Kearns-Sayre syndrome has associated cardiac findings, predominantly complete heart block, which has been implicated as a mechanism of sudden death in these individuals. A patient with Kearns-Sayre syndrome who had syncope and multiple cardiac arrests due to ventricular tachycardia in the setting of QT prolongation is described. Long QT syndrome ...

OBJECTIVE: Loss of Na(+) channel function has been implicated in idiopathic ventricular fibrillation (IVF) and Brugada syndrome. We have studied the biophysical properties of an IVF mutation (S1710L) that exhibited an unusual clinical phenotype: rate-dependent bundle branch block without manifestation of Brugada-type ECG pattern. METHODS: The mutant S1710L channels were ...

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

The long QT syndrome is characterized by prolongation of the corrected QT (QTc) interval on the surface electrocardiogram. It is associated with precipitation of a polymorphic ventricular tachycardia, torsade de pointes, which may cause sudden death. The syndrome is a disorder of cardiac repolarization caused by the alterations in the ...

A 7-year-old girl presented with classic signs of typical Marshall-Smith syndrome, a rare early overgrowth syndrome. Her long-term survival, which is extremely uncommon in such patients, can be attributed to the successful securing and maintenance of an airway. Continued follow-up is extremely important in finding out how to ensure long-term ...

Recent studies of the molecular basis of the long QT syndrome (LQTS) have advanced our understanding of the mechanisms responsible for the abnormal prolongation of ventricular repolarization and revealed associations between LQTS and other primary electrical diseases of the heart such as Brugada syndrome. The role of DNA single nucleotide ...

AIMS: Sudden unexplained death syndrome occurs in previously healthy South-east Asian young adults without any structural cause of death. The common electrocardiographic (ECG) change in sudden unexplained death syndrome survivors is right bundle branch block and ST elevations in leads V(1) to V(3), which are similar to the ECG pattern ...

BACKGROUND: Sudden unexplained death syndrome (SUDS) is a sudden death syndrome in previously healthy Southeast Asian young adults without any structural causes of death. Many SUDS survivors show electrocardiographic (ECG) evidence of RSR' and ST elevation in leads V1 to V3, which is similar to the ECG pattern in Brugada ...

The net effects of sympathetic and vagal activity on the QT interval and the mode of spontaneous onset of torsade de pointes (TdP) are still unclear in long-QT syndrome. Two patients with long-QT syndrome had syncope while undergoing Holter ECG investigation. The spontaneous onset of TdP in these patients was ...

We report a case of 2:1 atrioventricular block associated with acquired long QT syndrome. A newborn presented to our neonatal intensive care unit with intermittent bradycardia due to 2:1 atrioventricular block. Initial evaluation showed QT prolongation and significant electrolytic abnormalities. After correction of the electrolytic imbalance, the QT interval normalized ...

Paroxysmal tonic upgaze (PTU) is a syndrome of childhood manifesting as sudden ocular movements with sustained upward deviation of the eyes. We describe the outcome of 6 patients, after a follow-up of 10 years, with onset of the disease in childhood. The aims of this study were to clarify some ...

Long term follow up of a patient with idiopathic long QT syndrome is described. A 5 year old girl was admitted with attacks of unconsciousness. Epilepsy was diagnosed and the patient was treated with anticonvulsants. During other episodes, ECG study showed torsades de pointes. The patient was treated with beta ...

Although sudden infant death syndrome (SIDS) has been associated with long QT syndrome-a genetic disorder that causes arrhythmia-a causal link has not been shown. We screened genomic DNA from a child who died of SIDS and identified a de-novo mutation in KVLQT1, the gene most frequently associated with long QT ...

Typical ECG of that described for Brugada syndrome was elicited in a patient diagnosed with labyrinthopathy during infusion of dimenhydrinate, a first-generation antihistamine usually used to treat motion sickness. Although the patient had no history of syncope or palpitations, and there was no family history of cardiac disease or sudden ...

A 21-day-old infant with hemangioma was brought to the hospital with enlargement of the hemangioma of the left thigh and purple discoloration around umbilicus. This led to the diagnosis of Kasabach-Merrill syndrome. Initial treatment with corticosteroid failed. The patient underwent radiotherapy that led successfully to improvement of both hemangioma and ...

Mutations in the cardiac sodium (Na) channel gene (SCN5A) give rise to the congenital long-QT syndrome (LQT3) and the Brugada syndrome. Na channel blockade by antiarrhythmic drugs improves the QT interval prolongation in LQT3 but worsens the Brugada syndrome ST-segment elevation. Although Na channel blockade has been proposed as a ...

OBJECTIVE: Recent evidence in literature shows that the long QT syndrome accounts for a fraction of the sudden infant death syndrome. Newborn infants with prolongation of the Q-T interval often show sinus bradycardia, which led us to test whether children who were diagnosed with long QT syndrome also show sinus ...

The Brugada syndrome was first described in 1992. Palpitations and/or syncope are usually experienced during rest and increased vagal activity. [table: see text] However, in 15% of patients with Brugada syndrome, symptoms occur during physical activity. The syndrome is further characterized by a pattern of RBBB and ST-segment elevation in ...

