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1.
Intern Med ; 58(21): 3099-3102, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31685785

RESUMO

A 30-year-old woman was referred to our hospital to undergo an evaluation for suspected Brugada syndrome. She showed no symptoms, but had a strong family history of sudden cardiac death. During observation, Holter electrocardiography (ECG), which had been performed to investigate her symptoms of occasional dizziness, showed a sinus node dysfunction with an occasional long sinus pause. An implantable cardioverter defibrillator (ICD) was therefore put in place, and bradycardia pacing from the ICD relieved those symptoms during the subsequent 18-month follow-up. The patient completed two pregnancies during the follow-up period. No symptomatic changes occurred during the pregnancies, but ECG indicated that an ST segment elevation in the right precordial leads was attenuated during the second and third trimesters of both pregnancies.


Assuntos
Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Complicações Cardiovasculares na Gravidez/terapia , Adulto , Bradicardia/terapia , Síndrome de Brugada/diagnóstico , Morte Súbita Cardíaca , Eletrocardiografia , Eletrocardiografia Ambulatorial , Feminino , Humanos , Linhagem , Gravidez , Síndrome do Nó Sinusal/diagnóstico , Síndrome do Nó Sinusal/terapia
2.
Zhonghua Er Ke Za Zhi ; 57(9): 700-704, 2019 Sep 02.
Artigo em Chinês | MEDLINE | ID: mdl-31530356

RESUMO

Objective: To analyze and summarize the diagnosis and treatment experience of common inherited cardiac arrhythmia syndrome in pediatric patients, and explore the most appropriate therapy. Methods: A retrospective review identified 30 pediatric cases (19 males, 11 females) diagnosed with long QT syndrome (LQTS), Brugada syndrome (BrS), catecholaminergic polymorphic ventricular tachycardia (CPVT), hypertrophic cardiomyopathy (HCM), arrhythmogenc right ventricular cardiomyopathy (ARVC) from January 2008 to December 2018 in the Pediatric Cardiology Department, Guangdong Provincial People's Hospital. Data obtained included the diagnosis, treatment and follow-up outcome. Results: The most common inherited cardiac arrhythmia syndromes were LQTS (n=14) including 1 case with epilepsy, CPVT (n=5), HCM (n=7), ARVC (n=1), and BrS (n=3). Twenty-seven cases were admitted to hospital due to syncope, whereas the remaining 3 cases of BrS had not presented with syncope before admission. The average onset age of inherited arrhythmia was (10.0±3.3) years. Genetic testing was performed on 20 patients. The median follow-up time was 40 months. Among 15 patients who underwent implantable cardioverter defibrillator (ICD) and survived, 2 patients had frequent ICD discharge. One patient underwent radiofrequency ablation, and the other one received left cardiac sympathetic denervation and an increased ICD defibrillation threshold, and the number of ICD discharge was significantly reduced. Among 10 patients who received drug therapy, 4 patients including two patients who discontinued treatment without advices died. Two patients whose parents refused treatment died, 1 case diagnosed with unexplained sudden cerebral death, and the remaining 2 cases without indication for drug therapy survived without any treatment. Conclusions: Mortality rate is high in pediatric patients with inherited cardiac arrhythmia and syncope. The therapeutic effect of drugs are not satisfactory, ICD implantation is the most effective treatment to prevent sudden cardiac death currently, but the postoperative frequent discharge should be brought to the forefront and handled in time.


