Materiały źródłowe

• #1 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Brugada syndrome is an inherited channelopathy, characterized by large J-waves and coved ST elevation with associated T-wave inversion in leads V1-V3, that causes an increased risk of ventricular tachycardia (VT) and ventricular fibrillation (VF), leading to syncope and sudden death. […] Overall the incidence of Brugada syndrome is approximately 5 in 10,000 but shows wide variation with ethnicity and, consequently geographical region, being highest is Southeast Asia (37 in 10,000), the Middle East (18/10,000), and the rest of Asia (17 in 10,000) and much lower in Europe (1/10,000) and North America (0.5/10,000). […] Brugada syndrome results from mutations that decrease inward sodium or calcium currents or increase early outward potassium currents. […] These abnormalities lead to early loss of the action potential plateau, particularly in the epicardial cells of the right ventricular outflow tract that produce characteristic right precordial ECG changes and a propensity to ventricular tachyarrhythmias.

• #2 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. […] So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. […] The etiology of BrS is multifactorial, involving genetic, environmental, and hormonal components that contribute to its phenotype manifestation. […] Brugada syndrome is a disease with an autosomal dominant pattern of transmission. […] In 1998, the first pathogenic mutation in the SCN5A gene was identified. […] Since then, more than 350 pathogenic mutations in several genes have been published (SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C, CACNB2B, CACNA2D1, and TRPM4).

• #3 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. […] So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. […] The etiology of BrS is multifactorial, involving genetic, environmental, and hormonal components that contribute to its phenotype manifestation. […] Brugada syndrome is a disease with an autosomal dominant pattern of transmission. […] In 1998, the first pathogenic mutation in the SCN5A gene was identified. […] Since then, more than 350 pathogenic mutations in several genes have been published (SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C, CACNB2B, CACNA2D1, and TRPM4).

• #4 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #5 Brugada Syndrome: Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/16813-brugada-syndrome

  Brugada syndrome causes include an unknown cause or a genetic one. About 70% of people with Brugada syndrome dont have a known genetic mutation. […] Some people have a genetic variation in one of 18 or more genes, most often in SCN5A. These variations interfere with heartbeat signal conduction in your heart. […] It only takes one copy of an affected gene from one parent to inherit Brugada syndrome. Any child of someone with a Brugada-related gene variation has a 50% chance of having it, too.

• #6 Brugada Syndrome | UCSF Cardiology

  https://ucsfhealthcardiology.ucsf.edu/brugada-syndrome

  Brugada syndrome is a genetic condition that causes abnormal heart rhythms (arrhythmias). […] The abnormal heart rhythms in Brugada syndrome are due to genetic differences in the electrical system that controls the heart rhythm. Several different genes have been associated with Brugada syndrome but these genes only are responsible for about a quarter of families with the condition. […] Brugada syndrome is usually inherited in an autosomal dominant manner. This means that each child of a parent with Brugada syndrome has a 50% chance of inheriting the genetic mutation associated with Brugada. […] Many people who inherit the genetic mutation never have any health problems related to Brugada syndrome. Family members who carry the genetic mutation associated with Brugada syndrome undergo an evaluation to determine their risk for serious arrhythmias. […] Genetic testing can be done to try to identify the genetic mutation causing Brugada syndrome to confirm the diagnosis and so other family members can have genetic testing to determine their risk.

• #7 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #8 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. […] So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. […] The etiology of BrS is multifactorial, involving genetic, environmental, and hormonal components that contribute to its phenotype manifestation. […] Brugada syndrome is a disease with an autosomal dominant pattern of transmission. […] In 1998, the first pathogenic mutation in the SCN5A gene was identified. […] Since then, more than 350 pathogenic mutations in several genes have been published (SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C, CACNB2B, CACNA2D1, and TRPM4).

• #9 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #10 Brugada syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/brugada-syndrome/

  Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart’s normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome. […] Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart’s normal rhythm.

• #11 Brugada syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/brugada-syndrome/

  Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart’s normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome. […] Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart’s normal rhythm.

• #12 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. […] So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. […] The etiology of BrS is multifactorial, involving genetic, environmental, and hormonal components that contribute to its phenotype manifestation. […] Brugada syndrome is a disease with an autosomal dominant pattern of transmission. […] In 1998, the first pathogenic mutation in the SCN5A gene was identified. […] Since then, more than 350 pathogenic mutations in several genes have been published (SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C, CACNB2B, CACNA2D1, and TRPM4).

• #13 Brugada syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/brugada-syndrome/

  Brugada syndrome can be caused by mutations in one of several genes. The most commonly mutated gene in this condition is SCN5A, which is altered in approximately 30 percent of affected individuals. This gene provides instructions for making a sodium channel, which normally transports positively charged sodium atoms (ions) into heart muscle cells. This type of ion channel plays a critical role in maintaining the heart’s normal rhythm. Mutations in the SCN5A gene alter the structure or function of the channel, which reduces the flow of sodium ions into cells. A disruption in ion transport alters the way the heart beats, leading to the abnormal heart rhythm characteristic of Brugada syndrome. […] Mutations in other genes can also cause Brugada syndrome. Together, these other genetic changes account for less than two percent of cases of the condition. Some of the additional genes involved in Brugada syndrome provide instructions for making proteins that ensure the correct location or function of sodium channels in heart muscle cells. Proteins produced by other genes involved in the condition form or help regulate ion channels that transport calcium or potassium into or out of heart muscle cells. As with sodium channels, proper flow of ions through calcium and potassium channels in the heart muscle helps maintain a regular heartbeat. Mutations in these genes disrupt the flow of ions, impairing the heart’s normal rhythm.

