What are channelopathies?
Ion channelopathies are a group of very rare conditions affecting the heart. They are genetic conditions and are caused by a genetic alteration affecting the ion channels in the heart.
Every cell in the heart muscle has a ion channel in its wall. The function of the ion channel is to provide a route in and out of the cell for chemical substances aka ions. This movement of ions allows electrical impulses to pass from cell to cell causing a normal heartbeat.
The sodium and potassium channels are of particular importance in the heart and disruption of these channels can result in an abnormal heart beat. Disruption of the channels can cause too many or too few ions moving in or out of the cells.
Changes in the ion channels and therefore the electrical activity of the heart muscle can cause irregular heath beats and result in:
Loss of consciousness
In some rarer cases death
Channelopathies can affect both adults and children. Interestingly, patients with a channelopathy often have a normal heart structure and function. Just a small number of affected people will have structural abnormalities.
The most common channelopathies include:
Long QT syndrome
Short QT syndrome
Catecholaminergic polymorphic ventricular tachycardia (CPVT)
This article is intended to inform and give insight but not treat, diagnose or replace the advice of a doctor. Always seek medical advice with any questions regarding a medical condition.