Brugada syndrome in the paediatric population: a comprehensive approach to clinical manifestations, diagnosis, and management

2016 ◽  
Vol 26 (6) ◽  
pp. 1044-1055 ◽  
Author(s):  
M. Cecilia Gonzalez Corcia ◽  
Carlo de Asmundis ◽  
Gian-Battista Chierchia ◽  
Pedro Brugada
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Sinus Node ◽  
Adult Population ◽  
Clinical Manifestations ◽  
Paediatric Population ◽  
Cardiac Conduction ◽  
Management Approach ◽  
Hormonal Changes ◽  
Increased Risk

AbstractBrugada syndrome is an inherited arrhythmogenic disorder, characterised by coved-type ST-segment elevation in the right precordial leads, and is associated with increased risk of sudden death. It is genetically and clinically heterogeneous, presenting typically in the fourth or fifth decade of life. The prevalence of Brugada syndrome in the paediatric population is low compared with the adult population. Interestingly, over the last several years, there has been growing evidence in the literature of onset of the disease during childhood. Most of the paediatric cases reported in the literature consist of asymptomatic Brugada syndrome; however, some patients manifest the disease at different regions of the cardiac conduction system at a young age. Early expression of the disease can be affected by multiple factors, including genetic substrate, hormonal changes, and still unknown environmental exposures. The initial manifestation of Brugada syndrome in children can include sinus node dysfunction and atrial arrhythmias. Brugada syndrome can also manifest as ventricular arrhythmias leading to sudden death at an early age. In symptomatic children, performance of the ajmaline test by an experienced team can be safely used as a diagnostic tool to unmask latent Brugada syndrome. Defining indications for an implantable cardioverter defibrillator in children with the diagnosis of Brugada syndrome remains challenging. Given the rarity of the syndrome in children, most paediatric cardiologists will only rarely see a young patient with Brugada syndrome and there is still no universal consensus regarding the optimal management approach. Care should be individualised according to the specific clinical presentation, taking into account the family history, genetic data, and the family’s specific preferences.

A case of Brugada syndrome with significant lesions in the sinus node : autopsy findings in a sudden death case

2005 ◽  
Vol 25 (Suppl4) ◽  
pp. 27-30
Author(s):  
Shin-ichiro Morimoto ◽  
Akihisa Uemura ◽  
Shinya Hiramitsu ◽  
Masatsugu Ohtsuki ◽  
Shigeru Kato ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Sinus Node ◽  
Autopsy Findings ◽  
Death Case

The Brugada Syndrome as a Cause of Sudden Death. Diagnostics and Clinical Manifestations in Children

Kardiologiia ◽  
2016 ◽  
Vol 10_2016 ◽  
pp. 63-71
Author(s):  
I.M. Miklashevich Miklashevich ◽  
M.A. Shkolnikova Shkolnikova ◽  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Clinical Manifestations

scholarly journals Most common arrhytmias in patients with spinal cord injury

2021 ◽  
Author(s):  
Gabriel Andreata Brandão ◽  
Vinícius Andreata Brandão ◽  
Lucas Dalvi Armond Rezende ◽  
Kelly Eduarda de Jesus Silva ◽  
Bruno Henrique Fiorin
Keyword(s):  
Spinal Cord ◽  
Spinal Cord Injury ◽  
Spinal Cord Injuries ◽  
Sinus Node ◽  
Clinical Manifestations ◽  
Autonomic Dysreflexia ◽  
Cardiac Conduction ◽  
Conduction Disorders ◽  
Cord Injury ◽  
Touch Sensitivity

Introduction: The spinal cord injury is a public heatlh problem, and it can have three different origens: traumatic, compressive and congenital. The consequences are partial or total insufficiency of the spinal cord due to the interruption of motor and sensory nervous tracts. This injury results in clinical manifestations such as: autonomic dysreflexia, conduction disorders and loss of pain and touch sensitivity. Objectives: To describe the main cardiac conduction disorders on patients with spinal cord injury trough the guiding question: “What are the most common arrhytmic disorders in patients with spinal cord injury?” Methods: A integrative review was made in the MEDLINE and LILACS databases combining the MeSH descriptors: ‘Arrhytmias, cardiac” and “Spinal cord injuries”. Furthermore, the inclusion criteria was articles produced in the past ten years that answer the guiding question. Results: After na analysis, 6 out of 15 articles were selected to compound this review. The main disorders founded were tachycardia, sinus node dysfunction, atrial and ventricular fibrillation and bradychardia, the most founded disorder. There was also descripted the possibility for these patients to envolve into a distributive choque. Conclusion: Bradycardia was the main arrhythmic impairment found in patients with spinal cord injury, followed by ventricular and atrial fibrillation and tachycardia, with the severity of bradyarrhythmias being associated with the level and severity of the spinal cord injury

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.