• #14 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #15 Brugada syndrome: clinical and genetic findings | Genetics in Medicine

  https://www.nature.com/articles/gim201535

  More than 250 pathogenic variations associated with BrS have been reported in 18 different genes, which primarily encode for sodium, potassium, and calcium channels, or proteins associated with these channels. […] Pathogenic variations in genes encoding desmosomal proteins have also been associated with BrS. […] Despite these ongoing developments in understanding the genetic causes of BrS, only 30-35% of clinically diagnosed cases are genetically diagnosed, and most of these (25-30%) result from pathogenic alterations in SCN5A. […] The remaining BrS cases are attributable to alterations in one of the other known BrS-associated genes. […] Several pathogenic variations in three genes (SCN1B, SCN2B, SCN3B) encoding subunits of the Nav1.5 sodium channel have been discovered to modify the function of the channel (increasing or decreasing INa). […] Gain-of-function pathogenic variants in the KCND3-encoded Kv4.3 potassium channel are implicated in the pathogenesis and phenotypic expression of BrS, inducing lethal arrhythmia that has been precipitated by a genetically enhanced Ito current gradient within the right ventricle.

• #16 Brugada Syndrome: Focus for the General Pediatrician

  https://www.mdpi.com/2227-9067/11/3/281

  The genetic basis of Brugada Syndrome has been demonstrated since 1998, when an association between symptoms and a loss of function of the SCN5A gene, present in 20–25% of patients, was described. […] Over the years, several other genes mutated in Brugada Syndrome patients have been identified: some coding for Na+ channels, some for K+ channels, and others for Ca2+; however, only variants of the SCN5A gene are considered pathogenic to date. […] Furthermore, over the years, the idea has been that Brugada Syndrome can follow a more complex polygenic inheritance: it could result from the co-presence of several common variants conferring susceptibility in each individual. […] The confirmation of the fact that the role of genetics in Brugada Syndrome is not yet fully understood comes from the fact that, at the time of diagnosis, a known genetic mutation is detected only in less than 30% of cases.

• #17 Brugada syndrome: clinical and genetic findings | Genetics in Medicine

  https://www.nature.com/articles/gim201535

  Brugada syndrome is a rare, inherited cardiac disease leading to ventricular fibrillation and sudden cardiac death in structurally normal hearts. […] To date, 18 genes have been associated with the disease, with the voltage-gated sodium channel type V gene (SCN5A) being the most common one to date. […] Currently, BrS is recognized as a rare, inherited cardiac channelopathy caused by an alteration of ionic currents that leads to ventricular arrhythmias and SCD. […] Despite the identification of 18 associated genes, 65-70% of clinically diagnosed cases remain without an identifiable genetic cause. […] Since the identification of the first gene associated with BrS in 1998, reports of other families affected by BrS have confirmed that the genetic origin of the disease follows an autosomal dominant pattern of inheritance.

• #18 Brugada Syndrome: Progress in Genetics, Risk Stratification and Management | AER Journal

  https://www.aerjournal.com/articles/brugada-syndrome-progress-genetics-risk-stratification-and-management?language_content_entity=en

  In 2013, SCN10A was identified by a genome-wide association study as one of the genetic variants that could modulate the susceptibility of BrS. […] BrS was previously considered a rare disease of single-gene Mendelian inheritance until a genome-wide association study in 2013 demonstrated the strong effect of common genetic variations and polymorphisms on BrS. […] There are three major mechanistic models explaining the electric abnormality in BrS, namely the repolarisation, depolarisation and neural crest models. […] Commonly considered as a channelopathy, evidence has revealed structural derangement of the right ventricle in BrS. […] The concept of the connexome connects the two diseases. […] A recent change in the BrS phenotype at presentation compared with earlier years (prior to 2003) has been noted.

• #19 Heart conditions: Brugada syndrome | CardioSecur

  https://www.cardiosecur.com/magazine/specialist-articles-on-the-heart/heart-conditions-brugada-syndrome

  Brugada syndrome is a rare genetic cardiac disease, named after the Brugada brothers who first described this syndrome in 1992. […] The underlying cause of Brugada syndrome is a sodium channelopathy (a disturbance of the sodium ion channels in the cardiac muscle cells of the heart). […] A pathological change of the cardiac conduction system causes a heart rhythm disturbance. […] The cause of Brugada syndrome is most often due to a primarily electrical condition stemming from a mutation of the gene SCN51. Mutations of this gene lead to a disturbance in the sodium channel, causing dysregulation of the influx and efflux of sodium. This leads to a disturbance in the depolarization/repolarization of the cardiac cells, putting those affected at risk for an arrhythmia.

