Uma doença com causas genéticas variadas, caracterizada por um bloqueio (total ou parcial) na "fiação elétrica" do lado direito do coração, e uma alteração no exame de eletrocardiograma (ECG), que mostra uma "elevação de ST" em pontos específicos (V1-V3). É comum que pessoas com essa condição tenham arritmias (batimentos cardíacos irregulares), originadas nos ventrículos (câmaras inferiores do coração), o que pode levar à morte súbita.
Introdução
O que você precisa saber de cara
Uma doença com causas genéticas variadas, caracterizada por um bloqueio (total ou parcial) na "fiação elétrica" do lado direito do coração, e uma alteração no exame de eletrocardiograma (ECG), que mostra uma "elevação de ST" em pontos específicos (V1-V3). É comum que pessoas com essa condição tenham arritmias (batimentos cardíacos irregulares), originadas nos ventrículos (câmaras inferiores do coração), o que pode levar à morte súbita.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 27 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
22 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant, Not applicable.
Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provoke
Cell membrane
Brugada syndrome 7
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Subunit of ATP-sensitive potassium channels (KATP). Can form cardiac and smooth muscle-type KATP channels with KCNJ11. KCNJ11 forms the channel pore while ABCC9 is required for activation and regulation (PubMed:9831708). Can form a sulfonylurea-sensitive but ATP-insensitive potassium channel with KCNJ8 (By similarity)
Membrane
Cardiomyopathy, dilated, 1O
A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death.
Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1
Secreted
Hypogonadotropic hypogonadism 16 with or without anosmia
A disorder characterized by absent or incomplete sexual maturation by the age of 18 years, in conjunction with low levels of circulating gonadotropins and testosterone and no other abnormalities of the hypothalamic-pituitary axis. In some cases, it is associated with non-reproductive phenotypes, such as anosmia, cleft palate, and sensorineural hearing loss. Anosmia or hyposmia is related to the absence or hypoplasia of the olfactory bulbs and tracts. Hypogonadism is due to deficiency in gonadotropin-releasing hormone and probably results from a failure of embryonic migration of gonadotropin-releasing hormone-synthesizing neurons. In the presence of anosmia, idiopathic hypogonadotropic hypogonadism is referred to as Kallmann syndrome, whereas in the presence of a normal sense of smell, it has been termed normosmic idiopathic hypogonadotropic hypogonadism (nIHH).
Inward rectifier potassium channels are characterized by a greater tendency to allow potassium to flow into the cell rather than out of it (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). Their voltage dependence is regulated by the concentration of extracellular potassium; as external potassium is raised, the voltage range of the channel opening shifts to more positive voltages (PubMed:20558321, PubMed:21836131, PubMed:24700710, PubMed:28842488). The inward rectification is
Membrane
Tetrodotoxin-resistant channel that mediates the voltage-dependent sodium ion permeability of excitable membranes. Assuming opened or closed conformations in response to the voltage difference across the membrane, the protein forms a sodium-selective channel through which sodium ions may pass in accordance with their electrochemical gradient. Plays a role in neuropathic pain mechanisms
Cell membrane
Episodic pain syndrome, familial, 2
An autosomal dominant neurologic disorder characterized by adult-onset of paroxysmal pain mainly affecting the distal lower extremities.
Ancillary protein that functions as a regulatory subunit of the voltage-gated potassium (Kv) channel complex composed of pore-forming and potassium-conducting alpha subunits and of regulatory beta subunits. KCNE3 beta subunit modulates the gating kinetics and enhances stability of the channel complex (PubMed:10646604, PubMed:11207363, PubMed:12954870). Alters the gating of the delayed rectifier Kv channel containing KCNB1 alpha subunit (PubMed:12954870). Associates with KCNC4/Kv3.4 alpha subunit
Cell membraneCytoplasmPerikaryonCell projection, dendriteMembrane raft
Brugada syndrome 6
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
The alpha-2/delta subunit of voltage-dependent calcium channels regulates calcium current density and activation/inactivation kinetics of the calcium channel (PubMed:35293990). Plays an important role in excitation-contraction coupling (By similarity)
MembraneCell membrane
Developmental and epileptic encephalopathy 110
A form of epileptic encephalopathy, a heterogeneous group of early-onset epilepsies characterized by refractory seizures, neurodevelopmental impairment, and poor prognosis. Development is normal prior to seizure onset, after which cognitive and motor delays become apparent. DEE110 is an autosomal recessive form characterized by profound global developmental delay and hypotonia apparent in infancy followed by onset of seizures in the first months or years of life.
Pore-forming (alpha) subunit of voltage-gated A-type potassium channels that mediates transmembrane potassium transport in excitable membranes, in brain and heart (PubMed:10200233, PubMed:17187064, PubMed:21349352, PubMed:22457051, PubMed:23280837, PubMed:23280838, PubMed:34997220, PubMed:9843794). In cardiomyocytes, may generate the transient outward potassium current I(To) (By similarity). In neurons, may conduct the transient subthreshold somatodendritic A-type potassium current (ISA) (By sim
Cell membraneCell membrane, sarcolemmaCell projection, dendrite
Spinocerebellar ataxia 19
A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCA19 is a relatively mild, cerebellar ataxic syndrome with cognitive impairment, pyramidal tract involvement, tremor and peripheral neuropathy, and mild atrophy of the cerebellar hemispheres and vermis.
Potassium channel ancillary subunit that is essential for generation of some native K(+) currents by virtue of formation of heteromeric ion channel complex with voltage-gated potassium (Kv) channel pore-forming alpha subunits. Functions as an inhibitory beta-subunit of the repolarizing cardiac potassium ion channel KCNQ1
Membrane
AMME complex
An X-linked contiguous gene deletion syndrome characterized by glomerulonephritis, sensorineural hearing loss, intellectual disability, midface hypoplasia and elliptocytosis.