Assuntos
Displasia Arritmogênica Ventricular Direita/genética , Síndrome de Brugada/genética , Cardiomiopatia Hipertrófica/genética , Síndrome do QT Longo/genética , Taquicardia Ventricular/genética , Arritmias Cardíacas , Displasia Arritmogênica Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/mortalidade , Displasia Arritmogênica Ventricular Direita/terapia , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/mortalidade , Síndrome de Brugada/terapia , Cardiomiopatia Hipertrófica/diagnóstico , Cardiomiopatia Hipertrófica/mortalidade , Cardiomiopatia Hipertrófica/terapia , Criança , Morte Súbita Cardíaca , Desfibriladores Implantáveis , Feminino , Seguimentos , Testes Genéticos , Humanos , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/mortalidade , Síndrome do QT Longo/terapia , Masculino , Estudos Retrospectivos , Síncope , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Taquicardia Ventricular/terapia , Resultado do Tratamento
3.
Rev Port Cardiol ; 38(7): 503-509, 2019 07.
Artigo em Inglês, Português | MEDLINE | ID: mdl-31522937

RESUMO

In up to one-third of cases of sudden death, the medico-legal autopsy finding is inconclusive, and the option to perform a molecular autopsy is covered in international guidelines. The importance of postmortem genetic testing lies in its ability to identify hereditary diseases, often those with an autosomal dominant transmission pattern, and, through consultations and screening of relatives, to identify family members with a pathogenic mutation, who are often asymptomatic, providing an opportunity to change the course of their lives. The authors present three clinical cases that highlight the importance of postmortem genetic studies and family studies, as well as the integration of the data obtained in a cardiology consultation, which may be for arrhythmology, coronary disease or cardiomyopathy, depending on the specific condition. This could modify the course of the disease in many relatives.


Assuntos
Síndrome de Brugada/diagnóstico , Morte Súbita Cardíaca/patologia , Testes Genéticos/métodos , Adolescente , Adulto , Autopsia , Síndrome de Brugada/complicações , Síndrome de Brugada/genética , Morte Súbita Cardíaca/etiologia , Evolução Fatal , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
4.
Am J Cardiol ; 124(5): 715-722, 2019 09 01.
Artigo em Inglês | MEDLINE | ID: mdl-31284935

RESUMO

Some Brugada syndrome (BrS) patients have been suspected of being in the initial state of arrhythmogenic right ventricular cardiomyopathy (ARVC). This study aimed to clarify the electrocardiographic (ECG) and clinical differences between BrS and ARVC in long-term follow-up (mean 11.9 ± 6.3 years). A total of 50 BrS and 65 ARVC patients with fatal ventricular tachyarrhythmia (VTA) were evaluated according to the revised Task Force Criteria for ARVC. Based on the current diagnostic criteria concerning electrocardiographic, repolarization abnormality was positive in 2.0% and 2.6% of BrS patients at baseline and follow-up, and depolarization abnormality was positive in 6.0% and 12.8% of BrS patients at baseline and follow-up, respectively. At baseline, none of the BrS patients were definitively diagnosed with ARVC. Considering patients' lives since birth, Kaplan-Meier analysis revealed that age at first VTA attack showed the same tendency between the groups (BrS: mean 42.2 ± 12.5 years old vs ARVC: mean 44.8 ± 13.7 years old, log-rank p = 0.123). Moreover, the incidence of VTA recurrence was similar between the groups during follow-up (log-rank p = 0.906). Incidence of sustained monomorphic ventricular tachycardia was significantly higher in ARVC than in BrS whereas the opposite was true for ventricular fibrillation (log-rank p <0.001 and p <0.001, respectively). None of the diagnoses of BrS patients were changed to ARVC during follow-up. During long-term follow-up, although age at first VTA attack and VTA recurrence were similar, BrS consistently exhibited features that differed from those of ARVC.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Síndrome de Brugada/diagnóstico , Eletrocardiografia , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/mortalidade , Adulto , Fatores Etários , Displasia Arritmogênica Ventricular Direita/mortalidade , Síndrome de Brugada/mortalidade , Estudos de Coortes , Seguimentos , Humanos , Japão , Estimativa de Kaplan-Meier , Pessoa de Meia-Idade , Estudos Retrospectivos , Medição de Risco , Índice de Gravidade de Doença , Fatores Sexuais , Análise de Sobrevida , Fatores de Tempo
5.
BMJ Case Rep ; 12(7)2019 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-31300599