• #20 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Brugada syndrome is an inherited channelopathy, characterized by large J-waves and coved ST elevation with associated T-wave inversion in leads V1-V3, that causes an increased risk of ventricular tachycardia (VT) and ventricular fibrillation (VF), leading to syncope and sudden death. […] Overall the incidence of Brugada syndrome is approximately 5 in 10,000 but shows wide variation with ethnicity and, consequently geographical region, being highest is Southeast Asia (37 in 10,000), the Middle East (18/10,000), and the rest of Asia (17 in 10,000) and much lower in Europe (1/10,000) and North America (0.5/10,000). […] Brugada syndrome results from mutations that decrease inward sodium or calcium currents or increase early outward potassium currents. […] These abnormalities lead to early loss of the action potential plateau, particularly in the epicardial cells of the right ventricular outflow tract that produce characteristic right precordial ECG changes and a propensity to ventricular tachyarrhythmias.

• #21 Brugada Syndrome – Revista Española de Cardiología (English Edition)

  https://www.revespcardiol.org/en-brugada-syndrome-articulo-13145482

  To date, more than 100 different mutations leading to Brugada syndrome have been described in the same gene, whose effect, in all the cases studied, is a decrease in transmembrane sodium current (INa), either because of a quantitative reduction, or by a qualitative channel dysfunction. […] Even though SCN5A is the only gene to have been associated with Brugada syndrome in almost a decade, only 18% to 30% of the patients test positive for mutations in this gene, which indicates that the disease is genetically heterogeneous. […] According to this hypothesis, 4 new genes associated with Brugada syndrome have been identified within the last 2 years, although how much they contribute to the total number of cases of the disease remains unknown. […] The ion current imbalance at the end of phase 1 of the action potential also explains the susceptibility to develop ventricular arrhythmias in Brugada syndrome, which would arise via a phase 2 reentry mechanism.

• #22 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Brugada syndrome is an inherited channelopathy, characterized by large J-waves and coved ST elevation with associated T-wave inversion in leads V1-V3, that causes an increased risk of ventricular tachycardia (VT) and ventricular fibrillation (VF), leading to syncope and sudden death. […] Overall the incidence of Brugada syndrome is approximately 5 in 10,000 but shows wide variation with ethnicity and, consequently geographical region, being highest is Southeast Asia (37 in 10,000), the Middle East (18/10,000), and the rest of Asia (17 in 10,000) and much lower in Europe (1/10,000) and North America (0.5/10,000). […] Brugada syndrome results from mutations that decrease inward sodium or calcium currents or increase early outward potassium currents. […] These abnormalities lead to early loss of the action potential plateau, particularly in the epicardial cells of the right ventricular outflow tract that produce characteristic right precordial ECG changes and a propensity to ventricular tachyarrhythmias.

• #23 Brugada Syndrome – Causes, Symptoms, Diagnosis & Treatment

  https://www.medindia.net/health/conditions/brugada-syndrome.htm

  Brugada syndrome predominantly has a genetic cause. Each child of an affected individual has a 50% chance of inheriting the genetic variation as an autosomal dominant. […] The primary gene associated with Brugada syndrome is located on chromosome 3 and is known as the SCN5A gene. Approximately 15%-30% of individuals with Brugada syndrome have a SCN5A gene mutation. […] Genetics Brugada syndrome SCN5A gene is responsible for the production of a protein that allows movement of sodium ions into cardiac muscle cells. Abnormalities in the SCN5A gene cause a disturbed functioning of this sodium channel. This results in a reduction of sodium into the heart cells leading to an abnormal heart rhythm that can lead to sudden death. […] Brugada syndrome is mostly inherited as an autosomal dominant. It is caused mainly by mutations in the SCN5A gene which induces a disturbed functioning of sodium channels or proteins that regulate them. Dysfunction of the sodium channels leads to local conduction blockages in the heart.

• #24 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #25 Induced Brugada syndrome: Possible sources of arrhythmogenesis | Revista Portuguesa de Cardiologia (English edition)

  https://revportcardiol.org/en-induced-brugada-syndrome-possible-sources-articulo-S2174204917303835

  Fever is now recognized as being capable of unmasking BrS by promoting a type I Brugada ECG in susceptible individuals. […] A study by Adler et al. reported that type 1 Brugada ECG was 20 times more prevalent among patients with fever than in afebrile patients and that the prevalence of fever-induced BrS was 2%. […] It has been observed that an SCN5A mutation identified in BrS patients leads to a loss of function of the sodium channel current that is accentuated at higher temperatures. […] The mechanisms by which some of these drugs can induce a type 1 ECG and proarrhythmic effects are not yet fully clarified. […] However, most of them are either confirmed or believed to act through INa blockage, and a few may also act on other cardiac channels, by promoting a decrease in ICa or an increase in Ito currents.