May regulate the intracellular trafficking of RAN (PubMed:11290418). Promotes guanine nucleotide release from RAN and inhibits binding of new GTP by preventing the binding of the RAN guanine nucleotide exchange factor RCC1 (PubMed:29040603). Regulates the levels of GTP-bound RAN in the nucleus, and thereby plays a role in the regulation of RAN-dependent mitotic spindle dynamics (PubMed:29040603). Enhances the expression of SCN5A at the cell membrane in cardiomyocytes (PubMed:18184654, PubMed:216
NucleusCytoplasm, perinuclear regionCytoplasmCell membrane
Plays a role in regulating cardiac sodium current; decreased enzymatic activity with resulting increased levels of glycerol 3-phosphate activating the DPD1L-dependent SCN5A phosphorylation pathway, may ultimately lead to decreased sodium current; cardiac sodium current may also be reduced due to alterations of NAD(H) balance induced by DPD1L
Cytoplasm
Brugada syndrome 2
A tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Beta subunit of voltage-dependent calcium channels which contributes to the function of the calcium channel by increasing peak calcium current (By similarity). Plays a role in shifting voltage dependencies of activation and inactivation of the channel (By similarity). May modulate G protein inhibition (By similarity). May contribute to beta-adrenergic augmentation of Ca(2+) influx in cardiomyocytes, thereby regulating increases in heart rate and contractile force (PubMed:36424916). Involved in m
Cell membrane, sarcolemma
Brugada syndrome 4
A heart disease characterized by the association of Brugada syndrome with shortened QT intervals. Brugada syndrome is a tachyarrhythmia characterized by right bundle branch block and ST segment elevation on an electrocardiogram (ECG). It can cause the ventricles to beat so fast that the blood is prevented from circulating efficiently in the body. When this situation occurs, the individual will faint and may die in a few minutes if the heart is not reset.
Scaffolding protein that assembles several protein kinases and phosphatases on the centrosome and Golgi apparatus. Required to maintain the integrity of the Golgi apparatus (PubMed:10202149, PubMed:15047863). Required for microtubule nucleation at the cis-side of the Golgi apparatus (PubMed:15047863, PubMed:19242490). Required for association of the centrosomes with the poles of the bipolar mitotic spindle during metaphase (PubMed:25657325). In complex with PDE4DIP isoform 13/MMG8/SMYLE, recruit
Golgi apparatusCytoplasmCytoplasm, cytoskeleton, microtubule organizing center, centrosome
Long QT syndrome 11
A heart disorder characterized by a prolonged QT interval on the ECG and polymorphic ventricular arrhythmias. They cause syncope and sudden death in response to exercise or emotional stress, and can present with a sentinel event of sudden cardiac death in infancy.
Pore-forming, alpha-1C subunit of the voltage-gated calcium channel that gives rise to L-type calcium currents (PubMed:12181424, PubMed:15454078, PubMed:15863612, PubMed:16299511, PubMed:17224476, PubMed:20953164, PubMed:23677916, PubMed:24728418, PubMed:26253506, PubMed:27218670, PubMed:29078335, PubMed:29742403, PubMed:30023270, PubMed:30172029, PubMed:34163037, PubMed:8099908). Mediates influx of calcium ions into the cytoplasm, and thereby triggers calcium release from the sarcoplasm (By sim
Cell membraneCell membrane, sarcolemmaPerikaryonPostsynaptic density membraneCell projection, dendriteCell membrane, sarcolemma, T-tubule
Timothy syndrome
Disorder characterized by multiorgan dysfunction including lethal arrhythmias, webbing of fingers and toes, congenital heart disease, immune deficiency, intermittent hypoglycemia, cognitive abnormalities and autism.
This is one of the three pore-forming subunits of the heterotrimeric epithelial sodium channel (ENaC), a critical regulator of sodium balance and fluid homeostasis (PubMed:30251954, PubMed:32729833, PubMed:8023962, PubMed:8278374, PubMed:9792722). ENaC operates in epithelial tissues, where it mediates the electrodiffusion of sodium ions from extracellular fluid through the apical membrane of cells, with water following osmotically (PubMed:24124190, PubMed:28710092, PubMed:8278374). It plays a ke
Apical cell membraneCell projection, ciliumCytoplasmic granuleCytoplasmCytoplasmic vesicle, secretory vesicle, acrosomeCell projection, cilium, flagellum
Pseudohypoaldosteronism 1B1, autosomal recessive
A form of pseudohypoaldosteronism type 1, a rare salt wasting disease resulting from target organ unresponsiveness to mineralocorticoids. The disorder affects multiple organs, and is characterized by an often fulminant presentation in the neonatal period with dehydration, hyponatremia, hyperkalemia, metabolic acidosis, failure to thrive and weight loss.
Hyperpolarization-activated ion channel that are permeable to Na(+) and K(+) ions with very slow activation and inactivation (PubMed:10228147, PubMed:10430953, PubMed:20829353). Exhibits higher selectivity for K(+) over Na(+) ions (PubMed:10228147). Contributes to the native pacemaker currents in heart (If) that regulate the rhythm of heart beat (Probable) (PubMed:10228147, PubMed:16407510, PubMed:19165230). Contributes to the native pacemaker currents in neurons (Ih) (Probable). May mediate res
Cell membrane
Sick sinus syndrome 2
The term 'sick sinus syndrome' encompasses a variety of conditions caused by sinus node dysfunction. The most common clinical manifestations are syncope, presyncope, dizziness, and fatigue. Electrocardiogram typically shows sinus bradycardia, sinus arrest, and/or sinoatrial block. Episodes of atrial tachycardias coexisting with sinus bradycardia ('tachycardia-bradycardia syndrome') are also common in this disorder. SSS occurs most often in the elderly associated with underlying heart disease or previous cardiac surgery, but can also occur in the fetus, infant, or child without heart disease or other contributing factors. SSS2 onset is in utero or at birth.
Pore-forming subunit of Nav1.5, a voltage-gated sodium (Nav) channel that directly mediates the depolarizing phase of action potentials in excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient.
Cell membraneCytoplasm, perinuclear regionCell membrane, sarcolemma, T-tubuleCell junction
Progressive familial heart block 1A
A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes (PubMed:19808477, PubMed:23559163, PubMed:26894959, PubMed:30765605, PubMed:30765606, PubMed:35277491, PubMed:36823201). Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they all
Cell membraneCell projection, axon
Atrial fibrillation, familial, 14
A familial form of atrial fibrillation, a common sustained cardiac rhythm disturbance. Atrial fibrillation is characterized by disorganized atrial electrical activity and ineffective atrial contraction promoting blood stasis in the atria and reduces ventricular filling. It can result in palpitations, syncope, thromboembolic stroke, and congestive heart failure.