RESUMO

A prominent coved or saddle-shaped ST-segment elevation followed by T wave changes in V1-V3 and in the absence of other identifiable cause is termed as Brugada pattern. This pattern in the presence of documented ventricular arrhythmias or its symptoms (syncope, seizure) or significant family for sudden cardiac death or abovementioned ECG changes is called Brugada syndrome. Here we present a comprehensive literature review on the precipitation factors of Brugada syndrome/pattern by various stimuli, its presentation, associations, management and outcomes. We are also presenting a unique case of Brugada pattern where the patient's Brugada pattern was unmasked at an extreme old age by infection.


Assuntos
Síndrome de Brugada/diagnóstico , Dor no Peito/etiologia , Produtos de Degradação da Fibrina e do Fibrinogênio/metabolismo , Hipóxia/etiologia , Doença de Parkinson/fisiopatologia , Idoso de 80 Anos ou mais , Síndrome de Brugada/terapia , Eletrocardiografia , Humanos , Hipóxia/fisiopatologia , Masculino , Conforto do Paciente
6.
Pediatrics ; 144(1)2019 07.
Artigo em Inglês | MEDLINE | ID: mdl-31189615

RESUMO

This is the case of a 9-year-old girl who initially presents with episodes of syncope and potentially concerning family history. An extensive evaluation is unrevealing, and she appears to have simple benign autonomic dysfunction. Eventually, a rare and life-threatening disease is uncovered, and she receives appropriate treatment. The case report highlights the persistence and suspicion of the managing providers that ultimately allowed the diagnosis to be revealed as well as some of the key features of the underlying disease.


Assuntos
Síndrome de Brugada/diagnóstico , Síncope/etiologia , Síndrome de Brugada/complicações , Criança , Diagnóstico Diferencial , Feminino , Humanos
7.
Prog Cardiovasc Dis ; 62(3): 227-234, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31078562

RESUMO

Sudden cardiac death (SCD) accounts for 230,000 to 350,000 deaths per year in the United States. While many who suffer SCD possess underlying structural heart disease, inherited arrhythmia syndromes are also important contributors to SCD. In patients without structural heart disease, inherited arrhythmia syndromes are identified in >50% of the remaining patients. In this review, we will focus on the presentation and management of three major inherited syndromes that lead to SCD in patients without structural heart disease: long QT syndrome (LQTS), Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia (CPVT). All these syndromes can present in patients who are asymptomatic or, at the other extreme, with syncope and even SCD. LQTS syndrome and Brugada are the most common inherited arrhythmogenic syndromes, while CPVT is much rarer. Determining which patients need pharmacologic treatment and those who would benefit from more aggressive treatment such as sympathectomies and implantable defibrillators is not always clear.


Assuntos
Síndrome de Brugada , Morte Súbita Cardíaca/etiologia , Síndrome do QT Longo , Taquicardia Ventricular , Síndrome de Brugada/complicações , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Eletrocardiografia , Humanos , Síndrome do QT Longo/complicações , Síndrome do QT Longo/diagnóstico , Síndrome do QT Longo/terapia , Medição de Risco , Taquicardia Ventricular/complicações , Taquicardia Ventricular/diagnóstico , Taquicardia Ventricular/terapia
8.
Int J Mol Sci ; 20(9)2019 Apr 29.
Artigo em Inglês | MEDLINE | ID: mdl-31032819

RESUMO

Brugada syndrome is an inherited, rare cardiac arrhythmogenic disease, associated with sudden cardiac death. It accounts for up to 20% of sudden deaths in patients without structural cardiac abnormalities. The majority of mutations involve the cardiac sodium channel gene SCN5A and give rise to classical abnormal electrocardiogram with ST segment elevation in the right precordial leads V1 to V3 and a predisposition to ventricular fibrillation. The pathophysiological mechanisms of Brugada syndrome have been investigated using model systems including transgenic mice, canine heart preparations, and expression systems to study different SCN5A mutations. These models have a number of limitations. The recent development of pluripotent stem cell technology creates an opportunity to study cardiomyocytes derived from patients and healthy individuals. To date, only a few studies have been done using Brugada syndrome patient-specific iPS-CM, which have provided novel insights into the mechanisms and pathophysiology of Brugada syndrome. This review provides an evaluation of the strengths and limitations of each of these model systems and summarizes the key mechanisms that have been identified to date.