Comparable clinical characteristics in Brugada syndrome patients harboring SCN5A or novel SCN10A variants

EP Europace ◽  
2019 ◽  
Vol 21 (10) ◽  
pp. 1550-1558 ◽  
Author(s):  
Michelle M Monasky ◽  
Emanuele Micaglio ◽  
Gabriele Vicedomini ◽  
Emanuela T Locati ◽  
Giuseppe Ciconte ◽  
...  
Keyword(s):  
Sudden Death ◽  
Brugada Syndrome ◽  
Clinical Characteristics ◽  
Inherited Disease ◽  
Future Studies ◽  
Increased Risk ◽  
Arrhythmogenic Substrate ◽  
History Of ◽  
Generation Sequencing

Abstract Aims The Brugada syndrome (BrS) is an inherited disease associated with an increased risk of sudden cardiac death. Often, the genetic cause remains undetected. Perhaps due at least in part because the NaV1.8 protein is expressed more in both the central and peripheral nervous systems than in the heart, the SCN10A gene is not included in diagnostic arrhythmia/sudden death panels in the vast majority of cardiogenetics centres. Methods and results Clinical characteristics were assessed in patients harboring either SCN5A or novel SCN10A variants. Genetic testing was performed using Next Generation Sequencing on genomic DNA. Clinical characteristics, including the arrhythmogenic substrate, in BrS patients harboring novel SCN10A variants and SCN5A variants are comparable. Clinical characteristics, including gender, age, personal history of cardiac arrest/syncope, spontaneous BrS electrocardiogram pattern, family history of sudden death, and arrhythmic substrate are not significantly different between probands harboring SCN10A or SCN5A variants. Conclusion Future studies are warranted to further characterize the role of these specific SCN10A variants.

scholarly journals Venous Thrombosis could be Gender Specific, Women Beware!

2019 ◽  
Vol 69 (5) ◽  
pp. 503-509
Author(s):  
Swati Srivastava ◽  
Iti Garg ◽  
Lilly Ganju ◽  
Bhuvnesh Kumar
Keyword(s):  
Venous Thrombosis ◽  
Clinical Manifestations ◽  
Signs And Symptoms ◽  
Normal Pregnancy ◽  
Hormonal Changes ◽  
Activity Increase ◽  
Vein Thrombosis ◽  
Increased Risk ◽  
Post Menopausal ◽  
Flow Stasis

Venous thrombosis (VT) is the third major cause of mortality in the world after heart attack and stroke. Its two major clinical manifestations are deep vein thrombosis (DVT) and pulmonary embolism (PE) which are serious medical conditions but often remain under-diagnosed. Although rate of occurrence of venous thrombosis in men is slightly higher, a number of studies have pointed out that woman poses higher risk of venous thromboembolism (VTE) compared to men at various stages of life. Risk of VTE increases in women’s life particularly with use of oral contraceptives, during pregnancy and with exogenous administration of hormones like in post-menopausal hormone therapy. Various reports show that these factors increase risk of DVT and PE by several folds. DVT is considered as an important cause of maternal death in western countries. It is often asymptomatic and its signs and symptoms are similar to those of normal pregnancy. The hormonal changes at various stages of life and less physical activity increase the risk of VTE by blood flow stasis. It is extremely important for women to know the stages of life when they are prone to develop VTE, about its prevention and treatment. Detailed studies on differences in clinical manifestations of VTE between men and women are lacking. This review focusses on assessing the increased risk of VTE and its prognosis in women based on available literature.

scholarly journals Lack of Influence of the Androgen Receptor Gene CAG-Repeat Polymorphism on Clinical and Electrocardiographic Manifestations of the Brugada Syndrome in Man

2012 ◽  
Vol 6 ◽  
pp. CMC.S10553 ◽  
Author(s):  
S. Mariani ◽  
B. Musumeci ◽  
S. Basciani ◽  
D. Fiore ◽  
P. Francia ◽  
...  
Keyword(s):  
Androgen Receptor ◽  
Brugada Syndrome ◽  
Clinical Manifestations ◽  
Cag Repeat ◽  
Cag Repeats ◽  
Sex Hormone Binding Globulin ◽  
Blood Levels ◽  
Repeat Polymorphism ◽  
Male Predominance ◽  
Increased Risk