• #26 Brugada Syndrome: Causes, Symptoms, Risk Factors

  https://www.prepladder.com/neet-pg-study-material/medicine/brugada-syndrome-causes-symptoms-risk-factors-complications-diagnosis-and-treatment

  Brugada syndrome is a rare but potentially fatal cardiac rhythm disorder (arrhythmia), which is occasionally hereditary in origin. […] Brugada syndrome could result from: A structural problem with the heart that may be hard to find. […] An alteration in these channels results in the deadly cardiac rhythm (ventricular fibrillation) in Brugada syndrome, which makes the heart beat fast. […] Using cocaine or specific prescription drugs. […] Brugada syndrome is predisposed by: Brugada syndrome family history- It is common for this illness to be inherited within families. […] Brugada syndrome affects men more commonly than it does women. […] Race- As opposed to people of other ethnicities, Asians experience Brugada syndrome more commonly. […] Fever-Brugada syndrome is not brought on by a temperature, although it can irritate the heart in those who have it, especially in youngsters, and lead to fainting or sudden cardiac arrest.

• #27 Induced Brugada syndrome: Possible sources of arrhythmogenesis | Revista Portuguesa de Cardiologia (English edition)

  https://revportcardiol.org/en-induced-brugada-syndrome-possible-sources-articulo-S2174204917303835

  The type 1 BrS ECG is often dynamic and sometimes concealed, and may be unmasked during febrile states, due to electrolyte imbalance, or under vagotonic conditions such as at rest or during sleep (but rarely during exercise), or under the effect of certain agents, such as sodium channel blockers (class IA and IC antiarrhythmic drugs). […] Recently, many other drugs, including antidepressants, antipsychotics, anesthetics, antihistamines and cocaine, have also been implied in the induction of Brugada patterns, which represents a considerable challenge for physicians in clinical practice because of their potential for arrhythmic events. […] The purpose of this paper was to review the literature on the modulators (agents and conditions) associated with induced type 1 Brugada pattern, as possible causes of adverse events and arrhythmogenesis, particularly in BrS itself, and to describe some of the possible underlying mechanisms.

• #28 Brugada syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Brugada_syndrome

  Drugs that have been implicated include antiarrhythmic medications such as flecainide, verapamil and propranolol, antidepressants such as amitryptiline, and drugs that enhance vagal tone such as acetylcholine. […] Some mutations associated with Brugada syndrome can also cause other heart conditions. […] Brugada syndrome has been described as overlapping with arrhythmogenic right ventricular cardiomyopathy (ARVC) caused by a mutation in the PKP2 gene, causing a Brugada ECG pattern but structural changes in the heart characteristic of ARVC.

• #29 Brugada syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/brugada-syndrome/

  In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene.

• #30 Brugada Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/163751-overview

  Brugada syndrome is genetically determined and has an autosomal dominant pattern of transmission in about 50% of familial cases (see Etiology). […] The prototypical case of Brugada syndrome has been associated with alterations in the SCN5A gene, of which nearly 300 mutations have been described. […] Mutations in other genes have been proposed to cause a variant of Brugada syndrome, including the genes coding for alpha1- and beta2b-subunits of the L-type calcium channel (CACNA1C and CACNB2), which are thought to cause a syndrome of precordial ST elevation, sudden death, and short QT interval. […] Many clinical situations have been reported to unmask or exacerbate the ECG pattern of Brugada syndrome. Examples are a febrile state, hyperkalemia, hypokalemia, hypercalcemia, alcohol or cocaine intoxication, and the use of certain medications, including sodium channel blockers, vagotonic agents, alpha-adrenergic agonists, beta-adrenergic blockers, heterocyclic antidepressants, and a combination of glucose and insulin.

• #31 Brugada Syndrome • LITFL • ECG Library Diagnosis

  https://litfl.com/brugada-syndrome-ecg-library/

  Brugada syndrome is due to a mutation in the cardiac sodium channel gene. This is often referred to as a sodium channelopathy. Over 60 different mutations have been described so far and at least 50% are spontaneous mutations, but familial clustering and autosomal dominant inheritance has been demonstrated. […] ECG changes can be transient with Brugada syndrome and can also be unmasked or augmented by multiple factors: Fever, Ischaemia, Multiple Drugs, Hypokalaemia, Hyperkalaemia, Hypothermia, Post DC cardioversion.

• #32 What You Should Know About Brugada Syndrome

  https://www.verywellhealth.com/brugada-syndrome-4098582

  In addition, people with Brugada syndrome may have a form of dysautonomia—an imbalance between sympathetic and parasympathetic tone. […] It is suspected that the normal increase in parasympathetic tone that occurs during sleep may be exaggerated in people with Brugada syndrome, and that this strong parasympathetic tone may trigger the abnormal channels to become unstable, and produce sudden death. […] Other factors that can trigger a fatal arrhythmia in people with Brugada syndrome include fever, cocaine use, excessive alcohol intake and the use of various medications, especially certain antidepressant drugs.

• #33 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Patients with a spontaneous or provoked type 1 Brugada syndrome ECG pattern and recent unexplained syncope, sustained VT, or cardiac arrest should typically have an implantable cardioverter-defibrillator (ICD). […] Best treatment of Brugada syndrome in patients diagnosed based on ECG changes and family history but who do not have syncope or arrhythmia is unclear, although they do have increased risk of sudden death. […] Risk factors for symptomatic arrhythmias include fever and numerous medications and other substances (eg, alcohol, cocaine).