Assuntos
Síndrome de Brugada/etiologia , Síndrome de Brugada/fisiopatologia , Modelos Animais de Doenças , Animais , Animais Geneticamente Modificados , Biomarcadores , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/terapia , Diferenciação Celular , Suscetibilidade a Doenças , Cães , Predisposição Genética para Doença , Humanos , Células-Tronco Pluripotentes Induzidas/citologia , Células-Tronco Pluripotentes Induzidas/metabolismo , Camundongos , Mutação , Miócitos Cardíacos/citologia , Miócitos Cardíacos/metabolismo , Canal de Sódio Disparado por Voltagem NAV1.5/genética
9.
J Am Coll Cardiol ; 73(14): 1756-1765, 2019 04 16.
Artigo em Inglês | MEDLINE | ID: mdl-30975291

RESUMO

BACKGROUND: Information on young patients with Brugada syndrome (BrS) and arrhythmic events (AEs) is limited. OBJECTIVES: The purpose of this study was to describe their characteristics and management as well as risk factors for AE recurrence. METHODS: A total of 57 patients (age ≤20 years), all with BrS and AEs, were divided into pediatric (age ≤12 years; n = 26) and adolescents (age 13 to 20 years; n = 31). RESULTS: Patients' median age at time of first AE was 14 years, with a majority of males (74%), Caucasians (70%), and probands (79%) who presented as aborted cardiac arrest (84%). A significant proportion of patients (28%) exhibited fever-related AE. Family history of sudden cardiac death (SCD), prior syncope, spontaneous type 1 Brugada electrocardiogram (ECG), inducible ventricular fibrillation at electrophysiological study, and SCN5A mutations were present in 26%, 49%, 65%, 28%, and 58% of patients, respectively. The pediatric group differed from the adolescents, with a greater proportion of females, Caucasians, fever-related AEs, and spontaneous type-1 ECG. During follow-up, 68% of pediatric and 64% of adolescents had recurrent AE, with median time of 9.9 and 27.0 months, respectively. Approximately one-third of recurrent AEs occurred on quinidine therapy, and among the pediatric group, 60% of recurrent AEs were fever-related. Risk factors for recurrent AE included sinus node dysfunction, atrial arrhythmias, intraventricular conduction delay, or large S-wave on ECG lead I in the pediatric group and the presence of SCN5A mutation among adolescents. CONCLUSIONS: Young BrS patients with AE represent a very arrhythmogenic group. Current management after first arrhythmia episode is associated with high recurrence rate. Alternative therapies, besides defibrillator implantation, should be considered.


Assuntos
Arritmias Cardíacas , Síndrome de Brugada , Parada Cardíaca , Quinidina/uso terapêutico , Medição de Risco/métodos , Prevenção Secundária/métodos , Técnicas de Ablação/métodos , Adolescente , Antiarrítmicos/uso terapêutico , Arritmias Cardíacas/diagnóstico , Arritmias Cardíacas/epidemiologia , Arritmias Cardíacas/genética , Arritmias Cardíacas/prevenção & controle , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/epidemiologia , Síndrome de Brugada/fisiopatologia , Síndrome de Brugada/terapia , Criança , Desfibriladores Implantáveis/estatística & dados numéricos , Eletrocardiografia/métodos , Técnicas Eletrofisiológicas Cardíacas/métodos , Feminino , Parada Cardíaca/diagnóstico , Parada Cardíaca/prevenção & controle , Humanos , Masculino , Anamnese/estatística & dados numéricos , Fatores de Risco , Síncope/diagnóstico , Síncope/epidemiologia , Síncope/etiologia , Adulto Jovem
11.
Clin Res Cardiol ; 108(10): 1147-1162, 2019 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30868222