The long QT syndrome should be considered when evaluating patients with syncope. Prolongation of the QT interval and abnormalities of T wave morphology due to abnormal ventricular repolarization characterize the syndrome. In the past decade, molecular genetics has revealed that abnormal repolarization is the result of gene mutations encoding integral ...

Both the congenital and acquired long QT syndrome are due to abnormalities (intrinsic and/or acquired) of the ionic currents underlying repolarization. The prolongation of repolarization acts as a priming step for the generation of early afterdepolarizations. In the long QT syndrome, it also is associated with increased dispersion of repolarization. ...

Intravenous administration of isoproterenol restored the ST-segment configuration to nearly normal in the right precordial leads and completely prevented spontaneous VF attacks in a patient with Brugada syndrome. The formation of a Brugada-type ECG has been attributed to the transmural dispersion of repolarization of the right ventricular epicardium and related ...

Orthostatic intolerance is occasionally reported by patients with syringomyelia and is usually attributed to vestibular symptoms or neurogenic orthostatic hypotension. Postural tachycardia syndrome has not been previously described in syringomyelia. A patient with long-standing syringomyelia and a Chiari type I anomaly developed disabling "panic-like" attacks associated to orthostatic intolerance five ...

The cardiac delayed rectifier potassium current mediates repolarization of the action potential and underlies the QT interval of the ECG. Mutations in either of the two molecular components of the rapid delayed rectifier (I(K,r)), HERG and KCNE2, have been linked to heritable or acquired long-QT syndrome. Mechanisms whereby mutations of ...

We report the case of a 28-year-old man with no structural heart disease, who exhibited clearly augmented ST segment elevation in the right precordial leads, followed by induction of spontaneous right ventricular outflow tract tachycardia with intravenous administration of Class IA antiarrhythmic drugs. The electrophysiologic mechanism of this tachycardia was ...

Torsades de pointes is a ventricular tachycardia characterized by the QRS complexes of changing amplitude that appear to twist around an isoelectric line. It usually precipitates in the setting of underlying Q-T interval prolongation, which has both congenital and acquired causes. The common acquired causes of torsades precipitation are medications, ...

The Q-T interval by electrocardiogram may be prolonged as a congenital or acquired condition. The congenital form, long QT syndrome (LQTS) is an electrical disorder associated with a high mortality rate. However, in newborns, electrolyte abnormalities are one of the most common causes of a long Q-T interval. We describe ...

Carcinoid syndrome is a relatively rare disease, generally associated with poor prognosis. Conventional diagnostic and therapeutic methods often prove inadequate and ineffective. New therapeutic options have recently been provided by Radiolabeled long-acting somatostatin analogs (Octreotide), alpha interferon, 131 MIBG and non-pharmacological methods--embolization of the hepatic artery, gene therapy, and combined ...

Percutaneous endoscopic gastrostomy has gained wide acceptance as a relatively safe and efficient means of long-term enteral nutrition support. We describe an elderly patient in whom the internal bumper eroded into the gastric wall and was completely covered by gastric mucosa about 2 months after gastrostomy tube placement. The end ...

Incidence of sudden death in Rett syndrome is greater than that of the general population, and cardiac electrical instability is a prime suspect cause. The objective of the present study was the evaluation of heart rate variability, a marker of autonomic activity, in females affected by classic Rett syndrome and ...

Congenital long QT syndromes (LQTS) and Brugada syndrome are hereditary disorders of cardiac ion channels which result in life-threatening cardiac arrhythmias or sudden cardiac death in patients with anatomically normal hearts. The pathogenesis of these dramatic events has been partially elucidated with the identification of the individual ion channels involved ...

Polymorphic ventricular tachycardia (PVT) is a form of ventricular tachycardia characterized by QRS complexes that seem to change direction during the tachycardia. If associated with a prolonged QT interval, it is called torsades de pointes. In the absence of a congenital long QT syndrome, torsades is seen with certain drugs ...

The prolonged QT syndromes are characterized by prolongation of the QT interval corrected for heart rate (QTc) on the surface electrocardiogram associated with T-wave abnormalities, relative bradycardia, and ventricular tachyarrhythmias, including polymorphic ventricular tachycardia and torsades de pointes. These patients tend to present with episodes of syncope, seizures, or sudden ...

AIMS: To re-examine the prevalence and presentation of early repolarization in athletes and to compare it with electrocardiographic abnormalities observed in patients with the Brugada syndrome. METHODS: Electrocardiograms of 155 male athletes and 50 sedentary controls were studied. Early repolarization was considered present if at least two adjacent precordial leads ...

ECGs and cardiac rhythms of normal athletes can vary widely. The heightened vagal tone from athletic conditioning can result in variant ECG findings that may mimic serious disorders. ECG patterns of long-QT syndrome, arrhythmogenic right ventricular dysplasia, Wolff-Parkinson-White syndrome, and hypertrophic cardiomyopathy signal the need for further evaluation, therapy, and ...