• #34 What You Should Know About Brugada Syndrome

  https://www.verywellhealth.com/brugada-syndrome-4098582

  In addition, people with Brugada syndrome may have a form of dysautonomia—an imbalance between sympathetic and parasympathetic tone. […] It is suspected that the normal increase in parasympathetic tone that occurs during sleep may be exaggerated in people with Brugada syndrome, and that this strong parasympathetic tone may trigger the abnormal channels to become unstable, and produce sudden death. […] Other factors that can trigger a fatal arrhythmia in people with Brugada syndrome include fever, cocaine use, excessive alcohol intake and the use of various medications, especially certain antidepressant drugs.

• #35 Brugada Syndrome

  https://johnshopkinshealthcare.staywellsolutionsonline.com/Conditions/COPD/134,217

  Brugada syndrome is a genetic disorder that can cause a dangerous irregular heartbeat. […] The genetic form of Brugada syndrome is most often caused by a defect in certain genes that handle sodium. […] It can be inherited from just one parent. […] These genetic defects cause malfunctioning sodium channels in the heart muscle cells. […] People who are at greatest risk for the disorder are those of Asian descent, particularly Japanese and Southeast Asian heritage. […] It occurs 8 to 10 times more often in men than in women. […] Many cases of Brugada syndrome are related to a genetic defect. […] It’s not possible for you to prevent inheriting this condition. […] Genetic testing can look for a mutation, such as with the SCN5A gene, that may help determine your risk. […] It can be either inherited or acquired.

• #36 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Despite the high number of gene mutations, only about 35% of BrS patients have been determined to have a genetic cause. […] Several factors could explain the high number of BrS patients without genetic alteration after genetic screening. […] The role of hormones is also debated, in that a regression of the typical ECG features has been observed in castrated men, and the levels of testosterone seem to be higher in male BrS patients.

• #37 Brugada Syndrome: Progress in Genetics, Risk Stratification and Management | AER Journal

  https://www.aerjournal.com/articles/brugada-syndrome-progress-genetics-risk-stratification-and-management?language_content_entity=en

  In 2013, SCN10A was identified by a genome-wide association study as one of the genetic variants that could modulate the susceptibility of BrS. […] BrS was previously considered a rare disease of single-gene Mendelian inheritance until a genome-wide association study in 2013 demonstrated the strong effect of common genetic variations and polymorphisms on BrS. […] There are three major mechanistic models explaining the electric abnormality in BrS, namely the repolarisation, depolarisation and neural crest models. […] Commonly considered as a channelopathy, evidence has revealed structural derangement of the right ventricle in BrS. […] The concept of the connexome connects the two diseases. […] A recent change in the BrS phenotype at presentation compared with earlier years (prior to 2003) has been noted.

• #38 Brugada Syndrome – Causes, Symptoms, Diagnosis & Treatment

  https://www.medindia.net/health/conditions/brugada-syndrome.htm

  Structural abnormalities in the heart such as right ventricular dilation, fibrous and fatty replacement of tissues of the right ventricle, and fibrotic disruption of the right bundle branch. […] Diffused or localized right ventricular inflammation [myocarditis] due to Coxsackie, Epstein-Barr virus and Parvovirus. […] Effects of as sodium blocking drugs such as Ajmaline, Ethacizin, and Flecainide. […] Usage of drugs such as Cocaine and Ergonovine (a medication used to cause contractions of the uterus to treat heavy vaginal bleeding after childbirth).

• #39 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Although different mutations have been reported, most are in the SCN5A gene, producing a loss-of-function of the inward sodium current. […] Nevertheless, relationships with other genetic and acquired structural heart diseases are increasingly being recognized, as are overlap syndromes with long QT syndrome type 3, with the early repolarization syndrome, and with arrhythmogenic right ventricular cardiomyopathy (ARVC). […] Diagnosis should be considered in patients with unexplained cardiac arrest or syncope or a family history of such when the affected people do not have structural heart disease. […] The role of electrophysiologic testing is currently debated. […] Genetic testing is usually recommended but has a yield of approximately 20%. […] The diagnosis of Brugada syndrome includes considering, and ruling out, other disorders that produce similar cardiac findings, including hypothermia, hypocalcemia, right bundle branch block, arrhythmogenic right ventricular cardiomyopathy, acute pulmonary embolism, and left anterior descending coronary artery of conus branch of the right coronary artery occlusion.

• #40 Brugada syndrome – Wikipedia

  https://en.wikipedia.org/wiki/Brugada_syndrome

  Brugada syndrome is a genetic disorder in which the electrical activity of the heart is abnormal due to channelopathy. […] Some cases may be due to a new genetic mutation or certain medications. […] The most commonly involved gene is SCN5A which encodes the cardiac sodium channel. […] The individual heart muscle cells communicate with each other with electrical signals that are disrupted in those with Brugada syndrome. As a genetic condition, the syndrome is ultimately caused by changes to a person’s DNA, known as genetic mutations. […] The first mutations described in association with Brugada syndrome were in a gene responsible for a protein or ion channel that controls the flow of sodium ions through the cell membrane of heart muscle cells the cardiac sodium channel. […] A long list of factors that can generate a Brugada ECG pattern have been described, including certain medications, electrolyte disturbances such as a decrease in the levels of potassium in the blood, and a reduction in blood supply to key areas of the heart, specifically the right ventricular outflow tract.

