Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0018799 (heart disease)
 34,133 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

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 thought to be triggered activity due to delayed afterdepolarizations. Due to the existence of substrates that were similar to Brugada syndrome combined with right ventricular outflow tract tachycardia, this case may represent a subtype of Brugada syndrome.
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PMID:Spontaneous right ventricular outflow tract tachycardia in a patient with Brugada syndrome. 1146 40

Ventricular arrhythmia has for decades been considered as a premonitory sign and risk marker of sudden death. Novel theories about arrhythmogenesis and conditions for the occurrence of sudden death, as well as evidence about proarrhythmic effect of antiarrhythmic drugs, have changed the views on the treatment of ventricular arrhythmia. Ventricular tachycardia (VT) is most often associated with structural heart disease: ischemic heart disease and previous myocardial infarction, cardiomyopathy (dilated and hypertrophic), arrhythmogenic right ventricular dysplasia, valvular heart disease (mitral valve prolapse), heart failure, condition after surgical correction of a congenital heart disease. Sometimes VT occurs without structural heart disease (congenital LQTS, Brugada syndrome, idiopathic VT). Today's standpoint is to treat only symptomatic and/or prognostically significant arrhythmias. Prognostic significance of VT mostly depends on the type and degree of structural heart disease and on global cardiac function. In patients with asymptomatic non-sustained VT and low risk for sudden death no treatment is needed or antiarrhythmics are administered. Conversely, in high risk patients implantation of automatic cardioverter-defibrillator is indicated. In the treatment of acute attack of VT the following can be used: electroconversion, cardiac pacing (overdrive), lidocaine, amiodarone, beta-blockers, and occasionally magnesium or verapamil. In the prevention of recurrent arrhythmia and sudden death we can use: amiodarone, sotalol, mexiletin, phenytoin, beta-blockers, radiofrequency ablation, implantable cardioverter-defibrillator, and in specific patients verapamil, pacemaker or left ganglion stellatum denervation.
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PMID:[Current management of patients with ventricular tachycardia]. 1172 15

Brugada syndrome is an inherited cardiac disorder caused by mutations in the cardiac sodium channel gene, SCN5A, that leads to ventricular fibrillation and sudden death. This study reports the changes in functional expression and cellular localization of an SCN5A double mutant (R1232W/T1620M) recently discovered in patients with Brugada syndrome. Mutant and wild-type (WT) human heart sodium channels (hNa(v)1.5) were expressed in tsA201 cells in the presence of the beta(1)-auxiliary subunit. Patch-clamp experiments in whole-cell configuration were conducted to assess functional expression. Immunohistochemistry and confocal microscopy were used to determine the spatial distribution of either WT or mutant cardiac sodium channels. The results show an abolition of functional sodium channel expression of the hNa(v)1.5/R1232W/T1620M mutant in the tsA201 cells. A conservative positively charged mutant, hNa(v)1.5/R1232K/T1620M, produced functional channels. Immunofluorescent staining showed that the FLAG-tagged hNa(v)1.5/WT transfected into tsA201 cells was localized on the cell surface, whereas the FLAG-tagged hNa(v)1.5/R1232W/T1620M mutant was colocalized with calnexin within the endoplasmic reticulum (ER). These results indicate that a positively charged arginine or lysine residue at position 1232 in the double mutant is required for the proper transport and functional expression of the hNa(v)1.5 protein. These results support the concept that loss of function of the cardiac Na(+) channel is responsible for the Brugada syndrome. The full text of this article is available at http://www.circresaha.org.
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PMID:Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome. 1178 29

The Brugada syndrome describes a subgroup of patients at risk for the occurrence of ventricular fibrillation who have no definable structural heart disease associated with a right bundle branch block conduction pattern and ST-segment elevation in the right precordial leads. This syndrome is caused by genetic defects in the alpha subunit of the sodium channel. This defect causes a reduction in the sodium channel current, which accentuates the epicardial action potential notch leading to ST-segment elevation. Sodium channel blockers can potentiate these findings and screen for patients with intermittent baseline electrocardiographic findings. Because of the poor prognosis of such patients, symptomatic patients should be treated with an implantable cardioverter-defibrillator.
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PMID:The Brugada syndrome. 1179 Sep 29

The Brugada syndrome is an arrhythmic syndrome characterized by a right bundle branch block pattern and an segment elevation in the right precordial leads of the electrocardiogram, in conjunction with a high incidence of sudden death secondary to ventricular tachyarrhythmias. No evidence of structural heart disease is noted during diagnostic evaluation of these patients. The prognosis is poor with up to a 10 per year mortality. Antiarrhythmic drugs have no benefit in prolonging survival. The treatment of choice is the insertion of an implantable cardioverter defibrillator.
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PMID:[Brugada's syndrome]. 1200 77

