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)

Twenty-eight patients of cyanotic congenital heart disease (CHD) complicated with brain abscess were reviewed. There were 22 males and 6 females with a mean age of 9.1 +/- 5.5 years. Tetralogy of Fallot was the commonest cyanotic CHD observed. Transposition of great arteries (PS), tricuspid atresia with VSD, PS and double outlet right ventricle with VSD comprised 25% of the cardiac lesions. Febrile illness was the commonest mode of presentation (42.86%). Frontal lobe was the commonest site of abscess localization (37.5%) followed by parietal lobe (32.5%). Multiple abscess were seen in 32.14% and in 35.7% the pus was sterile on culture. Twelve patients died (mortality -42.8%), and autopsy reports were available in 6. Infective endocarditis was suspected in 7 on clinical grounds, while at autopsy, out of 6 only 2 had evidence of right-sided endocarditis. There was no correlation of mortality with age, sex, type of micro-organism, site of abscess localization and the nature of heart disease. Multiple abscesses, features of raised intracranial tension and associated meningitis/ventriculitis predicted a grim outcome.
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PMID:Brain abscess in cyanotic congenital heart disease. 277 3

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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PMID:A newly characterized SCN5A mutation underlying Brugada syndrome unmasked by hyperthermia. 1467 48