Cases reported "Death, Sudden, Cardiac"

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1/23. syncope in the pediatric patient. The cardiologist's perspective.

    The evaluation of syncopal children or adolescents relies heavily on a thorough, detailed history and physical examination. All syncope associated with exercise or exertion must be considered dangerous. The ECG is mandatory, but other laboratory tests are generally of limited value unless guided by pertinent positives or negatives in the history and physical examination. The ECG allows screening for dysrhythmias, such as wolff-parkinson-white syndrome, heart block, and long qt syndrome, as well as hypertrophic cardiomyopathies and myocarditis. Tilt table testing can be useful in selecting therapy by demonstrating the physiologic response leading to syncope in an individual patient. The most common type of syncope in otherwise healthy children and adolescents is neurocardiogenic or vasodepressor syncope, which is a benign and transient condition. Because syncope can be a predictor of sudden cardiac death, it must be taken seriously, and appropriate screening must be performed.
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2/23. Anomalous origin of the main stem of the left coronary artery from the non-facing sinus of valsalva associated with sudden death in a young athlete.

    A young female athlete is described with anomalous origin of the main stem of the left coronary artery from the non-facing sinus of valsalva who sustained myocardial infarction and died suddenly after physical exertion. autopsy findings illustrated the mechanistic importance of acute angle take-off of the left main coronary artery and a slit-like orifice, which was likely compressed and obstructed by acute expansion of the aortic wall. This rare type of coronary anomaly has been regarded as having little clinical significance, but it can lead to sudden cardiac death under physical exertion.
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3/23. Catecholaminergic polymorphic ventricular tachycardia. An important diagnosis in children with syncope and normal heart.

    syncope in children is primarily related to vagal hyperreactivity, but ventricular tachycardia (VT) way rarely be seen. Catecholaminergic polymorphic VT is a rare entity that can occur in children without heart disease and with a normal QT interval, which may cause syncope and sudden cardiac death. In this report, we describe the clinical features, treatment, and clinical follow-up of three children with syncope associated with physical effort or emotion and catecholaminergic polymorphic VT. Symptoms were controlled with beta-blockers, but one patient died suddenly in the fourth year of follow-up. Despite the rare occurrence, catecholaminergic polymorphic VT is an important cause of syncope and sudden death in children with no identified heart disease and normal QT interval.
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4/23. Anabolic steroid abuse and cardiac sudden death: a pathologic study.

    CONTEXT: Androgenic anabolic steroids (AAS) used for improving physical performance have been considered responsible for acute myocardial infarction and sudden cardiac death. OBJECTIVE: To establish the relationship between AAS and cardiac death. DESIGN: Case report. patients: Two young, healthy, male bodybuilders using AAS. MAIN OUTCOME MEASURES: Pathologic cardiac findings associated with AAS ingestion. RESULTS: The autopsy revealed normal coronary arteries. In one case, we documented a typical infarct with a histologic age of 2 weeks. A segmentation of myocardial cells at the intercalated disc level was observed in the noninfarcted region. This segmentation was the only anomaly detected in the second case. No other pathologic findings in the heart or other organs were found. urine in both subjects contained the metabolites of nortestosterone and stanozolol. comment: A myocardial infarct without vascular lesions is rare. To our knowledge, its association with AAS use, bodybuilding, or both lacks any evidence of a cause-effect relationship. The histologic findings in our 2 cases and in the few others reported in medical literature are nonspecific and do not prove the cardiac toxicity of AAS. A better understanding of AAS action on the neurogenic control of the cardiac function in relation to regional myocardial contraction and vascular regulation is required.
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5/23. thrombosis associated with physical restraints.

    OBJECTIVE: Physical restraint is controversial, but still frequently used in psychiatric units. We describe two cases of thromboembolic phenomena, one with a fatal outcome, in association with physical restraint. METHOD: The world literature on physical restraint and thrombosis was reviewed by undertaking a search of electronic databases. RESULTS: To our knowledge, we are the first to report thrombosis associated with physical restraint. CONCLUSION: immobilization and trauma to the legs while restraining a patient are adequate explanations for the occurrence of thrombosis. Special attention should be paid to thrombosis when employing restraints in psychiatric wards. Further systematic research into physical restraints in psychiatry is clearly needed.
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6/23. Brugada.

    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 V1 to V2/V3 (see Table). One major and one minor criterion from the Table can serve to establish a diagnosis of brugada syndrome. The patient presented in this report described symptoms only during physical activity. EPS confirmed the diagnosis of the brugada syndrome, and an ICD was implanted. The clinical importance of the brugada syndrome is that it calls attention to patients at risk for SCD. The syndrome is genetically determined and caused by mutations in the cardiac ion channels. Signal averaging that reveals late potentials can help identify persons who may be at high risk for SCD and who would thus be candidates for EPS, which can identify those at risk of SCD. The ICD is the only therapy known to help prevent SCD in patients with brugada syndrome.
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7/23. Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia.