A component of desmosome cell-cell junctions which are required for positive regulation of cellular adhesion (PubMed:25208567). Regulates focal adhesion turnover resulting in changes in focal adhesion size, cell adhesion and cell spreading, potentially via transcriptional modulation of beta-integrins (PubMed:23884246). Required to maintain gingival epithelial barrier function (PubMed:34368962). Important component of the desmosome that is also required for localization of desmosome component pro
NucleusCell junction, desmosomeCell junctionCytoplasm
Arrhythmogenic right ventricular dysplasia, familial, 9
A congenital heart disease characterized by infiltration of adipose and fibrous tissue into the right ventricle and loss of myocardial cells, resulting in ventricular and supraventricular arrhythmias.
Calcium-activated selective cation channel that mediates membrane depolarization (PubMed:12015988, PubMed:12842017, PubMed:29211723, PubMed:30528822). While it is activated by increase in intracellular Ca(2+), it is impermeable to it (PubMed:12015988). Mediates transport of monovalent cations (Na(+) > K(+) > Cs(+) > Li(+)), leading to depolarize the membrane (PubMed:12015988). It thereby plays a central role in cadiomyocytes, neurons from entorhinal cortex, dorsal root and vomeronasal neurons, e
Cell membraneEndoplasmic reticulumGolgi apparatus
Progressive familial heart block 1B
A cardiac bundle branch disorder characterized by progressive alteration of cardiac conduction through the His-Purkinje system, with a pattern of a right bundle-branch block and/or left anterior hemiblock occurring individually or together. It leads to complete atrio-ventricular block causing syncope and sudden death.
Regulatory subunit of multiple voltage-gated sodium (Nav) channels directly mediating the depolarization of excitable membranes. Navs, also called VGSCs (voltage-gated sodium channels) or VDSCs (voltage-dependent sodium channels), operate by switching between closed and open conformations depending on the voltage difference across the membrane. In the open conformation they allow Na(+) ions to selectively pass through the pore, along their electrochemical gradient. The influx of Na+ ions provoke
Cell membranePerikaryonCell projectionCell projection, axonSecreted
Generalized epilepsy with febrile seizures plus 1
A rare autosomal dominant, familial condition with incomplete penetrance and large intrafamilial variability. Patients display febrile seizures persisting sometimes beyond the age of 6 years and/or a variety of afebrile seizure types. This disease combines febrile seizures, generalized seizures often precipitated by fever at age 6 years or more, and partial seizures, with a variable degree of severity.
Associates with the striatin-interacting phosphatase and kinase (STRIPAK) core complex, forming the extended (SIKE1:SLMAP)STRIPAK complex (PubMed:29063833, PubMed:30622739). The (SIKE1:SLMAP)STRIPAK complex dephosphorylates STK3 leading to the inhibition of Hippo signaling and the control of cell growth (PubMed:29063833, PubMed:30622739). May play a role during myoblast fusion (By similarity)
Cell membrane, sarcolemmaCytoplasm, myofibril, sarcomere, M lineCytoplasm, myofibril, sarcomere, Z lineCytoplasm, cytoskeleton, microtubule organizing center, centrosomeEndoplasmic reticulum membraneMitochondrion membrane
Variantes genéticas (ClinVar)
406 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 7,756 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
35 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Síndrome Brugada
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
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Outros ensaios clínicos
54 ensaios clínicos encontrados, 13 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 2.402
Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
NaV (voltage-gated sodium) channels drive cardiac excitability. Although NaV1.5 is the primary cardiac isoform, the composition and functional contributions of non-NaV1.5 isoforms in the heart remain unclear. Here, we developed a chemical-genetic mouse model (NaV1.5GX/GX) in which NaV1.5 can be selectively and reversibly inhibited by acyl- and aryl-sulfonamide compounds (GX [acyl- and aryl-sulfonamide compounds typically denoted by the name GX-### and associated items] drugs). Cardiac activity was assessed by electrocardiograms in vivo, and optical mapping was used for imaging of ex vivo hearts. Whole-cell voltage-clamp in tandem with validated toxins and isoform-selective inhibitors were used to examine sodium current composition. NaV1.5GX/GX mice exhibited normal cardiac function at baseline, but acute GX drug administration caused profound conduction defects and arrhythmias. Whole-heart optical mapping revealed dose-dependent chamber-specific sensitivity to NaV1.5 inhibition, with the right ventricle being the most sensitive, followed by the left ventricle, left atrium, and right atrium. Patch-clamp recordings of isolated cardiomyocytes with application of NaV isoform-selective inhibitors showed that NaV1.5 contributed 93% of sodium current in the left ventricle, 79% in the right ventricle, and 78% in the atria. Non-NaV1.5 isoforms were differentially enriched across chambers: NaV1.8 in the left ventricle, NaV1.1/1.3 in the right ventricle, and NaV1.2/1.6/1.7 in the atria. These results reveal a surprising chamber-specific isoform landscape of cardiac sodium currents, which may underlie the right ventricular predominant phenotype of Brugada syndrome. These data highlight non-NaV1.5 isoforms as potential mediators of chamber-specific cardiac pathologies and as pharmacological targets.
Unmasking Brugada syndrome: a case report of diagnostic oversights.
Brugada syndrome (BrS) is an unusual cardiac channelopathy associated with an increased risk of ventricular fibrillation (VF) and sudden cardiac death (SCD), highlighting the critical importance of early diagnosis. A 22-year-old male patient presented with recurrent episodes of syncope, palpitations, and dyspnoea. Initial electrocardiograms (ECGs) showing a Brugada Type 1 pattern were misinterpreted as incomplete right bundle branch blocks. The patient was erroneously diagnosed with epilepsy due to misinterpretation of his syncope episodes as seizures. After further investigations, including a propafenone provocation test and cardiac magnetic resonance imaging (MRI), BrS was confirmed. An electrophysiologic study showed no inducibility of ventricular tachycardia (VT) or VF, and a subcutaneous implantable cardioverter-defibrillator (S-ICD) was implanted for the prevention of SCD. The patient's recovery was successful and uncomplicated. Brugada syndrome patients usually present with SCD, syncope, or severe arrhythmias. Syncope is the most common clinical presentation and identifies patients who could benefit from ICD. Only the Type 1 Brugada pattern is diagnostic, either spontaneous, unmasked by high precordial leads, or by sodium channel inhibition. Implantable cardioverter-defibrillator placement is indicated to prevent SCD. A subcutaneous defibrillator should be considered if the patient has no need for anti-bradyarrhythmia pacing. Early recognition of BrS in patients with syncope is critical, especially for first-line providers interpreting ECGs, as it may prevent SCD.
Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.
