The unique ECG appearance of Brugada syndrome is caused by failure of the dome of the action potential to develop. It occurs when the outward currents (mainly Ito) overwhelm the inward currents (mainly Ica) at the end of phase 1 of the action potential. Because Ito becomes less prominent at ...

We report the case of a 49-year-old man in whom a diagnosis of Brugada syndrome was made after he presented to the emergency department for evaluation of a syncopal episode. The diagnosis was made by ECG changes, after the characteristic findings of peculiar downsloping ST-segment elevation in leads V(1) and ...

Long QT syndrome type 1 (LQT1) causes torsades de pointes arrhythmia, ventricular fibrillation, and sudden death. It usually is inherited as an autosomal dominant trait (Romano-Ward syndrome). The primary defect in LQT1 is a mutation in KVLQT1, a gene that encodes the pore-forming alpha-subunit of a K+ channel. KvLQT1 alpha-subunits ...

QT interval has been determined in 103 monozygotic (MZ) and 198 dizygotic (DZ) female twins. Mean values of corrected QT (QTc) were almost identical for both groups at 413 ms (MZ) and 412 ms (DZ). There was a significant age and environmental effect on QT interval. Heritability explained about 25% ...

To follow a candidate gene approach for the involvement of the KCND2 and KCND3 genes (Kv4.2 and Kv4.3) in the pathogenesis of the long QT syndrome (LQTS) and Brugada syndrome, it is necessary to determine the genomic organisation of KCND2 and KCND3. We therefore resolved the intron-exon boundaries and flanking ...

Kleine-Levin syndrome is characterized by periodic hypersomnia, hyperphagia, sexual disinhibitions and behavioral disturbances. The prognosis is generally benign, with normal cognitive and social functions after the episodes. We describe a typical case of Kleine-Levin syndrome associated with apparent academic decline, neuropsychological sequelae and personality alterations after the second episode of ...

The congenital long-QT syndrome (LQT3) and the Brugada syndrome are distinct, life-threatening rhythm disorders linked to autosomal dominant mutations in SCN5A, the gene encoding the human cardiac Na(+) channel. It is believed that these two syndromes result from opposite molecular effects: LQT3 mutations induce a gain of function, whereas Brugada ...

Superoxide anion plays important roles in vascular disease states. Increased superoxide production contributes to reduced nitric oxide (NO) bioactivity and endothelial dysfunction in experimental models of vascular disease. We measured superoxide production by NAD(P)H oxidase in human blood vessels and examined the relationships between NAD(P)H oxidase activity, NO-mediated endothelial function, ...

A 24-year-old woman with congenital long-QT syndrome (LQTS) required caesarean section at 32 weeks' gestation. Her risk of premature death from malignant ventricular tachyarrhythmias had necessitated implantation of an automatic cardioverter-defibrillator (AICD) with pacemaker capability. The patient expressed a preference for general anaesthesia. To minimise the risk of increased serum ...

Familial long QT syndrome (LQTS) and Brugada syndrome are two distinct human hereditary cardiac diseases known to cause ventricular tachyarrhythmias (torsade de pointes) and idiopathic ventricular fibrillation, respectively, which can both lead to sudden death. In this study we have identified and electrophysiologically characterized, in patients having either LQTS or ...

A 48-year-old woman with Romano-Ward syndrome (a hereditary long QT syndrome), asthma and an automatic implantable cardioverter defibrillator presented for laser surgery for debulking of a massive nasopharyngeal tumour prior to radiotherapy. Automatic implantable cardioverter defibrillators have only relatively recently been used to treat patients with the long QT syndrome ...

In five children from the same family who died after unexplained cardiac arrest, Brugada syndrome syndrome was suspected based on the transient manifestation of the typical electrocardiogram pattern in one of them. A mutation in the cardiac sodium-channel confirmed the diagnosis of Brugada syndrome, which suggests that this disease may ...

We describe a patient with Brugada syndrome in whom J point and ST-segment elevation in leads V1 and V2 were augmented by atrial pacing and intravenous administration of propranolol or cibenzoline. Significant T wave alternans with a 2:1 appearance of terminal negative T wave was observed in the absence and ...

The long QT syndrome is a congenital disease with frequent familial transmission, characterized primarily by prolongation of the QT interval and by the occurrence of life-threatening arrhythmias. The syndrome may be familial, with or without congenital deafness, or it may be idiopathic. We attempted to assess ventricular repolarization and to ...

Sudden unexplained death syndrome describes the death of apparently healthy individuals--usually young men--in whom postmortem examination does not reveal the cause of death. The victims are in apparently good health and usually die at night while sleeping. They die within minutes after the onset of agonal respiration. Patients who have ...

We describe a patient with Brugada syndrome. The ST-segment elevation in precordial leads was revealed during admission, but the appearance of J waves was characteristic before ventricular fibrillation (VF), rather than ST-segment elevation. J waves have been reported to be associated with the presence of an Ito-mediated prominent action potential ...