    BACKGROUND: Mutations in the cardiac ryanodine receptor gene (RyR2) underlie catecholaminergic polymorphic ventricular tachycardia (CPVT), an inherited arrhythmogenic disease occurring in the structurally intact heart. The proportion of patients with CPVT carrying RyR2 mutations is unknown, and the clinical features of RyR2-CPVT as compared with nongenotyped CPVT are undefined. methods AND RESULTS: patients with documented polymorphic ventricular arrhythmias occurring during physical or emotional stress with a normal heart entered the study. The clinical phenotype of the 30 probands and of 118 family members was evaluated, and mutation screening on the RyR2 gene was performed. Arrhythmias documented in probands were: 14 of 30 bidirectional ventricular tachycardia, 12 of 30 polymorphic ventricular tachycardia, and 4 of 30 catecholaminergic idiopathic ventricular fibrillation; RyR2 mutations were identified in 14 of 30 probands (36% bidirectional ventricular tachycardia, 58% polymorphic ventricular tachycardia, 50% catecholaminergic idiopathic ventricular fibrillation) and in 9 family members (4 silent gene carriers). genotype-phenotype analysis showed that patients with RyR2 CPVT have events at a younger age than do patients with nongenotyped CPVT and that male sex is a risk factor for syncope in RyR2-CPVT (relative risk=4.2). CONCLUSIONS: CPVT is a clinically and genetically heterogeneous disease manifesting beyond pediatric age with a spectrum of polymorphic arrhythmias. beta-Blockers reduce arrhythmias, but in 30% of patients an implantable defibrillator may be required. Genetic analysis identifies two groups of patients: patients with nongenotyped CPVT are predominantly women and become symptomatic later in life; patients with RyR2 CPVT become symptomatic earlier, and men are at higher risk of cardiac events. These data provide a rationale for prompt evaluation and treatment of young men with RyR2 mutations.
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8/23. A newly characterized SCN5A mutation underlying brugada syndrome unmasked by hyperthermia.

    Febrile illness has been rarely reported to modulate ST segment elevation in right precordial leads on ECG or even precipitate ventricular fibrillation in patients with brugada syndrome. We report the case of a patient whose Brugada ECG pattern was unmasked by hyperthermia secondary to acute cholangitis. Serial ECGs showed progressive attenuation of ST segment elevation as body temperature gradually returned to normal. Structural heart disease was ruled out. Intravenous flecainide injection reproduced a less remarkable ST segment elevation. Genetic screening demonstrated a single amino acid substitution (H681P) in the SCN5A gene, thus confirming the diagnosis of brugada syndrome. in vitro expression of this newly characterized genetic defect revealed novel biophysical abnormalities consisting of a shift in both steady-state activation and inactivation, resulting in a 60% reduction of sodium window current. Thus, SCN5A-H681P mutation induces a significant loss of transmembrane current and is clinically associated with a pathologic phenotype that is elicited by hyperthermia. overall the observed clinical features are in agreement with previous observations and strongly suggest that fever may be an environmental modifier among brugada syndrome patients with a detrimental (and possibly arrhythmogenic) effect on cardiac repolarization.
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9/23. Arrhythmogenic right ventricular cardiomyopathy and sudden cardiac death in young Koreans.

    The aim of this study was to assess the frequency and clinical characteristics of arrhythmogenic right ventricular cardiomyopathy (ARVC) in young victims of sudden cardiac death (SCD). From January 1999 to December 2000, postmortem studies were conducted in 38 cases of SCD (age < or =35 (27 /-7) years old, 26 male) from the Taegu-Kyungpook region of southeastern korea. Cases of sudden infant death syndrome were excluded. The causes of SCD were ARVC in 42%, acute myocardial infarction in 11%, myocarditis in 11%, pulmonary embolism in 8%, hypertrophic cardiomyopathy in 5%, aortic rupture in 3%, aortic stenosis in 3%, and unknown in 18%. The mean age of the 16 ARVC victims was 27 /-5 years and 10 were male. None were competitive athletes, or had been suspected of having cardiovascular disease before death. SCD was not related to vigorous physical or competitive activity and occurred during sleep in 7 cases, during work in 4, during bathing in 2, while driving, praying and eating in 1 case each. ARVC is an important cause of SCD in young people in this area of korea.
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10/23. Hypertrophic cardiomyopathy in a college athlete.

    The greatest catastrophy in sports is an athlete's unexpected sudden death. Identifying those athletes at risk remains a great challenge to physicians performing preseason examinations. Hypertrophic cardiomyopathy is the most common cause of nontraumatic sudden death in athletes. Most cases of this diseased heart are diagnosed easily by echocardiography. The case presented exemplifies the attention to detail required to differentiate the borderline diseased heart from the conditioned athletic heart. Once a diagnosis of hypertrophic cardiomyopathy is made, further participation in intense physical exercise is discouraged. This recommendation is necessary despite the unknown relative sudden death risk for the minimal criteria cases.
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