Loss-of-function (LOF) variants in SCN5A are associated with Brugada syndrome (BrS), progressive conduction slowing, and other arrhythmias. While the prognosis of SCN5A carriers with a positive sodium channel blocker challenge (SCBC) is established, data on those with negative SCBC are limited. To assess the clinical presentation and prognosis of SCN5A variant carriers with negative SCBC, and compare them to relatives with positive SCBC. We retrospectively included patients from five university hospitals (2000-2024) carrying a pathogenic or likely pathogenic SCN5A variant and negative SCBC. Relatives with the same variant and positive SCBC were also analysed. Patients with spontaneous type 1 ECG, gain-of-function variants, double variants, or ACMG class 1-3 variants were excluded. Clinical, ECG, genetic, and follow-up data were collected. Conduction slowing was evaluated using the PR interval and QRS duration. The cohort included 162 patients from 43 families (median age 37 ± 19 years, 46% male), of whom 69 (43%) had negative SCBC. Among these 69 patients, 25 (36%) had baseline intraventricular conduction defects, and 19 (28%) had first-degree AV block. After a median follow-up of 75 [40-168] months, 52% of patients developed progressive conduction slowing. Negative SCBC patients had fewer conduction defects (36% vs. 70%, p = 0.002) and ICD implantations (1% vs. 23%, P < 0.001). Non-missense variants were associated with more conduction slowing (71% vs. 42%, P = 0.04). This multicentre study provides the largest analysis of SCN5A carriers with negative SCBC, showing excellent arrhythmic prognosis despite frequent progressive conduction slowing.
Paediatric inherited arrhythmia clinic: developing a new model of care.
To describe the development and utilisation of a paediatric inherited arrhythmia clinic (IAC) from 2014 to 2024, including service developments following the introduction of cardiac genetic coordinators (CGC). Retrospective cohort study. The IAC at Children's Hospital Westmead, New South Wales, Australia (approximately 8 million people). Children (aged 0-18 years) referred to the IAC. Clinical and genetic data were extracted and analysed. Description of the development and cohort of the clinic. A monthly clinic preceded by a team meeting (multidisciplinary team) led by a paediatric cardiologist and clinical geneticist was established. Attendees included a genetic counsellor, senior arrhythmia nurse and clinical psychologist.A total of 301 individuals aged 0-18 years were seen over 11 years: 32 in 2014 and 128 in 2024. 85 probands presented with cardiac arrest (37; 44%), syncope (23; 27%) and others (25; 29%). The most common diagnoses were Long QT syndrome 33 (38%), catecholaminergic polymorphic ventricular tachycardia 24 (28%) and Brugada syndrome 6 (7%). 226/301 children had genetic testing; pathogenic/likely pathogenic variants were found in 173/226 (77%), including 121 family members. The most common genes implicated were KCNQ1 (67), KCNH2 (39), SCN5A (28) and RyR2 (15).Dedicated allied health/nursing CGCs appointed in 2023 improved the collation of clinical/family data (particularly new referrals), links to adult cardiology, forensic and regional genetic and paediatric services. The multidisciplinary IAC achieves the phenotyping, genotyping and holistic care of large numbers of children, mostly with cardiac ion channelopathies. Dedicated coordinators provided an incremental improvement to the service.
Inappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?
Atrial fibrillation (AF) is a significant cause of inappropriate implantable cardioverter defibrillator (ICD) shocks. A male patient in his 70s was diagnosed with Brugada syndrome (BrS) in his 40s following ventricular fibrillation-induced syncope. He had implanted a single-lead ICD in his 50s. 34 years after the last syncope, the ICD delivered four inappropriate shocks due to paroxysmal AF, successfully treated with pulmonary vein isolation. Ageing likely increased AF burden, despite its infrequency during follow-up. This case highlights the limitations of single-lead ICDs in AF detection and the importance of tailored management in elderly BrS patients.
Publicações recentes
Making a Start: Discerning Ventricular Arrhythmia Initiation in Brugada Syndrome.
Clinical Profile and Mode of Initiation of Spontaneous Ventricular Tachyarrhythmias in Patients With Brugada Syndrome (START-BrS).
Dietary and emotional triggers of ventricular fibrillation in Brugada syndrome: insights from a long-term subcutaneous implantable cardioverter-defibrillator case report.
Real-world pharmacovigilance insights and clinical safety signal characterization of the classic mood stabilizer‑lithium carbonate: A disproportionality analysis based on FAERS data.
RYR1 Pathogenic Variant in a Patient With Overlapping Features of Brugada Syndrome and Arrhythmogenic Cardiomyopathy.
📚 EuropePMC2.721 artigos no totalmostrando 195
Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
Circulation researchBeyond Common Arrhythmias: Discovering Brugada Syndrome in a Patient With Nonspecific Symptoms.
CureusBrugada Syndrome Unmasked by Fever: A Rare Cause of ST-Segment Elevation.
Journal of acute medicineUnmasking Brugada syndrome: a case report of diagnostic oversights.
European heart journal. Case reportsPredictive Value of Notched P Wave for Life-Threatening Arrhythmias in Patients with Brugada Syndrome: Insights from a Multicenter Prospective Study.
Heart rhythmClinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyPaediatric inherited arrhythmia clinic: developing a new model of care.
BMJ paediatrics openCharacterization of the R893C NaV1.5 mutation in Brugada syndrome.
Frontiers in cardiovascular medicineMagnetic field based investigation of Brugada syndrome.
European biophysics journal : EBJSafety of Intranasal Esketamine Administration in Brugada Syndrome: Two Clinical Case Reports.
Journal of clinical psychopharmacologyPrognostic Value of Small Coved-Type ST-Segment Area in Patients With Spontaneous Type 1 Brugada Syndrome.
Journal of cardiovascular electrophysiologyLow Arrhythmic Risk in Individuals With Brugada ECG Pattern and a Negative dST-Tiso Criterion.
The American journal of cardiologyBrugada Syndrome Unmasked by Kratom Use in a Young Man.
JACC. Case reportsInappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?
BMJ case reportsAI-ECG classification for Brugada syndrome: A study of machine learning techniques to optimise for limited datasets.
PLOS digital health[Cardiogenetics in Piacenza: integrated care and telemedicine for precision medicine].
Giornale italiano di cardiologia (2006)Contemporary Perspectives on J-Wave Syndromes: An Expert Consensus Statement.
Journal of arrhythmiaUnmasking Brugada ECG Pattern in Myotonic Dystrophy Type 2 With an ANK2 Variant.
Pacing and clinical electrophysiology : PACEPropafenone Overdose Presenting With Brugada Phenocopy, QRS Widening, and Ventricular Fibrillation.