BACKGROUND: The syndrome with an electrocardiographic pattern of right bundle branch block, ST segment elevation in leads V(1)to V(3)and sudden death is genetically determined and caused by mutations in the cardiac sodium channel. The inheritance of the disease is autosomal dominant. Sudden death may, however, occur from a variety of ...

A 73-year-old man who had a family history of sudden death, experienced syncope. His electrocardiogram (ECG) presented right bundle branch block and right precordial ST segment elevation which are findings identical with those in Brugada syndrome. The cardiac MRI showed right ventricular mild dilatation, and endomyocardial biopsy revealed fatty replacement ...

In this review, the up-to-date understanding of the molecular basis of primary ventricular arrhythmias will be outlined. Two disorders have recently been well described at the molecular level, the long QT syndromes and Brugada syndrome, and in this paper we review the current scientific knowledge of each disease.

This article outlines the up-to-date understanding of the molecular basis of primary ventricular arrhythmias. Two disorders have recently been well described at the molecular level, the long QT syndromes and Brugada syndrome, and this article reviews the current scientific knowledge of each disease. A third disorder, arrhythmogenic right ventricular dysplasia, ...

Deafness is said to be the only extracardiac manifestation of long-QT syndrome. Whether long-QT syndrome manifests in the skeletal muscle as well, has not been investigated so far. Six affected members of two families with long-QT syndrome without deafness (Romano-Ward syndrome) underwent a clinical neurological examination, nerve conduction studies and ...

Recurrent syncope, malignant ventricular arrhythmias, and sudden death are complications of the long QT syndrome (LQTS). Two well-known syndromes with long QT intervals are known. The Jervell and Lange-Nielsen syndrome (JLNS) is characterized by prolongation of the QT interval, deafness, and autosomal-recessive inheritance, and the Romano-Ward syndrome is characterized by ...

A 23 year old woman with idiopathic long QT syndrome had repeated syncopal attacks associated with torsades de pointes. T wave alternans (TWA) was recorded and the QT interval was abnormally prolonged during treadmill exercise test. Monophasic action potential (MAP) alternans also appeared after an abrupt shortening of the cycle ...

We encountered a fetus who exhibited transient (at most 30 s), repeated episodes of tachyarrhythmia (240 bpm). This female neonate was born at 36 weeks of gestation and showed a markedly prolonged QT interval and transient, repeated episodes of polymorphic ventricular tachycardia. Congenital long QT syndrome was diagnosed. Retrospective analysis ...

The availability of low molecular weight heparin (LMWH), with associated ease of home delivery and enhanced efficacy and safety, has rendered the long-term outpatient use of LMWH feasible. Although warfarin is usually used for long-term secondary prevention, it is not the drug of choice for a variety of conditions such ...

This article reviews the clinical course of a 10-year-old child with a lifelong history of seizures and congenital deafness who presented after an episode of sudden cardiac arrest secondary to long-QT syndrome-induced torsade de pointes. Jervell-Lange-Nielsen syndrome is a rare cardioauditory syndrome in which affected subjects are susceptible to recurrent ...

AIMS: To construct detailed pedigrees of five New Zealand families with autosomal dominant long QT syndrome (LQTS) and screen selected individuals based on initial symptomatic and ECG data. METHODS: Clinical data were collected using a questionnaire and relevant medical record review. Participants were then classified according to ECG diagnostic criteria ...

Twelve ECG leads were monitored continuously during peripartum in a 23-year-old Japanese woman diagnosed as having the long Q-T (Romano-Ward) syndrome. Corrected Q-T (Q-Tc) intervals determined by 2 investigators blinded from the clinical informations disclosed that the Q-Tc interval increased during labor, suggesting that physical and/or emotional stress during labor ...

We describe a patient with the asymptomatic form of Brugada syndrome. His electrographical, electropharmacological, and electrophysiological characteristics were similar to those reported in patients with the symptomatic form of Brugada syndrome. We believe that he has the same arrhythmogenic substrate as that of patients with Brugada syndrome. The fact that ...

We describe the detection of congenital long QT syndrome in a fetus at 37 weeks' gestation using magnetocardiography (MCG). The prenatal diagnosis was confirmed by standard electrocardiography (ECG) performed after birth. This is the first case report of fetal long QT syndrome detected by MCG. Fetal MCG may be useful ...

Incidence of sudden death in Rett syndrome is greater than that of the general population and cardiac electrical instability is a prime suspect cause. Our study shows that girls with Rett syndrome had significantly lower heart rate variability (marker of autonomic disarray) and longer corrected QT intervals compared with an ...

Early repolarization, also known as benign early repolarization (BER) or normal variant, is noted in approximately 1% of the population and in up to 48% of patients seen in the Emergency Department with chest pain. BER represents a benign variant of the normal electrocardiogram and is one of several syndromes ...

Rett syndrome is a severe neurodevelopmental disorder of unknown aetiology. A prolonged QT interval has been described previously in patients with Rett syndrome. To investigate QT prolongation and the presence of cardiac tachyarrhythmias in Rett syndrome electrocardiography and 24 hour Holter monitoring were performed prospectively in a cohort of 34 ...