RESUMO

OBJECTIVES: As underlying heart diseases of right ventricular tachyarrhythmias, ARVC causes wall-motion abnormalities based on fibrofatty myocardial degeneration, while RVOT-VT and BrS are thought to lack phenotypic MR characteristics. To examine whether cardiac magnetic resonance (CMR) feature tracking (FT) in addition to ARVC objectively facilitates detection of myocardial functional impairments in RVOT-VT and BrS. METHODS: Cine MR datasets of four retrospectively enrolled, age-matched study groups [n = 65; 16 ARVC, 26 RVOT-VT, 9 BrS, 14 healthy volunteers (HV)] were independently assessed by two distinctly experienced investigators regarding myocardial function using CMR-FT. Global strain (%) and strainrate (s-1) in radial and longitudinal orientation were assessed at RVOT as well as for left (LV) and right (RV) ventricle at a basal, medial and apical section with the addition of a biventricular circumferential orientation. RESULTS: RV longitudinal and radial basal strain (%) in ARVC (- 12.9 ± 4.2; 11.4 ± 5.1) were significantly impaired compared to RVOT-VT (- 18.0 ± 2.5, p ≤ 0.005; 16.4 ± 5.2, p ≤ 0.05). Synergistically, RVOT endocardial radial strain (%) in ARVC (33.8 ± 22.7) was significantly lower (p ≤ 0.05) than in RVOT-VT (54.3 ± 14.5). For differentiation against BrS, RV basal and medial radial strain values (%) (13.3 ± 6.1; 11.8 ± 2.9) were significantly reduced when compared to HV (21.0 ± 6.9, p ≤ 0.05; 20.1 ± 6.6, p ≤ 0.005), even in case of a normal RV ejection fraction (EF) (> 45%; n = 6) (12.0 ± 2.7 vs. 20.1 ± 6.6, p ≤ 0.05). CONCLUSIONS: CMR-FT facilitates relevant differentiation in patients with right ventricular tachyarrhythmias: between ARVC against RVOT-VT and HV as well as between BrS with even a preserved EF against HV.


Assuntos
Displasia Arritmogênica Ventricular Direita/diagnóstico , Síndrome de Brugada/diagnóstico , Eletrocardiografia/métodos , Ventrículos do Coração/diagnóstico por imagem , Imagem Cinética por Ressonância Magnética/métodos , Contração Miocárdica/fisiologia , Disfunção Ventricular Direita/diagnóstico , Displasia Arritmogênica Ventricular Direita/fisiopatologia , Síndrome de Brugada/fisiopatologia , Diagnóstico Diferencial , Feminino , Seguimentos , Ventrículos do Coração/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Miocárdio/patologia , Reprodutibilidade dos Testes , Estudos Retrospectivos , Disfunção Ventricular Direita/fisiopatologia
12.
Int Heart J ; 60(2): 470-473, 2019 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-30745545

RESUMO

A 41-year-old man developed cardiac arrest. A resting 12-lead electrocardiogram showed a delta wave, suggestive of preexcitation syndrome. An electrophysiological test revealed the existence of inducible atrial fibrillation and a fasciculoventricular accessory pathway (FVAP). After these examinations, idiopathic ventricular arrhythmia was suspected. For evaluating concealed Brugada syndrome, pilsicainide was administered, which diminished the delta wave and no Brugada-like electrocardiogram was observed. Ventricular double extra-stimulation from the RV apex easily induced VF, which could not be defibrillated by an external defibrillator, and later stopped spontaneously. These results established the diagnosis of FVAP and idiopathic VF, and not pre-excited atrial fibrillation or Brugada syndrome.