JACC. Case reportsAn unexpected diagnosis: Brugada Syndrome in a healthy Kenyan male athlete.
Cardiovascular journal of AfricaDental drugs with proarrhythmic risk in patients with Brugada syndrome: precaution instructions for practices in the field of orofacial pain.
Frontiers in cardiovascular medicineA case report of J wave syndrome with abnormal potentials in both right and left ventricles and reversed J wave in lead V1.
European heart journal. Case reportsBrugada syndrome risk scores: what we've learned and what's next.
Frontiers in cardiovascular medicineAccuracy of final-year paramedic students' ECG interpretation and referrals for transient loss of consciousness, per the NICE CG109 guidelines.
Advances in physiology education[Cardiac arrhythmias-Cellular mechanisms, consequences and challenges in the diagnostics using human models].
HerzPhotoswitches for ion channel regulation: expanding the scope of phototherapy through computational chemistry.
Physical chemistry chemical physics : PCCPExploration of the Role of Cilostazol in Brugada Syndrome: Mechanisms, Therapeutic Potential, and Implications in the Prevention of Ventricular Arrhythmias.
Reviews in cardiovascular medicineSelectivity Filter Mutation in NaV1.5 Promotes Ventricular Tachycardia.
JACC. Clinical electrophysiologyProgramming optimization is crucial for minimizing inappropriate shocks in patients with Brugada syndrome with a subcutaneous implantable cardioverter-defibrillator.
European heart journalInappropriate shocks in Brugada syndrome: a matter of data capture rather than programming?
European heart journalAssociation between epicardial adipose tissue characteristics and ventricular fibrillation in Brugada syndrome.
Heart rhythm[Sudden death recovered: Brugada syndrome, a wolf in sheep's clothing].
MedicinaEfficacy and Safety of Radiofrequency Catheter Ablation in Brugada syndrome: A Systematic Review and Meta-Analysis.
Critical pathways in cardiologyDiagnosis and management of Brugada Syndrome Unmasked by Flecainide challenge in a patient with unexplained ventricular fibrillation: a case report.
Oxford medical case reportsIntravenous anesthesia using remimazolam for a patient with Brugada Syndrome.
Minerva anestesiologicaBrugada syndrome following acute bupropion overdose in a pediatric patient.
Clinical toxicology (Philadelphia, Pa.)Clinical Spectrum of Arrhythmogenic Entities in Spanish Children Carrying Deleterious SCN5A Variants.
International journal of molecular sciencesPhenotypic Severity of SCN5A-Related Bradycardia Is Independent of Dominant-Negative and Coupled Gating Effects.
Circulation. Arrhythmia and electrophysiologyInitial experience with the extravascular implantable cardioverter-defibrillator: Workflow, feasibility and safety.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyBrugada Syndrome: New Implications for Heterozygous Carriers of the Pathogenic SCN5A c.689T>C(p.Ile230Thr) Variant.
American journal of medical genetics. Part AExercise stress test unmasking a Brugada pattern in a survivor of cardiac arrest: a case report.
European heart journal. Case reportsExtravascular implantable cardioverter-defibrillator implantation in a teenager with Brugada syndrome and recurrent inappropriate shocks of subcutaneous implantable cardioverter-defibrillator.
HeartRhythm case reportsA CACNB2b variant causing reduced CaV1.2 current in monozygotic twin brothers with Brugada syndrome.
HeartRhythm case reportsSupraventricular tachycardias in ion channel diseases.
Herzschrittmachertherapie & ElektrophysiologieThe establishment of a GPD1L knockout human embryonic stem cell line (WAe009-A-80) using the CRISPR/Cas9 system.
Stem cell researchCase series of Type 1 Brugada pattern provoked by exercise: a role for diagnostic treadmill stress testing.
European heart journal. Case reportsAnaesthetic management of a pregnant woman with Brugada syndrome undergoing Caesarean section: a case report.
BMC anesthesiologyYield of regular practice of high precordial leads electrocardiogram among asymptomatic upper Egyptian population considering Brugada patterns, a cross-sectional study.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyFinding a new rhythm: child health-related quality of life, parent psychological distress, and unmet needs among families of children with cardiac channelopathies.
Quality of life research : an international journal of quality of life aspects of treatment, care and rehabilitationCOVID-19-induced Brugada phenocopy pattern in a patient with previous myocardial infarction: A case report.
MedicineThe Utility of Genome-Wide Association Studies in Inherited Arrhythmias and Cardiomyopathies.
GenesCurrent perspectives on risk prediction and genetic basis of Brugada syndrome.
Frontiers in cardiovascular medicineMOG1L18F-mediated increase in late sodium current produces Long QT Syndrome.
medRxiv : the preprint server for health sciencesBrugada Phenocopy in Hypothyroidism.
CJC openImpact of physical activity on presentation and prognosis of Brugada syndrome.
Open heartIn vivo mapping of human polymorphic ventricular tachycardia.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingGeographic variations in the prevalence of inherited cardiac diseases and in the incidence of related sudden death.
International journal of cardiologyMultidisciplinary care of kidney donation in Brugada syndrome: A case report.
World journal of transplantationCurrent Perspective for Atrial Fibrillation in Patients with Brugada Syndrome: A Comprehensive Review.
Reviews in cardiovascular medicineECG Markers of Positive Drug Challenge With Ajmaline in Patients With Brugada Syndrome.
Annals of noninvasive electrocardiology : the official journal of the International Society for Holter and Noninvasive Electrocardiology, IncSafety, Utility, and Outcomes of Procainamide Challenge for the Diagnosis and Exclusion of Brugada Syndrome.
CirculationChronic kratom use as a precipitant for acquired Brugada syndrome.
HeartRhythm case reportsEpidemiology of paediatric inherited arrhythmogenic diseases under "Real World" conditions: findings from a 10-year longitudinal study in Eastern Austria.
European journal of pediatricsThe Role of Quinine to Prevent Ventricular Fibrillation and ICD Shocks in Early Repolarization Syndrome.
JACC. Case reportsOxaliplatin and amlodipine combination induced reversible Brugada phenocopy: A case report.
MedicinePhenotypes in Brugada syndrome with different genotypes triggered by fever or inflammation using gene-edited iPSCs.
Stem cell research & therapyN-palmitoyl glycine differentially modulates TRPM4 and TRPC5 and is causally linked to Brugada syndrome.