A one-year-old child with a structurally normal heart presented with monomorphic ventricular tachycardia. Electrocardiogram in sinus rhythm showed right bundle branch block with ST segment elevation suggesting a diagnosis of Brugada syndrome. At a later date, when the ST segment was isoelectric. intravenous procainamide caused ST elevation typical of Brugada ...

Catecholamines have long been used as a provocative test in some forms of tachyarrhythmias including long QT syndrome (LQTS). In contrast, catecholamines are reported to decrease ST-segment elevation in leads V1-V3 in some patients with Brugada syndrome. Differential effects of catecholamines on QT interval, action potential duration, transmural dispersion of ...

A short review of the Ganser syndrome is given. The condition is a rare, probably dissociative, disorder with transient Vorbeireden as the central symptom. The case of a middle-aged man developing a transient Ganser syndrome after long-term solitary confinement in a remand prison is presented. Systematic investigation of 268 remand ...

We report a 68-year-old man who developed torsades de pointes ventricular tachycardia induced by combined use of mosapride and flecainide. He had a permanent pacemaker (DDD mode) implanted because of sick sinus syndrome (bradytachy syndrome) 6 years earlier. The patient had started taking mosapride for upper abdominal discomfort 2 weeks ...

Long QT and Brugada syndromes are two hereditary cardiac diseases. Brugada syndrome has so far been associated with only one gene, SCN5A, which encodes the cardiac sodium channel. However, in long QT syndrome (LQTS) at least six genes, including the SCN5A, are implicated. The substitution (D1790G) causes LQTS and the ...

Jervell and Lange-Nielsen syndrome represents a rare, autosomal recessive cause of congenital deafness. Affected patients have a characteristic prolongation of the QT interval on electrocardiogram, along with cardiac arrhythmias, recurrent syncopal episodes, and a predisposition to sudden death. We present the first reported case of cochlear implantation in a child ...

OBJECTIVE: Premature ectopic beats may create a specific sequence of events (e.g. short-long-short) preceding Torsade de Pointes arrhythmias (TdP) in the long QT syndrome. The relevance of this sequence for the initiation of TdP is not clear. In our dog model of TdP, interventricular dispersion (DeltaAPD=left-right ventricular monophasic action potential ...

Brugada syndrome (an electrocardiographic pattern of right bundle branch block, ST segment elevation in leads V1 to V3, and sudden death) is genetically determined and caused by mutations in the cardiac ion channels. The mode of inheritance of the disease is autosomal dominant in half of familial forms. Sudden death ...

The ultrasonographic imaging of a fetus affected by 3-M syndrome is described. This is a primordial dwarfism with low birthweight, short stature, facial dysmorphism and normal mental development. The biparietal diameter and head circumference were in accordance with the gestational age at 18 weeks. The femur and tibia lengths were ...

OBJECTIVES: We sought to demonstrate the mode of spontaneous onset of ventricular fibrillation (VF) in patients with Brugada syndrome. BACKGROUND: The electrophysiologic mechanisms of VF in Brugada syndrome have not been fully investigated. METHODS: Nineteen patients (all male, mean age 47 +/- 12 years) with Brugada syndrome were treated with ...

About 10-20% of patients dying suddenly or resuscitated from ventricular fibrillation do not have demonstrable heart disease. These people are often young and tragically in some cases sudden death is the first and only clinical event. One of the three main electrophysiological diagnoses to be considered in these situations is ...

Early repolarization syndrome (ERS) has traditionally been regarded as benign. In the electrocardiogram (ECG), it is characterized by a diffuse upward ST-segment concavity ending in a positive T wave in leads V2-V4 (5). Clinical interest in this ECG phenomenon has recently been rekindled because of similarities with the electrocardiographic manifestations ...

We present a patient with a complete Coffin-Lowry syndrome, associated with drop episodes precipitated by sudden auditory stimuli, which provoked in turn, a definite loss of muscle tone in both legs. Electrophysiological studies showed that these episodes are an unusual type of startle response and that they may be associated ...

PURPOSE: The hematuria-dysuria syndrome is the most common reported complication of gastrocystoplasty. We reviewed our cases of gastrocystoplasty to determine the long-term incidence and significance of the syndrome. MATERIALS AND METHODS: We performed a retrospective study of 78 patients who underwent gastrocystoplasty at our institution between July 1989 and October ...

Mutations in the human cardiac Na+ channel alpha subunit gene (SCN5A) are responsible for Brugada syndrome, an idiopathic ventricular fibrillation (IVF) subgroup characterized by right bundle branch block and ST elevation on an electrocardiogram (ECG). However, the molecular basis of IVF in subgroups lacking these ECG findings has not been ...

Right bundle branch block with coved ST-segment elevation in leads V1 through V3 is the electrocardiographic (ECG) marker of the Brugada syndrome. We describe a healthy young man with a normal baseline ECG in whom a transient Brugada pattern was observed repeatedly after recreational cocaine use. Intravenous administration of procainamide ...