Assuntos
Feixe Acessório Atrioventricular , Síndrome de Brugada/diagnóstico , Cardioversão Elétrica/métodos , Eletrocardiografia/métodos , Síndromes de Pré-Excitação , Fibrilação Ventricular/terapia , Feixe Acessório Atrioventricular/diagnóstico , Feixe Acessório Atrioventricular/fisiopatologia , Feixe Acessório Atrioventricular/terapia , Adulto , Morte Súbita Cardíaca/etiologia , Morte Súbita Cardíaca/prevenção & controle , Desfibriladores , Diagnóstico Diferencial , Técnicas Eletrofisiológicas Cardíacas/métodos , Humanos , Masculino , Síndromes de Pré-Excitação/diagnóstico , Síndromes de Pré-Excitação/fisiopatologia , Síndromes de Pré-Excitação/terapia , Remissão Espontânea , Falha de Tratamento
13.
J Emerg Med ; 56(4): 444-447, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30755346

RESUMO

BACKGROUND: Brugada pattern on electrocardiography (ECG) can manifest as type 1 (coved pattern) and type 2 (saddleback pattern). Brugada syndrome represents an ECG with Brugada pattern in a patient with symptoms or clinical factors, including syncope, cardiac arrest, ventricular dysrhythmias, and family history. Brugada syndrome is caused by a genetic channelopathy, but the Brugada pattern may be drug-induced. Epinephrine-induced Brugada pattern has not been reported previously. CASE REPORT: A 63-year-old man developed anaphylaxis secondary to a bee sting, had a transient loss of consciousness, and self-administered intramuscular epinephrine. He subsequently presented to the emergency department and was found to have a type 1 Brugada pattern on ECG that resolved during observation. A historic ECG was reviewed that demonstrated a baseline type 2 Brugada pattern. His anaphylaxis was managed with steroids and antihistamines. He was observed without subsequent dysrhythmic events on telemetry or any further symptoms. WHY SHOULD AN EMERGENCY PHYSICIAN BE AWARE OF THIS?: The differential diagnosis for syncope includes dysrhythmia, such as Brugada syndrome. Among other possible drugs, epinephrine may induce a type 1 Brugada pattern. Patients with Brugada pattern on ECG should be referred immediately to electrophysiology for consideration of implantation of a cardioverter-defibrillator device, given the association of Brugada pattern with sudden cardiac arrest and ventricular dysrhythmias.


Assuntos
Anafilaxia/tratamento farmacológico , Síndrome de Brugada/diagnóstico , Epinefrina/efeitos adversos , Venenos de Abelha/efeitos adversos , Síndrome de Brugada/diagnóstico por imagem , Eletrocardiografia/métodos , Epinefrina/uso terapêutico , Humanos , Masculino , Pessoa de Meia-Idade
16.
Int J Cardiol ; 277: 130-135, 2019 Feb 15.
Artigo em Inglês | MEDLINE | ID: mdl-30195842

RESUMO

BACKGROUND: A spontaneous coved-type ST segment elevation in the electrocardiogram (ECG) has long been recognized as a risk stratification tool in patients with Brugada syndrome (BrS). This Type-I ST segment elevation is known to exhibit high dynamicity, fluctuating between coved-type and non-coved ST segment elevation. Our objectives in this study were to: 1) Compare ECG parameters in patients with spontaneous coved-type (Type-I) vs. non-coved-type ST segment ECGs; 2) Determine the variability of these ECG parameters with repeated measurements; and 3) Assess the predictive value of ECG parameters in these two groups during follow-up. METHODS: Forty-two consecutive patients with BrS and implanted ICD were studied between 2000 and 2017. Serial ECGs and clinical characteristics were obtained over a period of 199 months. RESULTS: QT-interval, QTc-interval, QRS duration, Tp-e interval and Tp-e dispersion were all significantly longer in spontaneous Type I vs. non-Type 1 ECGs and all ECG parameters displayed significant variability during serial recording obtained throughout the follow-up period. Patients with a spontaneous Type I ECG during the 114 ±â€¯56 months follow-up period were at a much higher risk for VT/VF than those without a Type I ECG (p = 0.016). Moreover, the risk for development of life-threatening ventricular arrhythmias was directly related to the fraction of ECGs displaying a spontaneous Type I pattern during follow-up. CONCLUSION: Our study illustrates the need for multiple ECGs to aid with both the diagnosis and prognosis of BrS. Serial ECGs can assist with risk stratification based on the fraction of ECGs that display a spontaneous Type-I BrS ECG.