• #41 Brugada Syndrome – Brigham and Women’s Hospital

  https://www.brighamandwomens.org/heart-and-vascular-center/diseases-and-conditions/brugada-syndrome

  Brugada syndrome is an inherited disorder of the hearts electrical system that can result in an abnormal heart beat (arrhythmia). […] Although Brugada syndrome typically has a genetic cause, sometimes it is acquired (meaning it is not inherited but has an environmental cause). Usually, the acquired form is prompted by certain medications. Still researchers believe that even when a drug appears to have caused it, these patients are predisposed to developing the condition due to genetic reasons.

• #42 Brugada syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/brugada-syndrome/

  In affected people without an identified gene mutation, the cause of Brugada syndrome is often unknown. In some cases, certain drugs may cause a nongenetic (acquired) form of the disorder. Drugs that can induce an altered heart rhythm include medications used to treat some forms of arrhythmia, a condition called angina (which causes chest pain), high blood pressure, depression, and other mental illnesses. Abnormally high blood levels of calcium (hypercalcemia) or potassium (hyperkalemia), as well as unusually low potassium levels (hypokalemia), also have been associated with acquired Brugada syndrome. In addition to causing a nongenetic form of this disorder, these factors may trigger symptoms in people with an underlying mutation in SCN5A or another gene.

• #43 Induced Brugada syndrome: Possible sources of arrhythmogenesis | Revista Portuguesa de Cardiologia (English edition)

  https://revportcardiol.org/en-induced-brugada-syndrome-possible-sources-articulo-S2174204917303835

  The type 1 BrS ECG is often dynamic and sometimes concealed, and may be unmasked during febrile states, due to electrolyte imbalance, or under vagotonic conditions such as at rest or during sleep (but rarely during exercise), or under the effect of certain agents, such as sodium channel blockers (class IA and IC antiarrhythmic drugs). […] Recently, many other drugs, including antidepressants, antipsychotics, anesthetics, antihistamines and cocaine, have also been implied in the induction of Brugada patterns, which represents a considerable challenge for physicians in clinical practice because of their potential for arrhythmic events. […] The purpose of this paper was to review the literature on the modulators (agents and conditions) associated with induced type 1 Brugada pattern, as possible causes of adverse events and arrhythmogenesis, particularly in BrS itself, and to describe some of the possible underlying mechanisms.

• #44 Brugada Syndrome | The Texas Heart Institute®

  https://www.texasheart.org/heart-health/heart-information-center/topics/brugada-syndrome/

  Brugada syndrome is an unusual genetic disorder of the heart’s electrical system. Although people are born with it, they usually do not know they have it until they reach their 30s or 40s. […] Brugada syndrome is usually an inherited condition, which means it is passed down through family members. In about one-third of patients, doctors know which gene is responsible for the condition. […] In some cases, the signs of Brugada syndrome are mimicked by electrolyte imbalances, certain hormone disorders, or by cocaine use. In these cases, doctors still think that a genetic defect is the cause of Brugada syndrome, but that the defect is not severe enough to cause problems on its own. […] With Brugada syndrome, there is a defect in one of those ion channels. In about 1 of 3 patients, the defect is in the specific ion channel called the “SCN5A”. This defect can lead to a dangerous heart rhythm called ventricular fibrillation, which is a much faster, chaotic heartbeat that sometimes reaches 300 beats a minute. This chaotic heartbeat means very little blood is pumped from the heart to the brain and the body and can be life threatening.

• #45 Brugada Syndrome

  https://johnshopkinshealthcare.staywellsolutionsonline.com/Conditions/COPD/134,217

  Brugada syndrome is a genetic disorder that can cause a dangerous irregular heartbeat. […] The genetic form of Brugada syndrome is most often caused by a defect in certain genes that handle sodium. […] It can be inherited from just one parent. […] These genetic defects cause malfunctioning sodium channels in the heart muscle cells. […] People who are at greatest risk for the disorder are those of Asian descent, particularly Japanese and Southeast Asian heritage. […] It occurs 8 to 10 times more often in men than in women. […] Many cases of Brugada syndrome are related to a genetic defect. […] It’s not possible for you to prevent inheriting this condition. […] Genetic testing can look for a mutation, such as with the SCN5A gene, that may help determine your risk. […] It can be either inherited or acquired.

• #46 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Brugada syndrome is an inherited channelopathy, characterized by large J-waves and coved ST elevation with associated T-wave inversion in leads V1-V3, that causes an increased risk of ventricular tachycardia (VT) and ventricular fibrillation (VF), leading to syncope and sudden death. […] Overall the incidence of Brugada syndrome is approximately 5 in 10,000 but shows wide variation with ethnicity and, consequently geographical region, being highest is Southeast Asia (37 in 10,000), the Middle East (18/10,000), and the rest of Asia (17 in 10,000) and much lower in Europe (1/10,000) and North America (0.5/10,000). […] Brugada syndrome results from mutations that decrease inward sodium or calcium currents or increase early outward potassium currents. […] These abnormalities lead to early loss of the action potential plateau, particularly in the epicardial cells of the right ventricular outflow tract that produce characteristic right precordial ECG changes and a propensity to ventricular tachyarrhythmias.