Communications biologyGeneration of a homozygous and heterozygous iPSC line carrying a variant of uncertain significance in CACNA1C, associated with Brugada syndrome.
Stem cell researchClinical presentation and outcomes of patients with biallelic SCN5A variants: A systematic review.
Heart rhythm O2A SCN5A gene mutation (c.1768 A>C, p.K590Q) in a patient with Brugada syndrome: a case report.
American journal of translational researchBiphasic effects on human atrial arrhythmogenicity of L-type calcium channel mutations associated with a Brugada/Short QT overlap syndrome - insights from a multiscale simulation study.
PLoS computational biologyAutomated patch clamp data improve variant classification and penetrance stratification for SCN5A-Brugada syndrome.
European heart journalReal-world pharmacovigilance and clinical risks of fluvoxamine: A disproportionality analysis based on FAERS data.
Journal of affective disordersTime to Benefit of Epicardial Ablation in Malignant Forms of Brugada Syndrome: A Reconstructed Individual Patient Data Meta-Analysis.
Journal of cardiovascular electrophysiologyBrugada Syndrome: an exemplar for the genomic basis of sudden death.
European journal of human genetics : EJHGHybrid mini-thoracotomy for Brugada syndrome: epicardial substrate characterization and ablation-results from UNCOVER(BrS) study.
Frontiers in cardiovascular medicineUnmasking Type 1 Brugada Pattern Following Pilsicainide Administration for Paroxysmal Atrial Fibrillation: A Case Report.
JMA journalCoupling of USP10 de-ubiquitination and chaperone-mediated autophagy causes cardiac sodium channel degradation and cardiac arrhythmias.
Cardiovascular researchKnowledge gaps and educational needs in the perioperative management of genetic arrhythmia syndromes: a survey of the American Society of Anesthesiologists.
British journal of anaesthesiaCardiac Channelopathies in the Pediatric Patient: Brugada Syndrome.
Cardiac electrophysiology clinicsSepsis related Brugada syndrome in community acquired pneumonia due to Legionella pneumophila: a case report.
BMC pulmonary medicineFever, Syncope, and the Brugada Dilemma: Navigating the Complexities of ICD Decision-Making in an Atypical Presentation.
Case reports in cardiologySafe Anesthesia for Brugada Syndrome in Pregnancy: Insights From a Retrospective Case Series.
CureusNew mechanistic observation: Ajmaline-induced epicardial "zigzag" electrogram pattern in Brugada syndrome.
Heart rhythmHigh-density atrial mapping, P-wave analysis, and computational simulations in Brugada syndrome: Enhancing the understanding of atrial fibrillation.
Heart rhythm O2Gene Therapy for Inherited Cardiac Arrhythmias.
Journal of cardiovascular translational researchImpact of Atrial Fibrillation on the Outcome of Patients with Brugada Syndrome: A Meta-Analysis.
Journal of cardiovascular development and diseaseBrugada syndrome diagnosed in a young woman occurring postpartum: case report and literature review.
Frontiers in cardiovascular medicineIntegrated Genomic Approaches to Elucidate the Genetic Basis of Brugada Syndrome in Taiwanese Patients.
Bioinformatics and biology insights[Research progress on cardiac L-type calcium channel mutations in Brugada syndrome and early repolarization syndrome].
Zhonghua xin xue guan bing za zhiEpigenetic regulation of electromechanical continuity might determine phenotypic heterogeneity in SCN5A mutation carriers in Brugada syndrome.
Scientific reportsCRISPR/Cas9-Based Gene Editing for Correcting Inherited Channelopathies.
Cardiology in reviewBeyond the sodium channel: Proteomic clues to the Brugada syndrome substrate.
Heart rhythmCharacterization of a Splice-Altering Variant in SCN5A Associated With Brugada Syndrome - Insights Into Splice Error Correction.
Circulation journal : official journal of the Japanese Circulation SocietyImmune Checkpoint Inhibitor Myocarditis Masquerading as Brugada Syndrome.
JACC. Case reportsWnt/β-catenin signaling regulates cardiac Cx43 in a metabolic substrate-dependent manner.
Journal of molecular and cellular cardiology plusGenetic variants associated with ventricular arrhythmias during ajmaline test in Brugada syndrome.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyMultiple anthropometric characteristics and Brugada syndrome: A Mendelian randomization study.
MedicineFrom blood to heartbeat: Plasma proteins and Brugada syndrome revealed by Mendelian randomization.
Heart rhythmSubcutaneous implantable cardiac defibrillator in Brugada syndrome: a prospective multicentre study.
European heart journalLow-dose oral flecainide provocation test for Brugada syndrome: a case series.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyAccessory pathway unmasked by adenosine in a patient with unexplained cardiac arrest: a case report.
European heart journal. Case reportsNovel Loss-of-Function Variant, Cys1384Phe, in SCN5A Is Associated With an Overlapping Phenotype of Brugada Syndrome, Sick Sinus Syndrome, and Dilated Cardiomyopathy.
Circulation journal : official journal of the Japanese Circulation SocietyBrugada Phenocopy in a Child With Parvovirus B19 Myocarditis.
JACC. Case reportsDistinct patterns of ventricular fibrillation onset in primary electrical diseases: insights from a retrospective multicentre registry.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyBrugada ECG Pattern in Wilson Disease: Genetic Coincidence or Triggered Phenocopy?
JACC. Case reportsPredictive value of Shanghai score system in patients with drug-induced type 1 Brugada electrocardiographic pattern.
Clinical research in cardiology : official journal of the German Cardiac SocietyMethadone Blockade of Inward Rectifier Potassium Current Promotes Both Early and Delayed Repolarization Arrhythmias: Mechanistic Insights From Computational Modeling.
Journal of the American Heart AssociationTemperature-Induced ICD Malfunction in a Patient With Brugada Syndrome.
JACC. Case reportsPyrexia-Induced Brugada Syndrome Unmasked by Community-Acquired Pneumonia: A Case Report.
CureusBradycardia-Dependent Transient Rise in the Atrial Lead Capture Threshold 21 Years After the Lead Implantation.
Pacing and clinical electrophysiology : PACEBrugada ECG Pattern in A Caucasian Patient with Severe Hypothyroidism.
European journal of case reports in internal medicineRanolazine-Induced Type 1 Brugada Pattern.
JACC. Case reportsFunctional validation of the Nav1.5/R1432G Brugada syndrome variant using a Nav1.5 knockout iPSC-derived cardiomyocyte model.