Brugada syndrome is characterized by ST segment elevation in the right precordial leads, V1-V3 (unrelated to ischemia or structural disease), normal QT intervals, apparent right bundle branch block, and sudden cardiac death, particularly in men of Asian origin. An autosomal dominant mode of inheritance with variable expression has been described. ...

We describe the case of a 44-year-old man, with a history of recurrent syncopal episodes and effort angina, the latter attributed to cardiac syndrome-X, who was admitted to our department because of a syncopal episode. During his hospitalization laboratory investigations including haematologic and blood chemical findings, head C/T scan, electroencephalogram, ...

A patient with marked first-degree AV block and a DDDR pacemaker presented with a history of paroxysmal narrow QRS tachycardia, subsequently identified as sinus tachycardia (with a very long PR interval), causing a clinical problem similar to pacemaker syndrome because of loss of AV synchrony. The latter resulted from an ...

About 10-20% of patients dying suddenly and unexpectedly do not have structural heart disease. The major causes of sudden death in this population are acute ischemia, the syndrome of right bundle branch block, and ST-elevation from V1 to V3, the long QT-syndrome, and the Wolff-Parkinson-While syndrome. In some patients, none ...

The Night Eating Syndrome (NES) is usually interpreted in organicistic and physiological terms. This paper looks at it dynamically in terms of the psychic dimension of the patient through an examination of the contrasting tensions (emptiness and fullness; saving and destroying the object, etc.) that are the unconscious cause of ...

Fetuses with homozygous alpha-thalassaemia develop Hb Bart's hydrops fetalis syndrome, which usually leads either to abortion or fetal/neonatal death. We report diagnosis, intrauterine transfusion therapy, neonatal intensive care management and long-term follow-up of a Vietnamese infant who survived Hb Bart's hydrops fetalis syndrome. During the first 2 years the child ...

We describe a man with lateral medullary syndrome associated with a long-standing clumsiness of the ipsilateral upper limb. MRI showed that the clinical finding of ipsilateral clumsiness correlated with an extension of the infarction into the dorsal column nuclei but was not reflected in any involvement of the more ventral ...

This review deals with the clinical, basic and genetic aspects of a recently highlighted form of idiopathic ventricular fibrillation known as the Brugada syndrome. Our primary objective in this review is to identify the full scope of the syndrome and attempt to correlate the electrocardiographic manifestations of the Brugada syndrome ...

The Jervell and Lange-Nielsen syndrome is an autosomal recessive trait characterized by deafness and electrocardiographic changes. These changes include prolongation of the QT interval and T-wave inversion. Treatment may include the use of beta-blockers to prevent the development of malignant ventricular arrhythmias and sudden death. We report a patient with ...

Early repolarization, also known as benign early repolarization (BER) or normal variant, is noted in approximately 1% of the population and in up to 48% of patients seen in the emergency department with chest pain. BER represents a benign variant of the normal electrocardiogram and is one of several syndromes ...

Children with the long QT syndrome (LQTS) are prone to life threatening ventricular arrhythmias. These arrhythmias may result in syncope and seizures that are often attributed incorrectly to a seizure disorder or to common fainting. The untreated mortality for symptomatic children with the LQTS is high but is improved significantly ...

Long QT syndrome (LQT) is a cardiac disorder that causes sudden death from ventricular tachyarrhythmias, specifically torsade de pointes. Two types of LQT have been reported, autosomal-dominant LQT (Romano-Ward syndrome) and autosomal-recessive LQT (Jervell and Lange-Nielsen syndrome); Jervell and Lange-Nielsen syndrome is also associated with deafness. Four LQT genes have ...

The LQTS is no longer the rare "zebra" whose purpose is to ensure that trainees recall that deafness and sudden cardiac death may be related (Jervell and Lange-Nielsen syndrome). Over the past 10 to 20 years, the number of cases of inherited LQTS (Romano-Ward syndrome) has increased dramatically. It is ...

Torsade de pointes is a polymorphic ventricular tachyarrhythmia associated with a long QT interval. The prognosis is excellent if torsade is recognized early. In the acquired long QT syndrome, measures should be taken quickly to identify and correct all predisposing conditions and to treat or prevent torsade. Established treatments of ...

We present a patient with Brugada syndrome in whom 12-lead ECGs were recorded just before and after an episode of ventricular fibrillation (VF). A progressive elevation of both the RS-T segment and J waves just preceding and following the VF, and a close relationship between the amplitude of the RS-T ...

Torsade de pointes in the congenital long QT syndrome (LQTS) is often pause dependent. Thus, the main goal of pacemaker treatment in the LQTS may be the prevention of pauses that facilitate the onset of torsade de pointes. A pause prevention pacing algorithm (rate smoothing) was used for arrhythmia prevention ...

A 42-year-old man was hospitalized for investigation of repeated episodes of ventricular fibrillation (Vf). Electrocardiogram (ECG) showed typical features of Brugada syndrome. Echocardiography, coronary angiography and endomyocardial biopsy specimen were normal. 123I-MIBG scintigraphy showed homogeneous reduction of uptake. The patient demonstrated 17 episodes of Vf in 1 day, but these ...