A cardiac sodium channel mutation identified in Brugada syndrome associated with atrial standstill.
J Intern Med
; 255(1): 137-42, 2004 Jan.
Article
in En
| MEDLINE
| ID: mdl-14687250
ABSTRACT
Mutations in the cardiac Na+ channel gene SCN5A are responsible for multiple lethal ventricular arrhythmias including Brugada syndrome and congenital long QT syndrome. Here we report a case of Brugada syndrome with ST elevation in the right precordial and inferior leads accompanied by atrial standstill and spontaneous ventricular fibrillation. Atrial standstill and J wave elevation were provoked by procainamide. Genetic analysis revealed a missense mutation (R367H) in SCN5A. The resultant mutant Na+ channel was nonfunctional when expressed heterologously in Xenopus oocytes. Our study suggests that genetic defects in SCN5A may be associated with atrial standstill in combination with ventricular arrhythmias.
Search on Google
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Ventricular Fibrillation
/
Sodium Channels
/
Heart
/
Myocardium
Type of study:
Prognostic_studies
/
Risk_factors_studies
Limits:
Adult
/
Female
/
Humans
Language:
En
Journal:
J Intern Med
Journal subject:
MEDICINA INTERNA
Year:
2004
Document type:
Article
Affiliation country:
Japón