Background Clinical studies suggest that testosterone (T) plays an important role in the male predominance of the clinical manifestations of the Brugada syndrome (BS). However, no statistically significant correlations have been observed between T levels and electrocardiogram (ECG) parameters in the BS patients. We investigated whether the hormonal pattern and the variation within CAG repeat polymorphism in exon 1 of the androgen receptor (AR) gene, affecting androgen sensitivity, are associated with the Brugada ECG phenotype in males. Methods and Results 16 male patients with BS (mean age 45.06 ± 11.3 years) were studied. 12-lead ECG was recorded. Blood levels of follicle-stimulating hormone, luteinizing hormone, prolactin, testosterone, free-T, dihydrotestosterone, 17-β-estradiol, estrone, 3-alpha-androstanediol-glucuronide, delta-4-androstenedione, dehydroepiandrosterone sulphate, progesterone, 17-hydroxyprogesterone, and sex hormone binding globulin were assayed. Genotyping of CAG repeats on DNA extracted from leukocytes was carried out. No relationship was found between hormone values and ECG parameters of BS. BS patients showed the CAG length normally recognized in the human polymorphism range and the number of CAG repeats did not correlate with the ECG pattern of BS. Conclusions The AR CAG repeat length does not correlate with the ECG features of the patients affected by BS. The search for genes downstream AR activation as possibly responsible for the increased risk of spontaneous arrhythmias in BS males after puberty is warranted.

scholarly journals CLINICAL AND PROGNOSTIC VALUE OF EXTRASYSTOLIC ARRHYTHMIA IN PREGNANT WOMEN WITHOUT STRUCTURAL HEART DAMAGE

2020 ◽  
Author(s):  
O. Vinogradova ◽  
◽  
F. Rakhmatullov ◽  
M. Ostanin ◽  
D. Bocharnikov ◽  
...  
Keyword(s):  
Pregnant Women ◽  
Sinus Node ◽  
Plasma Concentrations ◽  
Prognostic Significance ◽  
Atrioventricular Node ◽  
Cardiac Conduction ◽  
Hormonal Changes ◽  
Ventricular Extrasystole ◽  
Circulating Blood Volume ◽  
Heart Damage

Pregnancy is accompanied by physiological hemodynamic changes (an increase in circulating blood volume, stroke volume, cardiac output, heart rate), autonomic (an increase in plasma concentrations of catecholamines, an increase in the sensitivity of adrenergic receptors) and hormonal changes (an increase in the synthesis of estrogen, progesterone, prostaglandins, reninogen, angiotensin) ... All this can contribute to a change in the excitability, automatism and refractoriness of the myocardium, lead to the development and / or an increase in its electrophysiological inhomogeneity and, thus, provoke and / or aggravate the course of an already existing arrhythmia. This article will consider the relevance of the problem of the clinical and prognostic significance of extrasystolic arrhythmia in pregnant women without structural heart damage. The goal of increasing the efficiency of predicting the course of ventricular extrasystole without structural heart lesions in pregnant women at various periods of gestation in terms of thyroid and cardiovascular hormones will be proposed. The study of indicators of pregnancy hormones in pregnant women at different gestational periods with ventricular extrasystole without structural heart damage, the study of indicators of the sinus node, atrioventricular node and refractory periods of the cardiac conduction system in pregnant women is an urgent issue for research at the present time.

scholarly journals Left Bundle Branch Pacing: Current Knowledge and Future Prospects

2021 ◽  
Vol 8 ◽  
Author(s):  
Peng Liu ◽  
Qiaozhu Wang ◽  
Hongke Sun ◽  
Xinghua Qin ◽  
Qiangsun Zheng
Keyword(s):  
Success Rate ◽  
Randomized Clinical Trials ◽  
Current Knowledge ◽  
Biventricular Pacing ◽  
Sinus Node ◽  
Left Ventricular ◽  
Cardiac Conduction ◽  
Cardiac Resynchronization ◽  
Implantation Technique ◽  
Increased Risk

Cardiac pacing is an effective therapy for treating patients with bradycardia due to sinus node dysfunction or atrioventricular block. However, traditional right ventricular apical pacing (RVAP) causes electric and mechanical dyssynchrony, which is associated with increased risk for atrial arrhythmias and heart failure. Therefore, there is a need to develop a physiological pacing approach that activates the normal cardiac conduction and provides synchronized contraction of ventricles. Although His bundle pacing (HBP) has been widely used as a physiological pacing modality, it is limited by challenging implantation technique, unsatisfactory success rate in patients with wide QRS wave, high pacing capture threshold, and early battery depletion. Recently, the left bundle branch pacing (LBBP), defined as the capture of left bundle branch (LBB) via transventricular septal approach, has emerged as a newly physiological pacing modality. Results from early clinical studies have demonstrated LBBP's feasibility and safety, with rare complications and high success rate. Overall, this approach has been found to provide physiological pacing that guarantees electrical synchrony of the left ventricle with low pacing threshold. This was previously specifically characterized by narrow paced QRS duration, large R waves, fast synchronized left ventricular activation, and correction of left bundle branch block. Therefore, LBBP may be a potential alternative pacing modality for both RVAP and cardiac resynchronization therapy with HBP or biventricular pacing (BVP). However, the technique's widespread adaptation needs further validation to ascertain its safety and efficacy in randomized clinical trials. In this review, we discuss the current knowledge of LBBP.

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