and had no response and, subsequently, 5 pts received sunitinib with 4 PD and 1 short-term SD. Conclusions: NF1-associated GIST is a rare entity of GIST and has distinctive features from conventional sporadic GISTs. KIT-targeted TKI appeared to be ineffective to recurrent and advanced NF1-GISTs.

Ingested Type I Interferon: State of the Art as Treatment for Autoimmunity

2002 ◽  
Vol 227 (11) ◽  
pp. 981-988 ◽  
Author(s):  
Staley A. Brod
Keyword(s):  
Rheumatoid Arthritis ◽  
Multiple Sclerosis ◽  
Clinical Trials ◽  
Type 1 Diabetes ◽  
Phase I ◽  
Phase I Trial ◽  
Type I Interferon ◽  
Type I ◽  
Ifn Γ

We have proposed a unifying hypothesis of the etiopathogenesis of autoimmunity that defines autoimmunity as a type I interferon (IFN) immunodeficiency syndrome. We have examined toxicity and potential efficacy in three phase I (type 1 diabetes, rheumatoid arthritis, multiple sclerosis) and one phase II clinical trials in multiple sclerosis. In a phase I open-label trial in type 1 diabetes, ingested IFN-α preserved residual β-cell function in recent onset patients. In a second phase I trial, treatment of rheumatoid arthritis with ingested IFN-α reduced the secretion of interleukin (IL)-1, a pro-inflammatory cytokine. In a third phase I trial in multiple sclerosis, there was a significant decrease in peripheral blood mononuclear cell IL-2 and IFN-γ production after ingesting IFN-α. In a phase II randomized, placebo-controlled, double-blind trial in multiple sclerosis, 10,000 IU ingested IFN-α significantly decreased gadolinium enhancements compared with the placebo group at month 5. Tumor necrosis factor-α and IFN-γ cytokine secretion in the 10,000 IU group at month 5 showed a significant decrease that corresponded with the effect of ingested IFN-α on decreasing gadolinium enhancements. Ingested IFN-α was not toxic in any of these clinical trials. These studies suggest that ingested IFN-α may have a potential role in the treatment of autoimmunity.

scholarly journals Platelet Activation and Platelet–Leukocyte Aggregates in Type I Diabetes Mellitus

2018 ◽  
Vol 24 (9_suppl) ◽  
pp. 230S-239S ◽  
Author(s):  
Asmaa M. Zahran ◽  
Omnia El-Badawy ◽  
Ismail L. Mohamad ◽  
Deiaaeldin M. Tamer ◽  
Safwat M. Abdel-Aziz ◽  
...  
Keyword(s):  
Platelet Activation ◽  
Type I Diabetes ◽  
Low Density Lipoprotein ◽  
Density Lipoprotein ◽  
Control Group ◽  
Type I ◽  
Platelet Activity ◽  
Increased Risk

Hyperglycemia alone may not explain the increased risk of cardiovascular diseases (CVDs) in patients with type 1 diabetes (T1D) compared with type 2. This study emphases on the evaluation of some platelet activity markers in patients with T1D, with relevance to some metabolic disorders as hyperlipidemia and hyperglycemia. This study was performed on 35 patients with T1D and 20 healthy controls. All participants were subjected to full history taking, clinical examination and assay of glycated hemoglobin (HbA1c), and lipid profile. The expression of CD62P and CD36 on platelets and the frequency of platelet–monocyte, and platelet–neutrophil aggregates were assessed by flow cytometry. Patients showed significantly higher expression of CD62P and CD36 than the control group. Platelets aggregates with monocytes were also higher among patients than the control group. Levels of CD36+ platelets, CD62P+ platelets, and platelet–monocyte aggregates revealed significant correlations with the levels of HbA1c, total cholesterol, low-density lipoprotein, and triglycerides. Hyperlipidemia and hyperglycemia accompanying T1D have a stimulatory effect on platelet activation which probably makes those patients vulnerable to CVD than nondiabetics.

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