The long QT syndrome (LQT) is an inherited cardiac disorder that can cause sudden cardiac death among apparently healthy young individuals due to malignant ventricular arrhythmias. LQT was found to be caused by mutations in four genes LQT1, LQT2, LQT3 and LQT5, and linkage was reported for an additi
Congenital Long QT Syndrome and 2:1 Atrioventricular Block with a Mutation of the SCN5A Gene
โ Scribed by M. Miura; H. Yamagishi; Y. Morikawa; R. Matsuoka
- Publisher
- Springer
- Year
- 2003
- Tongue
- English
- Weight
- 175 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0172-0643
No coin nor oath required. For personal study only.
๐ SIMILAR VOLUMES
Two missense mutations and a nine-nucleotide deletion of the cardiac sodium channel (SCN5A) gene have been shown to cause long QT syndrome (LQTS) in sev eral familial cases. We identified a novel missense mutation (R1623Q) of the SCN5A gene in a Japanese girl with sporadic LQTS. We used polymerase c
The long QT syndrome (LQTS) is a cardiac disorder characterized by prolongation of the QT interval on electrocardiograms (ECGs), syncope and sudden death caused by a specific ventricular tachyarrhythmia known as torsade de pointes. LQTS is caused by mutations in ion channel genes including the cardi
Congenital long QT syndrome type 3 (LQT3) is caused by mutations in the gene SCN5A encoding the alpha-subunit of the cardiac Na(+) channel (Nav1.5). Functional studies of SCN5A mutations in the linker between domains III and IV, and more recently the C-terminus, have been shown to alter inactivation