• #47 Brugada Syndrome | BIDMC of Boston

  https://www.bidmc.org/conditions-and-treatments/heart-and-vascular/brugada-syndrome

  Brugada syndrome is sometimes associated with one or more mutations of the SCN5A gene, but in most cases, the genetic defect is unknown. […] Risk factors for Brugada syndrome include: […] A family history of sudden cardiac death. […] Men are eight to 10 times more likely to have Brugada syndrome. […] Brugada syndrome is most common in Asians. […] Brugada syndrome is most commonly seen in men ages 30 to 50.

• #48 Brugada syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice US

  https://bestpractice.bmj.com/topics/en-us/3000313

  Brugada syndrome (BrS) (also known as sudden unexplained [or unexpected] nocturnal death syndrome and as idiopathic ventricular fibrillation) is an inherited channelopathy characterized by a typical pattern of ST-segment elevation in the precordial leads V1-V3, and is associated with increased risk of serious arrhythmic events such as ventricular arrhythmias and cardiac arrest. […] BrS is typically first diagnosed in young- to middle-aged patients and is rare in children. […] Risk factors include age 30 to 50 years, male sex, Asian ancestry, and family history of BrS or suspicious or unexplained cardiac death.

• #49 Brugada Syndrome | UCSF Cardiology

  https://ucsfhealthcardiology.ucsf.edu/brugada-syndrome

  Brugada syndrome is a genetic condition that causes abnormal heart rhythms (arrhythmias). […] The abnormal heart rhythms in Brugada syndrome are due to genetic differences in the electrical system that controls the heart rhythm. Several different genes have been associated with Brugada syndrome but these genes only are responsible for about a quarter of families with the condition. […] Brugada syndrome is usually inherited in an autosomal dominant manner. This means that each child of a parent with Brugada syndrome has a 50% chance of inheriting the genetic mutation associated with Brugada. […] Many people who inherit the genetic mutation never have any health problems related to Brugada syndrome. Family members who carry the genetic mutation associated with Brugada syndrome undergo an evaluation to determine their risk for serious arrhythmias. […] Genetic testing can be done to try to identify the genetic mutation causing Brugada syndrome to confirm the diagnosis and so other family members can have genetic testing to determine their risk.

• #50 Brugada syndrome: clinical and genetic findings | Genetics in Medicine

  https://www.nature.com/articles/gim201535

  More than 250 pathogenic variations associated with BrS have been reported in 18 different genes, which primarily encode for sodium, potassium, and calcium channels, or proteins associated with these channels. […] Pathogenic variations in genes encoding desmosomal proteins have also been associated with BrS. […] Despite these ongoing developments in understanding the genetic causes of BrS, only 30-35% of clinically diagnosed cases are genetically diagnosed, and most of these (25-30%) result from pathogenic alterations in SCN5A. […] The remaining BrS cases are attributable to alterations in one of the other known BrS-associated genes. […] Several pathogenic variations in three genes (SCN1B, SCN2B, SCN3B) encoding subunits of the Nav1.5 sodium channel have been discovered to modify the function of the channel (increasing or decreasing INa). […] Gain-of-function pathogenic variants in the KCND3-encoded Kv4.3 potassium channel are implicated in the pathogenesis and phenotypic expression of BrS, inducing lethal arrhythmia that has been precipitated by a genetically enhanced Ito current gradient within the right ventricle.

• #51 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Although different mutations have been reported, most are in the SCN5A gene, producing a loss-of-function of the inward sodium current. […] Nevertheless, relationships with other genetic and acquired structural heart diseases are increasingly being recognized, as are overlap syndromes with long QT syndrome type 3, with the early repolarization syndrome, and with arrhythmogenic right ventricular cardiomyopathy (ARVC). […] Diagnosis should be considered in patients with unexplained cardiac arrest or syncope or a family history of such when the affected people do not have structural heart disease. […] The role of electrophysiologic testing is currently debated. […] Genetic testing is usually recommended but has a yield of approximately 20%. […] The diagnosis of Brugada syndrome includes considering, and ruling out, other disorders that produce similar cardiac findings, including hypothermia, hypocalcemia, right bundle branch block, arrhythmogenic right ventricular cardiomyopathy, acute pulmonary embolism, and left anterior descending coronary artery of conus branch of the right coronary artery occlusion.

• #52 Brugada Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK519568/

  Brugada syndrome is a genetic disease that predisposes patients to fatal cardiac arrhythmias. […] The first genetic association with Brugada syndrome discovered was a loss-of-function mutation in the cardiac voltage-gated sodium channel gene SCN5A. It is thought to be found in 15-30% of Brugada Syndrome cases. […] Mutations in calcium and potassium channels, associated channel proteins, and desmosomal proteins have also been linked with the disease. […] Brugada syndrome is inherited in an autosomal dominant pattern; however, affected individuals may demonstrate variable expressivity and reduced penetrance. […] Additionally, many environmental and genetic factors may influence the phenotype, including temperature, medications, electrolyte abnormalities, and cocaine.