Assuntos
Síndrome de Brugada/diagnóstico , Síndrome de Brugada/fisiopatologia , Eletrocardiografia/métodos , Ambulatório Hospitalar , Adulto , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Método Simples-Cego
17.
Am J Emerg Med ; 37(2): 376.e3-376.e7, 2019 02.
Artigo em Inglês | MEDLINE | ID: mdl-30415983

RESUMO

BACKGROUND: Brugada pattern is a well-known pathological finding on electrocardiogram (ECG) which increases the likelihood of cardiac arrest due to ventricular arrhythmia. These cases generally present in younger patients without evidence of an electrolyte abnormality, structural heart disease, or cardiac ischemia. In many instances, this pattern is either hidden on initial presentation or presents as an incidental finding on an EKG. Often times the Brugada syndrome leads to sudden cardiac death or more rarely can be unmasked with a class 1A or 1C anti-arrhythmic agent. Here, we present a distinctive case in which the pattern was exposed by amiodarone during the emergent treatment of Ventricular Tachycardia (VT). CASE REPORT: A 34-year-old female, without significant cardiac history, presented to the Emergency Department after multiple near syncopal episodes at home. Initial ECG showed VT vs. SVT. After a failed trial of adenosine, the patient was treated with 150 mg amiodarone and became hypotensive needing an electrical cardioversion. After becoming bradycardic, the amiodarone drip was discontinued and she was admitted to the MICU. An echocardiogram and left heart catheterization showed no evidence of coronary artery disease or decreased ejection fraction. The patient's ECG now showed a subtle Brugada Type 3 pattern and she received a dual chamber AICD upon discharge. CONCLUSION: This case emphasizes the awareness needed to seek out this pattern on subsequent ECG's. With the high lethality of Brugada, the emergency physician must recognize that multiple drugs can evoke this pattern after initial presentation.


Assuntos
Amiodarona/uso terapêutico , Antiarrítmicos/uso terapêutico , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/terapia , Desfibriladores Implantáveis , Taquicardia Ventricular/tratamento farmacológico , Adulto , Síndrome de Brugada/fisiopatologia , Eletrocardiografia , Serviço Hospitalar de Emergência , Feminino , Humanos , Taquicardia Ventricular/fisiopatologia
18.
J Cardiovasc Med (Hagerstown) ; 20(2): 59-65, 2019 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-30557210

