疑似Brugada综合征的心电图二例

病例 1,患者男性 ,6 4岁。 1972年偶然机会描记心电图 ,发现Ｖ1、Ｖ2 导联ＱＲＳ波呈ｒｓＲ′型伴Ｔ波倒置 ,ＱＲＳ时限 <0 12ｓ,当时诊断为不全性右束支阻滞 ;1985年自觉有时胸闷 ,再次描记心电图 ,与 1972年相比无变化 ,但诊断改为右心室早期复极综合征 (图 1) ,对这种少见的心电图还进图 1　Ｖ1 、Ｖ2 ＱＲＳ呈ｒｓＲ′型、ＳＴ段下斜型抬高 ,Ｔ波倒置行了个案报道。 1995年再次复查心电图 ,心电图完全恢复正常。病例 2 ,患者男性 ,32岁。平素身体健康 ,因腹痛就诊 ,临床诊断慢性胆囊炎。心电图常规检查示Ｖ1导联ＱＲＳ波呈ｒＳＲ′型 ,…     

First cardiac manifestation of hypotonia-cystinuria syndrome

Metabolic Brain Disease - Hypotonia-cystinuria syndrome is a very rare autosomal recessive contiguous gene deletion syndrome of PREPL and SLC3A1 at 2p21 with neuromuscular and neuroendocrinologic...     

国人Brugada综合征临床特征的Meta分析

目的了解国人Brugada综合征的主要临床特征。方法对1998～2002年国内期刊报道的26例Brugada综合征的临床和心电图资料的临床特征作Meta分析。结果患者主要见于青壮年男性,猝死发生时记录到可救治的心室颤动和多形性室性心动过速;心电图呈类右束支传导阻滞型,V1、V2导联以ST段下斜型抬高、T波倒置为主,有家族史者在心律失常发生前出现先兆者明显低于无家族史者(30%比62.5%,P<0.05)。结论国人Brugada综合征以青壮年男性为主,心电图表现与文献资料相似。有家族史者比无家族史者病情凶险。     

Brugada syndrome

The Brugada syndrome is a clinical-electrocardiographic diagnosis characterized by syncopal episodes or sudden death (caused by ventricular tachycardia and ventricular fibrillation) in patients with a structurally normal heart with a characteristic electrocardiographic pattern consisting of ST segment elevation in precordial leads (Vl-V3) and a morphology of the QRS complex resembling right bundle branch block (the latter can transiently disappear). Timely diagnosis and adequate treatment may essentially decrease mortality of this disease. In our review we have summarized results of recent studies of etiology, pathogenesis, clinical picture, diagnosis and treatment of the Brugada syndrome.     

Brugada syndrome

The Brugada syndrome is an autosomal dominant disease with incomplete penetrance that may cause syncope and sudden cardiac death in young individuals with a normal heart. It is characterized by an electrocardiographic pattern of complete or incomplete right bundle branch block and ST segment elevation in leads V1-V3. One of the genes linked to this syndrome is SCN5A, the gene encoding for the cardiac sodium channel. Mutations in SCN5A cause a functional reduction in the availability of cardiac sodium current in Brugada syndrome. However, only 20-25% of patients affected by this syndrome have mutations on this gene. A novel gene locus on chromosome 3, distinct from SCN5A, has been identified recently. The relative male preponderance of the phenotype, despite equal inheritance of the gene in males and females, has led to the speculation of a role for testosterone in the phenotype. The disease could manifest at first time as cardiac arrest without any previous symptom, and the electrocardiographic pattern could be intermittent, requiring a pharmacological challenge with Class I antiarrhythmic drugs to unmask ST elevation. Several conditions producing Brugada-like electrocardiographic patterns should be borne in mind and excluded while making a diagnosis of the Brugada syndrome. The management is difficult as pharmacological agents are not universally effective. The mode of treatment recommended by the majority of cardiac electrophysiologists is the implantation of a cardioverter defibrillator. Symptomatic patients with inducible ventricular arrhythmias and a positive family history should be considered for prophylactic implantation of a cardioverter defibrillator.     

Brugada syndrome

Brugada syndrome (BrS) is, along with the long QT syndrome, one of the most frequently diagnosed inherited arrhythmogenic syndromes. It is a primary electric heart disease manifested by ST segment elevations in the right precordial leads. BrS is responsible for more than 4% of all sudden deaths and at least 20% of sudden deaths in patients with structurally normal hearts. In 1998, the first mutations in the gene coding the structure of the cardiac sodium channel were identified in patients with BrS. Nowadays, several hundreds of mutations in at least 8 genes have been already associated with BrS. Functional consequences of many of these mutations on the molecular level have been revealed and, in some of them, even the consequences for the overall cardiac electrophysiology were suggested thank to the mathematical modelling. However, despite intense study of many scientific teams and formulation of several hypotheses, arrhythmogenic mechanisms in BrS have not been fully elucidated yet. This review provides a contemporary view of clinical symptoms, pathophysiology, diagnostics and therapy in BrS.     

Brugada syndrome

Two siblings with features of Brugada syndrome are reported. One of them had permanent pacemaker implantation elsewhere where he was evaluated for recurrent syncope and diagnosed to have tri-fascicular block. He continued to have syncopal episodes and subsequently detected to have runs of polymorphic ventricular tachycardia picked up on a routine ECG. His sibling also was found to have features of Brugada syndrome.     

The Brugada syndrome

The Brugada syndrome is a hereditary disease causing sudden cardiac death in apparently healthy individuals with a structurally normal heart. The disease is caused by mutations in the cardiac sodium channel gene SCN5A. Patients with this disease have a peculiar electrocardiogram with elevation of the ST segment in leads V1 to V3, an electrocardiogram that every doctor should recognize. There exist variants of the electrocardiogram with minimal ST segment elevation and even concealed forms that can only be unmasked by the administration of class I antiarrhythmic drugs. When left untreated or when treated with all known antiarrhythmic drugs, patients with Brugada syndrome have a high mortality (approximately 10% per year). The only effective treatment to prevent sudden death is the implantable defibrillator.     

The Brugada syndrome

On the case of a patient who had medical care on account of a febrile disease diagnosed as pleuritis the authors draw attention to a relatively new pathological unit described as the "Brugada syndrome". It is a genetically conditioned anomaly of sodium channels, which, when fully expressed, is manifested by a picture resembling right bundle branch block, elevation of ST segment in leads V1-V3 and the occurrence of malignant ventricular arrhythmias or sudden death without structural heart disease. Neither the reported patient nor his family suffered from arrhythmias. The authors present however a typical electrocardiographic picture ad positive test with ajmaline, a substance which by blocking sodium channels can frequently induce latent and variable changes.