• #53 Brugada Syndrome – Cardiovascular Disorders – Merck Manual Professional Edition

  https://www.merckmanuals.com/professional/cardiovascular-disorders/arrhythmogenic-cardiac-disorders/brugada-syndrome

  Although different mutations have been reported, most are in the SCN5A gene, producing a loss-of-function of the inward sodium current. […] Nevertheless, relationships with other genetic and acquired structural heart diseases are increasingly being recognized, as are overlap syndromes with long QT syndrome type 3, with the early repolarization syndrome, and with arrhythmogenic right ventricular cardiomyopathy (ARVC). […] Diagnosis should be considered in patients with unexplained cardiac arrest or syncope or a family history of such when the affected people do not have structural heart disease. […] The role of electrophysiologic testing is currently debated. […] Genetic testing is usually recommended but has a yield of approximately 20%. […] The diagnosis of Brugada syndrome includes considering, and ruling out, other disorders that produce similar cardiac findings, including hypothermia, hypocalcemia, right bundle branch block, arrhythmogenic right ventricular cardiomyopathy, acute pulmonary embolism, and left anterior descending coronary artery of conus branch of the right coronary artery occlusion.

• #54 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Brugada syndrome is a rare cardiac arrhythmia characterized by electrocardiographic right bundle branch block and persistent ST-segment elevation in the right precordial leads. […] So far, several pathogenic genes have been identified as associated with the disease, but SCN5A is the most prevalent one. […] The etiology of BrS is multifactorial, involving genetic, environmental, and hormonal components that contribute to its phenotype manifestation. […] Brugada syndrome is a disease with an autosomal dominant pattern of transmission. […] In 1998, the first pathogenic mutation in the SCN5A gene was identified. […] Since then, more than 350 pathogenic mutations in several genes have been published (SCN5A, GPD1L, SCN1B, SCN2B, SCN3B, RANGRF, SLMAP, KCNE3, KCNJ8, HCN4, KCNE5, KCND3, CACNA1C, CACNB2B, CACNA2D1, and TRPM4).

• #55 Brugada Syndrome: Progress in Genetics, Risk Stratification and Management | AER Journal

  https://www.aerjournal.com/articles/brugada-syndrome-progress-genetics-risk-stratification-and-management?language_content_entity=en

  In 2013, SCN10A was identified by a genome-wide association study as one of the genetic variants that could modulate the susceptibility of BrS. […] BrS was previously considered a rare disease of single-gene Mendelian inheritance until a genome-wide association study in 2013 demonstrated the strong effect of common genetic variations and polymorphisms on BrS. […] There are three major mechanistic models explaining the electric abnormality in BrS, namely the repolarisation, depolarisation and neural crest models. […] Commonly considered as a channelopathy, evidence has revealed structural derangement of the right ventricle in BrS. […] The concept of the connexome connects the two diseases. […] A recent change in the BrS phenotype at presentation compared with earlier years (prior to 2003) has been noted.

• #56 What You Should Know About Brugada Syndrome

  https://www.verywellhealth.com/brugada-syndrome-4098582

  In addition, people with Brugada syndrome may have a form of dysautonomia—an imbalance between sympathetic and parasympathetic tone. […] It is suspected that the normal increase in parasympathetic tone that occurs during sleep may be exaggerated in people with Brugada syndrome, and that this strong parasympathetic tone may trigger the abnormal channels to become unstable, and produce sudden death. […] Other factors that can trigger a fatal arrhythmia in people with Brugada syndrome include fever, cocaine use, excessive alcohol intake and the use of various medications, especially certain antidepressant drugs.

• #57 BRUGADA SYNDROME

  https://pmc.ncbi.nlm.nih.gov/articles/PMC4051330/

  Despite the high number of gene mutations, only about 35% of BrS patients have been determined to have a genetic cause. […] Several factors could explain the high number of BrS patients without genetic alteration after genetic screening. […] The role of hormones is also debated, in that a regression of the typical ECG features has been observed in castrated men, and the levels of testosterone seem to be higher in male BrS patients.

• #58 Brugada Syndrome: Progress in Genetics, Risk Stratification and Management | AER Journal

  https://www.aerjournal.com/articles/brugada-syndrome-progress-genetics-risk-stratification-and-management?language_content_entity=en

  Symptoms (including syncope and aborted SCD) and a spontaneous type 1 BrS ECG pattern are known to carry a significantly higher risk of ventricular arrhythmia and SCD in BrS patients. […] The role of EPS in the risk stratification of BrS patients has been debated for years, yet it still remains controversial owing to inconsistent results among different studies. […] A multiparametric approach has been attempted aiming at better risk stratification. […] Quinidine a class I anti-arrhythmic medication and an Ito current inhibitor is an established medication used to prevent and terminate ventricular arrhythmia, electrical storm and frequent electric ICD shocks in BrS patients. […] Radiofrequency ablation (RFA) has arisen as a promising therapeutic option for BrS in the past decade. […] Despite early attempts for ablation beginning with endocardial approaches, later studies have shown that most of the electrophysiological substrate locates at the RVOT epicardium, and thus epicardial ablation has become a more accepted approach due to its improved efficacy in eliminating arrhythmogenic substrates.

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