Abstract
The long QT syndrome is characterised by QT prolongation on the ECG, repeated syncope and sudden cardiac death. QT prolongation is the result of delayed repolarisation at the cellular level, secondary to dysfunctioning ion channels. Ventricular arrhythmias underlie syncope and death. At least six genes, all encoding (parts of) ion channels, are causally involved. A molecular diagnosis is often feasible and can be reached reasonably straightforwardly, based on the clinical (family) history and the ECG pattern.
| Translated title of the contribution | From gene to disease; Ion channel proteins and the long QT syndrome |
|---|---|
| Original language | Dutch |
| Pages (from-to) | 2205-2207 |
| Number of pages | 3 |
| Journal | Nederlands Tijdschrift voor Geneeskunde |
| Volume | 144 |
| Issue number | 46 |
| Publication status | Published - 11-Nov-2000 |
Keywords
- ion channel
- electrocardiogram
- gene mutation
- heart repolarization
- heart ventricle arrhythmia
- human
- long QT syndrome
- short survey
- sudden death
- faintness