A 22-year-old Japanese man with Brugada syndrome was resuscitated from cardiopulmonary arrest. In addition to the electrocardiographic evidence of the syndrome and the absence of apparent structural heart disease, no accumulation of iodine-123-metaiodobenzylguanidine (MIBG) was found anywhere throughout the heart. Thallium-201 (Tl) single photon emission computed tomography (SPECT) distribution showed no significant decrease in its uptake. To our knowledge, this is the first report that has demonstrated a homogeneous absence of cardiac accumulation of MIBG in Brugada syndrome.
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PMID:Iodine-123-metaiodobenzylguanidine scintigraphy of total cardiac adrenergic denervation in Brugada syndrome. 1202 5

A patient who presented with a new apparent seizure was found to have abnormal electrocardiographic findings, with classic features of the Brugada syndrome. He had spontaneous episodes of nonsustained ventricular tachycardia, easily inducible ventricular fibrillation at electrophysiological study in the absence of structural heart disease, and a negative neurological evaluation. These findings suggested that sustained ventricular arrhythmias known to be associated with the Brugada syndrome and resultant cerebral hypoperfusion, rather than a primary seizure disorder, were responsible for the event. Patients with the Brugada syndrome often present with sudden death or with syncope resulting from ventricular arrhythmias. In consideration of its variability in presentation sometimes mimicking other disorders, primary care physicians and internists should be aware of its often transient electrocardiographic features.
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PMID:Brugada syndrome: an unusual cause of convulsive syncope. 1207 42

We report a 37-year-old man with documented aborted sudden death. After resuscitation, the patient showed no structural heart disease but the ECG showed a right bundle-branch block with a descending ST segment elevation in leads V(1) and V(2). After transient normalization of the ECG, the administration of ajmaline led to spontaneous development of the distinct descending ST segment elevation in the right precordial leads and therefore to the diagnosis of Brugada syndrome. The incidence of sudden cardiac death among these patients is high. The only treatment is an implantable cardioverter-defibrillator (ICD). The Brugada syndrome should therefore be borne in mind in the differential diagnosis of sudden death.
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PMID:Aborted sudden death in a patient with a structurally normal heart: the Brugada syndrome. 1210 87

We report about a 20-year old patient suffering cardiopulmonary resuscitation due to ventricular fibrillation. We diagnosed Brugada syndrome after exclusion structural heart disease and a positive Ajmalin test and implanted an ICD. In that there is a 20-30% familiar disposition, it was necessary that all family members undergo a cardiac examination. It was found that one brother and one sister presented the beginning of a right ventricular dilatation and a fibrolipomatous area in the anterior wall segment of the right ventricle. This result is compatible with a "concealed" arrhythmogenic right ventricular dysplasia (ARVD). As a prognostic indication we decided to implant an ICD prophylactically. The case report demonstrates the value of familiar examination of patients with an unclear ventricular arrhythmogenic event.
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PMID:[Brugada syndrome or ARVD (arrhythmogenic right ventricular dysplasia) or both? Significance and value of right precordial ECG changes]. 1213 89

Right bundle branch block and ST segment elevation (RBBB-STE) in the right precordial leads have been reported as a distinct clinical and electrocardiographic syndrome in patients prone to ventricular fibrillation (VF) in the absence of structural heart disease (Brugada syndrome). The purpose of the study was to investigate the role of signal averaged electrocardiogram (SAECG) in identifying patients at high risk among asymptomatic RBBB-STE patients. Thirteen patients with the RBBB-STE ECG were identified. Symptoms were: syncope (n=3, cases 1, 3, and 11), atypical chest pain (n=3, cases 4, 10, and 12) and palpitations (n=2, cases 6, and 7). The other 5 patients were asymptomatic. SAECG and programmed electrical stimulation (PES) were conducted in all patients. Body surface late potentials (LPs) were present in 7 of 13 patients before PES. Vf was induced in 6 of 7 LP positive patients. Vf was induced in 3 of 6 LP negative patients, but LP became positive in 2 of 3 patients in whom Vf was induced. One patient with syncope due to VF (case 1), 1 patient without symptoms who died suddenly during follow up (case 2), and 1 asymptomatic patient (case 9) showed reproducibly positive LP. In a patient (case 9) with positive LP at baseline, LP transiently became negative during follow up. In RBBB-STE patients, reproducibly positive LP is at risk for malignant ventricular arrhythmias and sudden death. Repeated SAECG recording may be useful for screening high-risk patients who should receive electrophysiological study among asymptomatic RBBB-STE patients.
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PMID:Role of signal-averaged electrocardiograms for predicting the inducibility of ventricular fibrillation in the syndrome consisting of right bundle branch block and ST segment elevation in leads V1-V3. 1222 12


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