Biochemical and biophysical research communicationsManaging Brugada Syndrome in a Private Dental Practice: A Structured Case-Based Review.
CureusUncommon and Accessory Electrocardiographic Findings in Brugada Syndrome: A Review.
Journal of clinical medicineResuscitated cardiac arrest due to Brugada syndrome in an Ethiopian man: a case report.
BMC cardiovascular disordersCatheter ablation to prevent malignant ventricular arrhythmias in symptomatic Brugada syndrome: A systematic review and meta-analysis.
Heart rhythmBrugada Syndrome and the Need for Device-Specific ICD Indications.
JACC. Clinical electrophysiologyThe Clinical Significance of Atrial Fibrillation in Non-High-Risk Brugada Syndrome: The BruFib Study.
JACC. Clinical electrophysiologyAtrial Fibrillation in Brugada Syndrome: Sorting the Wheat From the Chaff.
JACC. Clinical electrophysiologyAutomated Assessment to Predict Lethal Arrhythmias in Brugada Syndrome: Significance of R' in Lead III.
Journal of arrhythmiaBrugada syndrome in the forensic field: what do we know to date?
Frontiers in cardiovascular medicineCatheter Ablation vs. Standard Implantable Cardioverter Defibrillator Therapy in Symptomatic Brugada Syndrome: A Systematic Review and Meta-Analysis of Controlled Studies.
Medical sciences (Basel, Switzerland)Undiagnosed Brugada Syndrome Presenting as Ventricular Fibrillation Cardiac Arrest.
JACC. Case reportsMultidisciplinary Care Approach to Asymptomatic Brugada Syndrome in Pregnancy: A Case Report.
Reports (MDPI)Gene Therapy for Cardiac Arrhythmias: Mechanisms, Modalities and Therapeutic Applications.
Medical sciences (Basel, Switzerland)SNTA1-deficient human cardiomyocytes show shorter field potential duration and slower conduction velocity.
Scientific reportsBeyond the Pleura: A Case Report of Type 1 Brugada Phenocopy in the Setting of Empyema.
CureusA Classic Pattern of Type 1 Brugada Syndrome on Electrocardiogram.
QJM : monthly journal of the Association of PhysiciansHow can we improve on selecting the appropriate therapy in Brugada syndrome?
Expert review of cardiovascular therapyIncessant Electrical Storm in a Patient With Brugada Syndrome Provoked by Previously Unreported Syndrome-Inducing Medication.
JACC. Case reportsSearching for the Holy Grail in risk stratification in patients with Brugada syndrome.
Indian pacing and electrophysiology journalUsefulness of aVR sign as a predictor of sudden cardiac death or appropriate ICD shocks in Brugada syndrome: A systematic review and meta-analysis of cohort studies.
Indian pacing and electrophysiology journalA Comprehensive Review of a Mechanism-Based Ventricular Electrical Storm Management.
Journal of clinical medicineThe role of adrenaline in comprehensive management of electrical storms in high-risk Brugada syndrome with rare SCN5A mutation: a case report from medical stabilization to implantable cardioverter-defibrillator implantation.
European heart journal. Case reportsThe Utility of Notched P-Wave on the Occurrence of Ventricular Fibrillation in Patients With Brugada Syndrome.
Journal of arrhythmiaBeyond the type 1 pattern: comprehensive risk stratification in Brugada syndrome.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingManagement of channelopathies in children.
Herzschrittmachertherapie & ElektrophysiologieTheory and Practice of Present Clinical Use of Quinidine in the Management of Cardiac Arrhythmias.
Indian pacing and electrophysiology journalCharacterization of reflex syncope in Brugada syndrome: a literature review.
Journal of cardiovascular medicine (Hagerstown, Md.)Baseline quantitative ECG parameters do not fully predict class 1 antiarrhythmic effect in Brugada patient: Drug-induced ECG changes in Brugada patients.
Journal of electrocardiologyHypokalaemia and bradycardia unmask the loss-of-function phenotype of a Brugada Syndrome SCN5A mutation.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyRisk stratification of major arrhythmia events in Japanese patients with Brugada syndrome using machine learning models.
Heart rhythm O2Genetic Basis of Brugada Syndrome.
BiomedicinesSudden Cardiac Arrest and Death in Sports: An Updated Overview of Epidemiology, Etiologies, and Prevention Strategies, with Emphasis on Inherited Cardiomyopathies.
Seminars in thrombosis and hemostasisManagement of Dental Demineralization in a Patient with Complex Medical Conditions: A Case Report and Clinical Outcomes.
Reports (MDPI)The Diagnostic Value of Copy Number Variants in Genetic Cardiomyopathies and Channelopathies.
Journal of cardiovascular development and diseaseA machine learning platform for genotype-specific cardiotoxicity risk prediction using patient-derived iPSC-CMs.
Journal of advanced researchInherited arrhythmia syndromes - Cardiogenetics.
Indian pacing and electrophysiology journalSynthetic electrocardiograms for Brugada syndrome: from data generation to expert cardiologists evaluation.
European heart journal. Digital healthSCN5A mutation-associated sick sinus syndrome revealed by atrial flutter in a pediatric patient.
Journal of cardiology casesRegional Anesthesia in Brugada Syndrome-Worth the Risk? A Dual-Case Report.
A&A practiceWide QRS monomorphic tachycardia induced by ajmaline infusion.
HeartRhythm case reportsFever as a Catalyst for Life-Threatening Arrhythmias in Brugada Syndrome: A Rare Case of Brugada Syndrome Unmasked in a Young Male.
Clinical case reportsAccumulating evidence for epicardial ablation in malignant forms of Brugada syndrome: summary of two randomized clinical trials.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyPortuguese National Registry on Cardiac Electrophysiology, 2021 and 2022.
Revista portuguesa de cardiologia : orgao oficial da Sociedade Portuguesa de Cardiologia = Portuguese journal of cardiology : an official journal of the Portuguese Society of CardiologyOptimizing C-Type Natriuretic Peptide and Receptor Expression Analysis with Droplet Digital™ PCR: Advancing Biomarker Discovery for Brugada Syndrome?
BiomoleculesSafety of propofol use for general anaesthesia in Brugada syndrome patients: a 15-year experience.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyDemographics, Clinical Features and Genetics of Common Inherited Arrhythmias in Oman.
Journal of the Saudi Heart AssociationChallenges in the treatment of patients with Brugada syndrome: The current role of ablation.
Kardiologia polskaBrugada Phenocopy in a Critical Obstetric Patient: A Case Report.