RESUMO

BACKGROUND: The present study sought to evaluate the incidence of cerebrovascular events in a large cohort of patients with Brugada syndrome (BrS) analysing possible predictors, clinical characteristics and prognosis of cardioembolic events secondary to atrial fibrillation. METHODS: A total of 671 consecutive patients (age 42.1 ±â€Š17.0 years; men 63%) with a diagnosis of BrS were retrospectively analysed over a mean follow-up period of 10.8 ±â€Š5.5 years. The diagnosis of ischemic stroke was made according to the AHA/ASA guidelines using computed tomography (CT) and angio-CT in the emergency department. RESULTS: Among 671 patients with BrS, 79 (11.8%) had atrial fibrillation. The incidence of cardioembolic stroke in patients with BrS and atrial fibrillation was 13.9% (11 events). These patients had a low CHA2DS2Vasc score (82%, 0 and 1). Patients with transient ischemic attack/stroke were more frequently asymptomatic (91 vs. 25%; P < 0.0001) and older (59.4 ±â€Š11.2 vs. 43.9 ±â€Š16.7; P = 0.004) as compared with those without cerebrovascular events. CONCLUSION: The incidence of cardioembolic stroke in patients with BrS and atrial fibrillation was unexpectedly high. The cerebrovascular accidents were often the presenting clinical manifestation and were significantly associated with asymptomatic atrial fibrillation and older age. CHADS2 and CHA2DS2Vasc scores did not predict the unexpectedly high risk of thromboembolic events in this group of patients. The use of more invasive diagnostic tools might be useful in order to increase the rate of atrial fibrillation detection.


Assuntos
Fibrilação Atrial/epidemiologia , Isquemia Encefálica/epidemiologia , Síndrome de Brugada/epidemiologia , Ataque Isquêmico Transitório/epidemiologia , Acidente Vascular Cerebral/epidemiologia , Adulto , Fibrilação Atrial/diagnóstico , Bélgica/epidemiologia , Isquemia Encefálica/diagnóstico por imagem , Síndrome de Brugada/diagnóstico , Angiografia Cerebral/métodos , Angiografia por Tomografia Computadorizada , Eletrocardiografia , Técnicas Eletrofisiológicas Cardíacas , Feminino , Humanos , Incidência , Ataque Isquêmico Transitório/diagnóstico por imagem , Masculino , Pessoa de Meia-Idade , Sistema de Registros , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem
19.
J Cardiovasc Electrophysiol ; 30(1): 118-127, 2019 01.
Artigo em Inglês | MEDLINE | ID: mdl-30203441

RESUMO

BACKGROUND: A large number of SCN5A variants have been reported to underlie Brugada syndrome (BrS). However, the evidence supporting individual variants is highly heterogeneous. OBJECTIVE: We systematically re-evaluated all SCN5A variants reported in BrS using the 2015 American college of medical genetics and genomics and the association for molecular pathology (ACMG-AMP) guidelines. METHODS: A PubMed/Embase search was performed to identify all reported SCN5A variants in BrS. Standardized bioinformatic re-analysis (SIFT, PolyPhen, Mutation Taster, Mutation assessor, FATHMM, GERP, PhyloP, and SiPhy) and re-evaluation of frequency in the gnomAD database were performed. Fourteen ACMG-AMP rules were deemed applicable for SCN5A variant analysis. RESULTS: Four hundred and eighty unique SCN5A variants were identified, the majority of which 425 (88%) were coding variants. One hundred and fifty-six of 425 (37%) variants were classified as pathogenic/likely pathogenic. Two hundred and fifty-eight (60%) were classified as variants of uncertain significance, while a further 11 (3%) were classified as benign/likely benign. When considering the subset of variants that were considered "null" variants separately, 95% fulfilled criteria for pathogenicity/likely pathogenicity. In contrast, only 17% of missense variants fulfilled criteria for pathogenicity/likely pathogenicity. Importantly, however, only 25% of missense variants had available functional data, which was a major score driver for pathogenic classification. CONCLUSION: Based on contemporary ACMG-AMP guidelines, only a minority of SCN5A variants implicated in BrS fulfill the criteria for pathogenicity or likely pathogenicity.


Assuntos
Síndrome de Brugada/genética , Variação Genética , Canal de Sódio Disparado por Voltagem NAV1.5/genética , Potenciais de Ação , Síndrome de Brugada/diagnóstico , Síndrome de Brugada/metabolismo , Síndrome de Brugada/fisiopatologia , Predisposição Genética para Doença , Frequência Cardíaca , Humanos , Canal de Sódio Disparado por Voltagem NAV1.5/metabolismo , Fenótipo , Fatores de Risco
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