Case reports in medicineCaveolin 3 Variant T78M in a Large Family With Brugada Syndrome: Clinical Features and Coexistence of ADRB1 and GRK5 Gene Mutation.
Journal of cardiovascular electrophysiologyCharacteristics of patients with Brugada syndrome and monomorphic ventricular tachycardia.
Heart rhythmMolecular mechanism for the interaction of MOG1 with the intracellular loop II of cardiac sodium channel Nav1.5 and its role in arrhythmias.
Journal of molecular and cellular cardiologyEffects of Arrhythmias on the Mortality and Morbidity in Pediatric Patients With Seizure Disorders.
Pediatric neurologyDual pathology of lower urinary tract obstruction and Brugada syndrome: A rare cause of non-immune hydrops fetalis.
European journal of obstetrics, gynecology, and reproductive biologySafe administration of venetoclax-obinutuzumab in a chronic lymphocytic leukemia patient with Brugada syndrome.
Annals of hematology[Variations on a Brugada syndrome].
Atencion primariaMotor induced syncope after cerebral infarction: A case report and literature review.
SAGE open medical case reportsAssessment of activation delay in the right ventricular outflow tract as a potential complementary diagnostic tool for Brugada Syndrome.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyDiagnosing Brugada syndrome: look for right ventricular outflow tract conduction delay.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyUpdates on inherited arrhythmia syndromes (Brugada syndrome, long QT syndrome, CPVT, ARVC).
Progress in cardiovascular diseasesWide complex tachycardia and brugada electrocardiographic pattern induced by propafenone: A rare and unpredictable pro-arrhythmic effect.
Journal of electrocardiologySelectivity filter mutation in Na V 1.5 promotes ventricular tachycardia.
bioRxiv : the preprint server for biologySumatriptan Induced Brugada Syndrome, a Rare Presentation of a Commonly Used Drug.
Clinical case reportsA systematic review and meta-analysis of artificial intelligence ECGs performance in the diagnosis of Brugada Syndrome.
Journal of interventional cardiac electrophysiology : an international journal of arrhythmias and pacingA case of Hyperkalemia-induced Brugada Phenocopy: a rare but serious electrocardiographic imposter.
Oxford medical case reportsDecades of Defibrillation in Brugada Syndrome: Appropriate or Inappropriate?
JACC. Clinical electrophysiologyLow Expression Levels of Sodium Channels in the Right Ventricular Outflow Tract Underly the Genesis of the Characteristic Electrocardiogram Waveform in Brugada Syndrome.
Circulation journal : official journal of the Japanese Circulation SocietyEpicardial ablation in high-risk Brugada syndrome to prevent ventricular fibrillation: results from a randomized clinical trial.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologySyncope and "Normal" ECG: Is Brugada Syndrome the Culprit?
CureusPediatric arrhythmias: a comprehensive integrative review, symptom-based conceptual framework, and practical care guide.
Boletin medico del Hospital Infantil de Mexico[Pharmacogenetic exploration of genes associated with cardiac ion channel disease].
Zhonghua xin xue guan bing za zhiAn NGS-based approach for precise and footprint-free CRISPR-based gene editing in human stem cells.
Methods (San Diego, Calif.)Understanding Brugada Pattern in Elderly Patients with COVID-19: A Case Study.
The American journal of case reportsSudden Cardiac Death in Pregnant Women-Literature Review and Autopsy Findings.
Diagnostics (Basel, Switzerland)Entrectinib-Induced Brugada Syndrome Leading to Ventricular Tachycardia in A Patient with ROS1 Fusion-Positive Lung Adenocarcinoma.
European journal of case reports in internal medicineSystematic triplet expansion testing in patients with genetically negative Brugada syndrome.
Revista espanola de cardiologia (English ed.)In silico modelling of multi-electrode arrays for enhancing cardiac drug testing on hiPSC-CM heterogeneous tissues.
The Journal of physiologyIndication of Implantable Cardioverter Defibrillators for Ventricular Arrhythmias in Coronary Spastic Angina.
Pacing and clinical electrophysiology : PACELong-term of epicardial radiofrequency ablation and benefit for recurrent ventricular arrhythmia in Brugada syndrome: A systematic review and meta-analysis.
Journal of arrhythmiaEffectiveness of resveratrol in inducing adeno-associated virus as a potential definitive therapy for SCN5A mutation in Brugada syndrome: a narrative review.
The Egyptian heart journal : (EHJ) : official bulletin of the Egyptian Society of CardiologyEpisodic long-lasting atrial standstill associated with an SCN5A variant resulting in atrial pacing failure: Is an atrial lead necessary for familial atrial standstill?
HeartRhythm case reportsMultiparametric models for predicting major arrhythmic events in Brugada syndrome: a systematic review and critical appraisal.
Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of CardiologyAssociações
Organizações que acompanham esta doença — pra ter apoio e orientação
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Comunidades
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Sodium Channel Isoform Diversity Underlies Chamber-Specific Cardiac Excitability.
- Unmasking Brugada syndrome: a case report of diagnostic oversights.
- Clinical profile and prognosis of brugada syndrome SCN5A variant carriers with negative sodium channel blocker challenge.Europace : European pacing, arrhythmias, and cardiac electrophysiology : journal of the working groups on cardiac pacing, arrhythmias, and cardiac cellular electrophysiology of the European Society of Cardiology· 2026· PMID 41812135mais citado
- Paediatric inherited arrhythmia clinic: developing a new model of care.
- Inappropriate ICD shock occurred 34 years after the last syncope in a symptomatic Brugada patient: does arrhythmia risk shift from VF to AF with age in Brugada syndrome?
- Making a Start: Discerning Ventricular Arrhythmia Initiation in Brugada Syndrome.
- Clinical Profile and Mode of Initiation of Spontaneous Ventricular Tachyarrhythmias in Patients With Brugada Syndrome (START-BrS).
- Dietary and emotional triggers of ventricular fibrillation in Brugada syndrome: insights from a long-term subcutaneous implantable cardioverter-defibrillator case report.
- Real-world pharmacovigilance insights and clinical safety signal characterization of the classic mood stabilizer‑lithium carbonate: A disproportionality analysis based on FAERS data.
- RYR1 Pathogenic Variant in a Patient With Overlapping Features of Brugada Syndrome and Arrhythmogenic Cardiomyopathy.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:130(Orphanet)
- MONDO:0015263(MONDO)
- GARD:1030(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q599683(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
